It has been one year since we received the phone call diagnosing Brooklynn with PTEN Hamartoma Tumor Syndrome. Depending on the day, sometimes I can't believe it has only been a year, and other times I can't believe it has already been a year. In this last year, I have learned a few things about myself and my family.
1. Those who care about you will stick by you through everything. Even when you are at your worse (because believe me, I was very emotional in the beginning), they understand you and allow you to not be at your best at all times.
2. Sometimes having a diagnosis does relieve some of the stress. Not being diagnosed, Brooklynn had to be at the doctors at least every month. Now that we have a diagnosis, we are going months between appointments. November is our thyroid ultrasound, and the only other appointment we have that we know of coming up is cardiology in April. To us, that is amazing. Any month we can go without doctors appointments really is a blessing.
3. Sometimes having a diagnosis really really sucks. I am glad we know what to look for. But I hate that we know what to look for. That we have to watch for signs of overgrowth. That we have to be aware of neurological symptoms that can indicate growths in the brain. That we have to watch for signs of GI polyps. And so on and so forth. And no matter how much time passes from the time of diagnosis, it will still be difficult knowing that this is her life...
4. At times, I am glad that I have a medical background. But there are times where I can turn everything over and just ask Brooklynn's doctors to be 100% responsible for knowing all of her possibilities. I hate carrying that load on myself. I want to look at her like my daughter, not like she is a patient. I am getting a little better at not "examining" her all the time. But I know I always have to look for things.
5. Brooklynn is truly an amazing young girl. I knew this before we had a diagnosis, but I know it even more now. Because even the barriers she has had to overcome, such as speech delay, muscle weakness, illnesses - she is still the HAPPIEST girl I have ever met. She throws fits, yes, but her overall demeanor is happy go lucky. It's pretty amazing to see.
6. I am very glad we have Izzy. Their sisterly bound is amazing. When Brooklynn has tests or any doctor's appointments, Izzy is right there telling her everything will be okay. She wants to make her better. She doesn't like to see her sad. I think this is going to have the been stronger as sisters. Brooklynn will need her support, and Izzy will enjoy Brooklynn's positive attitude. (I pray she keeps that positivity through everything).
7. We are stronger than we think we are. And life does really go on. I can sit here and dwell on everything that can happen. Or I can sit here and think of all that has not happened and how every day is truly amazing. I am trying to enjoy life every day with my kids. I take in every second that we go without any illness or fears of something being wrong. Because I have learned it can be taken away quickly.
8. I am still pissed some days. I am pissed that all of Brooklynn's life, the opportunity for her to be a young girl was taken away from her. My opportunity to look at her like "every other kid" was taken away from me. And I also am extremely happy to learn that her uniqueness and the fact that she is not like "every other kid" is what makes me love her even more.
9. Genetics testing really does stink. Because you open the door, and you can keep on going. We spent a whole year drawing labs. One year! That is a long time to have a lab drawn, get results, and decide which lab to draw next. And that you find out a piece of information, how it can truly effect every part of your being and your thoughts about where you were going with life. And you know, insurance companies and medical bills - they are not fun to deal with either. You have to stay on your toes.
So it has been a year. And as a family, we are stronger. And I am learning to not allow myself to dwell. I still stay up to date on journal articles. But I don't stress out about them like I did before. Because one day you can read an article that states cancer risk can be up to 85%, the next day you see an article that says 50%. So, they are still learning. And hopefully by the time cancer is a possibility in her life, we will be hundreds of miles ahead of where we are now, and cancer will no longer be such a scary word because there will be a cure, a preventative medication, something, that decreases her risk. So my hope comes in a lot more than it did when we received the diagnosis.
So far, this diagnosis has not reared it's ugly head. So far, it is allowing us to get the services Brooklynn needs to thrive and continue to grow. I am grateful for that. And while I wear my "medical hat" a little more than I would like, I know that I will be as vigilant as I can. And I know our family will continue to become stronger. I am curious as to where we will be in one year...
Saturday, October 26, 2013
Thursday, August 22, 2013
What a year this will be!!
I can't get over how many things are going to be different this year!! Many of them are going to be so exciting, but challenging. First off Izzy started Kindergarten!! I can't believe how big she is now!! She is enjoying school so much, and is loving learning all the new things and interacting with new people. She is getting wiped out though, falling asleep by 8:30 most nights (tonight she was out by 7:30). We signed her up for another year of dance, this time graduating to the Combo class, where she will learn more technique for tap and ballet. She keeps asking me about gymnastics, so I told her we will enroll her in gymnastics during the summer so she can experience both! She was thrilled. I also am doing a very grown up thing and have signed up for...gulp...PTA!! Holy cow I can't believe I have a child old enough for me to do things for in PTA. Crazy.
Brooklynn's starts back at Early Childhood Center this year, hopefully beginning the transition from a special education classroom into the regular preschool classroom. This means she will get to interact with children who don't have as many developmental delays. I am really hoping she can start transitioning this year to spend half her time in the Title 1 Preschool, and maybe next year be completely in the preschool, with just having to have therapies every once in a while. The elementary school we go to does not have a special education program, only therapies, and therefore fi she can't transition to a regular class, she will need to go to a different school. We have 2 years for this to happen, so I am glad we are slowly transitioning her so it's not a shock.
I have also made a big step this year and am starting back at college. I am going to Benedictine University online to get my Masters of Science in Nursing for Nursing Executive Leadership. I hope to get into program development, management, something that I can help create and initiate policies and procedures that help with families and children who have special needs manage their medical care easier. I am hoping to get the tools I need to create a program that helps parents manage their child's care.
We have dealt with stomach issues with Izzy. She has complained her stomach hurts since May. So in July, we started her on lactose free milk. It seems to be helping. She seems to do okay with occasionally cheese, yogurts, ice cream, but it was the constant milk drinking. I don't know if this was the solution, or if we will face with stomach issues again, but for now we will stick with lactose free milk. Her doctor feels like she might have a lactose intolerance, so we will just keep monitoring her and if her stomach pains start back up, we are to go back.
I am really enjoying us not having doctors appointments or lab tests pending. We are having Brooklynn's PT look at her at school, as she is starting to rotate her ankles a little more inward, and her toes are pointing out a little more so I am wanting to see if her hot dog inserts are enough to help her muscle tone, or if she needs something that goes up to her ankles. Hopefully they will let us know if it is anything to be concerned about. So we might end up having a PT appointment but we will see. After that our next appointment that is planned will be a thyroid ultrasound in November, and than a cardiology appointment in April!! Yep that's right - in six months we only have 2 planned appointments! This is so amazing!
I have learned, though, based on other people who have experience with PTEN that you never can get too comfortable, and to appreciate all the time you have where doctors visits are not a part of your world. Things seem to just pop up out of nowhere, mostly causing pain, growths, etc that are of concern. I feel like I have to be hypervigilant, which stresses me out. I have to always be aware and do assessments, because I need to catch something at the first sign. If I allow myself to relax and not watch for things, I might not catch something and it might be too late. Today I read about a little girl who is 6 who has PTEN who just had to have her leg amputated because of a tumor that grew that cut off circulation to her body. They had to amputate her leg to save her life. While I know this will probably never happen to us, the fear that something similar might happen freaks me out. There seem to be lots of growths that pop up on kids that cause the to have to have surgery, that affects them through pain, or that cuts off blood supply. It's scary. It creates a sense of fear in me. It makes me hypervigilant. So to all those people who are tired of hearing me talk about it, I apologize. I started this blog post off with some really amazing things. And than it ends with my worries. But again, this is my blog, and it is where I can rant. I hate it, because people talk about their kids, or people they know, and the bad things that happen, and it seems many of those things are possibilities in our lives. I have a coworker who talked about her son's best friend from high school, who had an AVM on his brain, which caused him to get really sick and had to have brain surgery. This could happen to us. She also talked about her son who has GI issues, which increases his risk of GI cancer. This can happen to us. I have a former coworker who is dealing with breast cancer at a much too young of age, and my husband's cousin who has dealt with this battle as well, much too young. This can happen to us. I know this may never happen to us. But I know in the back of my mind that at any time, something COULD happen. Her chances are too high for something to NOT happen. I know something can happen to any of us, but I hate that there are SOOO many things that can happen to her. Just by having this mutation, her risk is too high for too many things. TO a mom, this sucks, it stresses me out. I thought I would be over this stress by now. But I am not. Just when I think I am better and I can move on, I hear another story that makes me think "what if". I hate that.
Brooklynn is such a fun loving kid. She is always happy. She is always cuddly with us. She is funny. She has no fear (sometimes to a fault). She loves to dance, she loves to sing. The thought of anything happening to take any of that away scares me. She is blessed with an amazing big sister. Izzy is amazing with her. She helps take care of her - I know Izzy will always be there, to help support her, help her through her troubles, love her, dote on her. The sisterly bond between these two is amazing. Our family is so amazing. I pray we have many, many, many years where we have no health scares. I am weak - I know I am weak. I cry at the drop of a hat. I am fearful and a worry wart. Those are my weaknesses. My kids are my strengths, and they are my biggest weakness. I don't know if I am strong enough fro anything to happen to them. I know these are all worries that I shouldn't think about. But I am still processing what our life will be. I am still adjusting to that fact that it is not how I had planned. Even though life is not how I planned, I am still extremely blessed. My kids are truly amazing!
Brooklynn's starts back at Early Childhood Center this year, hopefully beginning the transition from a special education classroom into the regular preschool classroom. This means she will get to interact with children who don't have as many developmental delays. I am really hoping she can start transitioning this year to spend half her time in the Title 1 Preschool, and maybe next year be completely in the preschool, with just having to have therapies every once in a while. The elementary school we go to does not have a special education program, only therapies, and therefore fi she can't transition to a regular class, she will need to go to a different school. We have 2 years for this to happen, so I am glad we are slowly transitioning her so it's not a shock.
I have also made a big step this year and am starting back at college. I am going to Benedictine University online to get my Masters of Science in Nursing for Nursing Executive Leadership. I hope to get into program development, management, something that I can help create and initiate policies and procedures that help with families and children who have special needs manage their medical care easier. I am hoping to get the tools I need to create a program that helps parents manage their child's care.
We have dealt with stomach issues with Izzy. She has complained her stomach hurts since May. So in July, we started her on lactose free milk. It seems to be helping. She seems to do okay with occasionally cheese, yogurts, ice cream, but it was the constant milk drinking. I don't know if this was the solution, or if we will face with stomach issues again, but for now we will stick with lactose free milk. Her doctor feels like she might have a lactose intolerance, so we will just keep monitoring her and if her stomach pains start back up, we are to go back.
I am really enjoying us not having doctors appointments or lab tests pending. We are having Brooklynn's PT look at her at school, as she is starting to rotate her ankles a little more inward, and her toes are pointing out a little more so I am wanting to see if her hot dog inserts are enough to help her muscle tone, or if she needs something that goes up to her ankles. Hopefully they will let us know if it is anything to be concerned about. So we might end up having a PT appointment but we will see. After that our next appointment that is planned will be a thyroid ultrasound in November, and than a cardiology appointment in April!! Yep that's right - in six months we only have 2 planned appointments! This is so amazing!
I have learned, though, based on other people who have experience with PTEN that you never can get too comfortable, and to appreciate all the time you have where doctors visits are not a part of your world. Things seem to just pop up out of nowhere, mostly causing pain, growths, etc that are of concern. I feel like I have to be hypervigilant, which stresses me out. I have to always be aware and do assessments, because I need to catch something at the first sign. If I allow myself to relax and not watch for things, I might not catch something and it might be too late. Today I read about a little girl who is 6 who has PTEN who just had to have her leg amputated because of a tumor that grew that cut off circulation to her body. They had to amputate her leg to save her life. While I know this will probably never happen to us, the fear that something similar might happen freaks me out. There seem to be lots of growths that pop up on kids that cause the to have to have surgery, that affects them through pain, or that cuts off blood supply. It's scary. It creates a sense of fear in me. It makes me hypervigilant. So to all those people who are tired of hearing me talk about it, I apologize. I started this blog post off with some really amazing things. And than it ends with my worries. But again, this is my blog, and it is where I can rant. I hate it, because people talk about their kids, or people they know, and the bad things that happen, and it seems many of those things are possibilities in our lives. I have a coworker who talked about her son's best friend from high school, who had an AVM on his brain, which caused him to get really sick and had to have brain surgery. This could happen to us. She also talked about her son who has GI issues, which increases his risk of GI cancer. This can happen to us. I have a former coworker who is dealing with breast cancer at a much too young of age, and my husband's cousin who has dealt with this battle as well, much too young. This can happen to us. I know this may never happen to us. But I know in the back of my mind that at any time, something COULD happen. Her chances are too high for something to NOT happen. I know something can happen to any of us, but I hate that there are SOOO many things that can happen to her. Just by having this mutation, her risk is too high for too many things. TO a mom, this sucks, it stresses me out. I thought I would be over this stress by now. But I am not. Just when I think I am better and I can move on, I hear another story that makes me think "what if". I hate that.
Brooklynn is such a fun loving kid. She is always happy. She is always cuddly with us. She is funny. She has no fear (sometimes to a fault). She loves to dance, she loves to sing. The thought of anything happening to take any of that away scares me. She is blessed with an amazing big sister. Izzy is amazing with her. She helps take care of her - I know Izzy will always be there, to help support her, help her through her troubles, love her, dote on her. The sisterly bond between these two is amazing. Our family is so amazing. I pray we have many, many, many years where we have no health scares. I am weak - I know I am weak. I cry at the drop of a hat. I am fearful and a worry wart. Those are my weaknesses. My kids are my strengths, and they are my biggest weakness. I don't know if I am strong enough fro anything to happen to them. I know these are all worries that I shouldn't think about. But I am still processing what our life will be. I am still adjusting to that fact that it is not how I had planned. Even though life is not how I planned, I am still extremely blessed. My kids are truly amazing!
Tuesday, July 2, 2013
Father's Day Post - Way late :)
So I know this is super late, but things have been really crazy lately. So I am going to be writing 2 letters - one to my amazing dad, and one to my hubby!
Dear Dad,
Thank you so much for all you do for our family! You are the strength that I need many times throughout my life. When I think of how things were growing up, we always knew you were there for us. You might be silently sitting in the room, but we knew you would be there to support us no matter how tired you were from work the night before, or if you had to go in that night, it didn't matter. You encouraged us, as women, to be strong. You encouraged us to never think we were any less than a man. You taught us to accept no less than the best - that we deserve the best, and we deserve to be treated with respect and dignity. You always made sure we knew that we could do anything we wanted to do, and you provided us with the tools we needed to achieve our goals. You taught us to never expect anything less than the best from ourselves. Even if the best we could give was not necessarily the best in the group - you taught us to try as hard as we can. That even if we didn't come in first place, as long as we gave it our all, that is all that mattered. You taught us to accept our failures, but to make sure we learned from them. You were always a little tough on us, not because you were mean, but because you wanted to teach us the value of hard work. And that is so much appreciated. Because now, as a grown woman, I can take care of myself. I take pride in the fact that I work hard, and to know that my dad had a huge hand in teaching me that.
You also taught me the true meaning of undeniable love for my children. I know if we ever needed anything you would drop everything and help us out, whether it is physically, financially, or emotionally. You drive cross country for your family, even in cars that might not make it - you take that risk so you can see the ones you love. You taught us the value of a dollar, and to appreciate what we have. And i hope I instill all those in my kids. I have to say, the hugs you give now are a little tighter, and little longer, and I love them every time. Thank you dad, for all you have ever given us and taught us. The skills and the values you taught me will carry on with my kids. And I love that my kids get to spend so much time with Papa. There is no denying how proud you are of them and of us. The way you look at my kids, and the love you have for them that displays on your face, makes me feel so great. I know that they feel love every where they go, and that makes me feel amazing!! The girls will always be talking about their adventures with their papas. You let them explore and find things out for themselves, even when "helicopter" mom might freak out. You allow the girls to go a little further than I might, and I appreciate that. Because they learned how to go on the monkey bars, how to climb trees, and I know that is mainly due to the fact that you don't restrict them. You let them, safely, explore their limits, and you are ok with letting them fail. But you encourage them to try again. In this world, that is a lesson that is not taught very frequently, and so that lesson is very much appreciated. Thank you for all of that.
I hope you know how much we love and appreciate all you do (every single one of us). My strength and my love for others comes from you and I hope you know how much I appreciate all the lessons you have taught me, and continue to teach me, and all the lessons you give my children that I might not be as good as teaching them.
You are loved more than you will ever know.
Love you,
Beckie
Dear Sam,
Here is my letter to you for all to read. I want you to know how much you are appreciated. How much I have seen you grow and mature, not only as a father, but as a man. The undeniable love you have for your children makes me love you even more than I could imagine. You never cease to amaze me with how much you love the girls. You have sacrificed a lot to be there with us as a father, a husband, and a man. You are teaching the girls how a man should treat a woman. You are always willing to be goofy with the girls. You don't allow them to ever question whether you love them. The fact that you make sure every night you go in and give them a kiss and tell them you love them before they fall asleep, that will stay with them forever. They won't ever doubt that their daddy loves them. I appreciate that you enjoy staying home with the family. That watching a movie and lounging on the couch with the kids is just as exciting to you as going out used to be. The smile you get on your face when you interact with the girls shows how much you truly love them.
Thank you for being there for the girls. Thank you for being there for me. Thank you for being my strength when I felt like I was falling apart, through everything we have been through this year. Thank you for bringing me back to reality and reminding me to concentrate on the here and now, not the "what ifs". You always try to make it the kids events whenever you can. I hope you know how much you are loved and appreciated, not only by me, but by your children. And that is not something every man can say!
Love you loads,
Me
Dear Dad,
Thank you so much for all you do for our family! You are the strength that I need many times throughout my life. When I think of how things were growing up, we always knew you were there for us. You might be silently sitting in the room, but we knew you would be there to support us no matter how tired you were from work the night before, or if you had to go in that night, it didn't matter. You encouraged us, as women, to be strong. You encouraged us to never think we were any less than a man. You taught us to accept no less than the best - that we deserve the best, and we deserve to be treated with respect and dignity. You always made sure we knew that we could do anything we wanted to do, and you provided us with the tools we needed to achieve our goals. You taught us to never expect anything less than the best from ourselves. Even if the best we could give was not necessarily the best in the group - you taught us to try as hard as we can. That even if we didn't come in first place, as long as we gave it our all, that is all that mattered. You taught us to accept our failures, but to make sure we learned from them. You were always a little tough on us, not because you were mean, but because you wanted to teach us the value of hard work. And that is so much appreciated. Because now, as a grown woman, I can take care of myself. I take pride in the fact that I work hard, and to know that my dad had a huge hand in teaching me that.
You also taught me the true meaning of undeniable love for my children. I know if we ever needed anything you would drop everything and help us out, whether it is physically, financially, or emotionally. You drive cross country for your family, even in cars that might not make it - you take that risk so you can see the ones you love. You taught us the value of a dollar, and to appreciate what we have. And i hope I instill all those in my kids. I have to say, the hugs you give now are a little tighter, and little longer, and I love them every time. Thank you dad, for all you have ever given us and taught us. The skills and the values you taught me will carry on with my kids. And I love that my kids get to spend so much time with Papa. There is no denying how proud you are of them and of us. The way you look at my kids, and the love you have for them that displays on your face, makes me feel so great. I know that they feel love every where they go, and that makes me feel amazing!! The girls will always be talking about their adventures with their papas. You let them explore and find things out for themselves, even when "helicopter" mom might freak out. You allow the girls to go a little further than I might, and I appreciate that. Because they learned how to go on the monkey bars, how to climb trees, and I know that is mainly due to the fact that you don't restrict them. You let them, safely, explore their limits, and you are ok with letting them fail. But you encourage them to try again. In this world, that is a lesson that is not taught very frequently, and so that lesson is very much appreciated. Thank you for all of that.
I hope you know how much we love and appreciate all you do (every single one of us). My strength and my love for others comes from you and I hope you know how much I appreciate all the lessons you have taught me, and continue to teach me, and all the lessons you give my children that I might not be as good as teaching them.
You are loved more than you will ever know.
Love you,
Beckie
Dear Sam,
Here is my letter to you for all to read. I want you to know how much you are appreciated. How much I have seen you grow and mature, not only as a father, but as a man. The undeniable love you have for your children makes me love you even more than I could imagine. You never cease to amaze me with how much you love the girls. You have sacrificed a lot to be there with us as a father, a husband, and a man. You are teaching the girls how a man should treat a woman. You are always willing to be goofy with the girls. You don't allow them to ever question whether you love them. The fact that you make sure every night you go in and give them a kiss and tell them you love them before they fall asleep, that will stay with them forever. They won't ever doubt that their daddy loves them. I appreciate that you enjoy staying home with the family. That watching a movie and lounging on the couch with the kids is just as exciting to you as going out used to be. The smile you get on your face when you interact with the girls shows how much you truly love them.
Thank you for being there for the girls. Thank you for being there for me. Thank you for being my strength when I felt like I was falling apart, through everything we have been through this year. Thank you for bringing me back to reality and reminding me to concentrate on the here and now, not the "what ifs". You always try to make it the kids events whenever you can. I hope you know how much you are loved and appreciated, not only by me, but by your children. And that is not something every man can say!
Love you loads,
Me
Monday, June 24, 2013
Dermatology Appointment and Research Labs
Today we went to our follow up for dermatology clinic. Last year, we went not knowing what we were dealing with for Brooklynn. Now we have a diagnosis. I was SOOO excited because the doctor had actually heard of PTEN Hmaratoma Tumor Syndrome, and to make things even better, he actually has had patients who have had it!! That made me feel so good because most people look at me like I am speaking a foreign language when I tell them her diagnosis. SO he took a look at her, and all of her spots look the same, and none are concerning for any types of growths or anything. He explained to me some of the things to watch for, including unexplainable bumps, colorations, and moles that are growing in size. I was able to ask him questions and he actually was able to answer them. I asked the youngest person he had seen with this and he told me 10 months of age, and that baby had a growth on their shoulder that was removed. He told me to consider buying a laundry additive that would add SPF to the clothes (right now most clothes are like an SPF of 4, and with the additive it makes clothes an SPF of 30, and it lasts for 20 washes). He said that he has seen teenagers that have spots that are concerning for cancers, because of the fact that they are more lax in applying sunscreen and they want to tan. So we just need to do lots of education for her and the importance of staying free from sunburns (of course this is important for Izzy as well, but more so for Brooklynn since her cancer rate is so much higher). I asked him about AV (or arterial venous) malformation, and he stated he does see them, and a lot of times they are red, hot to the touch, and can be any where. The most common place he has found is behind the ear, but he has seen them on the face and other places.
The nice thing is we don't have to see him every year. That with monthly exams by us her parents, and yearly at least by the pediatrician, and only making referrals if things pop up, that we don't need to be seen regularly. SO that means we have been cleared (at this time) by ONE MORE SPECIALIST!!! How exciting. He did say with this diagnosis it is like a ticking time bomb, because you never know, if ever, you will get a spot or something that will be of concern. He says it is usually a matter of time that SOMETHING pops up, but most of the time it is benign.
After our dermatology appointment, we went to get Brooklynn's labs drawn for her research study. I am not sure if I have written about the study, but we are enrolling her in a study through Cleveland CLinic (the gurus of PTEN), which will examine her blood and other people's and see if there are any links they can find to certain symptoms. She will be in a research article, which is a little scary, but it will be good in the end. If they find out anything they will give us the information, and if nothing else it will help further the information available about PTEN, that maybe some day more families will have better information that we have.
The nice thing is we don't have to see him every year. That with monthly exams by us her parents, and yearly at least by the pediatrician, and only making referrals if things pop up, that we don't need to be seen regularly. SO that means we have been cleared (at this time) by ONE MORE SPECIALIST!!! How exciting. He did say with this diagnosis it is like a ticking time bomb, because you never know, if ever, you will get a spot or something that will be of concern. He says it is usually a matter of time that SOMETHING pops up, but most of the time it is benign.
After our dermatology appointment, we went to get Brooklynn's labs drawn for her research study. I am not sure if I have written about the study, but we are enrolling her in a study through Cleveland CLinic (the gurus of PTEN), which will examine her blood and other people's and see if there are any links they can find to certain symptoms. She will be in a research article, which is a little scary, but it will be good in the end. If they find out anything they will give us the information, and if nothing else it will help further the information available about PTEN, that maybe some day more families will have better information that we have.
Sunday, June 23, 2013
June Weekend Trips!
So June has been filled with some great things. The beginning of June, Sam, the girls, and I all took a trip to St. Louis with my side of the family for my niece's wedding (Tara married Zach - her high school sweetheart). My mom, dad, sister Kristen, Alex and Mia, Sister Stephanie, Jacob and Devon, and then my half sister Susan, Half brothers Eric and Brad. It was so great to see everybody. It was the first time the girls had been to a wedding.
I posted a bunch of pictures on Facebook at
https://www.facebook.com/beckie.palmer.52/media_set?set=a.10101492875218050.1073741828.15915976&type=3.
The first day we went to the Science Center where the girls had a great time playing with chemistry sets, exploring dinosaurs, and a bunch of random other things. That night we met up with everybody and ate dinner near the Union Station. It was an interesting night, as when we went to go swimming at my parents' hotel, we got hit with tornado sirens, and had to sit in the employee lounge for about 30 minutes before we could be released. Always interesting to have to go to the bottoms of a hotel for fear of getting hit by a tornado.
Saturday, we went to Tara's wedding, which was absolutely beautiful. Saturday night after the reception, we all crashed, hoping to wake up and go to the arch or the children's museum in the morning. That night, Brooklynn woke up with a GI bug. It was not fun to travel 4 hours home with a child who has a GI bug. She was a trooper. The rest of that week, we all had the GI bug. It really was not fun. But the trip was :).
This last weekend, we took the girls to Omaha with Sam's parents. We had a blast. Saturday we drove up and took the girls to the Zoo which is always fun. It was PACKED!! There were so many people in town for baseball tournaments (the college world series was this weekend, plus there were a ton of high school tournaments going on). Word to the wise, check the calendar of events and AVOID Omaha on that week. We still had fun and the girls loved seeing the animals. Izzy, at least, had a blast. Brooklynn did not love the crowds so much and threw a lot of her fits, refused to walk, refused to ride in the stroller, etc. But she still had fun and we all had a good time. It was amazing to see her mood change when we left and went somewhere not so congested. We checked into our hotel which was really nice. We rented a 2 bedroom suite so that all of us could stay together. We got free cocktails for 2 hours, they had a movie playing in a boardroom so the girls watched part of Escape to Planet Earth. We also got complimentary breakfast made to order. Yum. The girls enjoyed swimming in the pool as well.
I posted pictures on facebook of our trip as well.
https://www.facebook.com/beckie.palmer.52/media_set?set=a.10101538074283760.1073741829.15915976&type=3
Sunday we went to the Old Market, walked by the water, went over some bridges, and did a little shopping. All and all a really great trip. Especially since before we left we all came down with a case of strep throat (except Sam luckily). But by the weekend, we were all feeling much better and able to enjoy our time.
I am happy that I finally get to blog about something joyful and NOT filled with medical news. I think we will make it more of a habit to go on weekend excursions, especially now that we have my new Escape. It is so easy to travel in that car, and the girls and us as well enjoy getting out of town, even if just for a few days. Especially when we get to enjoy it with other family members!
I posted a bunch of pictures on Facebook at
https://www.facebook.com/beckie.palmer.52/media_set?set=a.10101492875218050.1073741828.15915976&type=3.
The first day we went to the Science Center where the girls had a great time playing with chemistry sets, exploring dinosaurs, and a bunch of random other things. That night we met up with everybody and ate dinner near the Union Station. It was an interesting night, as when we went to go swimming at my parents' hotel, we got hit with tornado sirens, and had to sit in the employee lounge for about 30 minutes before we could be released. Always interesting to have to go to the bottoms of a hotel for fear of getting hit by a tornado.
Saturday, we went to Tara's wedding, which was absolutely beautiful. Saturday night after the reception, we all crashed, hoping to wake up and go to the arch or the children's museum in the morning. That night, Brooklynn woke up with a GI bug. It was not fun to travel 4 hours home with a child who has a GI bug. She was a trooper. The rest of that week, we all had the GI bug. It really was not fun. But the trip was :).
This last weekend, we took the girls to Omaha with Sam's parents. We had a blast. Saturday we drove up and took the girls to the Zoo which is always fun. It was PACKED!! There were so many people in town for baseball tournaments (the college world series was this weekend, plus there were a ton of high school tournaments going on). Word to the wise, check the calendar of events and AVOID Omaha on that week. We still had fun and the girls loved seeing the animals. Izzy, at least, had a blast. Brooklynn did not love the crowds so much and threw a lot of her fits, refused to walk, refused to ride in the stroller, etc. But she still had fun and we all had a good time. It was amazing to see her mood change when we left and went somewhere not so congested. We checked into our hotel which was really nice. We rented a 2 bedroom suite so that all of us could stay together. We got free cocktails for 2 hours, they had a movie playing in a boardroom so the girls watched part of Escape to Planet Earth. We also got complimentary breakfast made to order. Yum. The girls enjoyed swimming in the pool as well.
I posted pictures on facebook of our trip as well.
https://www.facebook.com/beckie.palmer.52/media_set?set=a.10101538074283760.1073741829.15915976&type=3
Sunday we went to the Old Market, walked by the water, went over some bridges, and did a little shopping. All and all a really great trip. Especially since before we left we all came down with a case of strep throat (except Sam luckily). But by the weekend, we were all feeling much better and able to enjoy our time.
I am happy that I finally get to blog about something joyful and NOT filled with medical news. I think we will make it more of a habit to go on weekend excursions, especially now that we have my new Escape. It is so easy to travel in that car, and the girls and us as well enjoy getting out of town, even if just for a few days. Especially when we get to enjoy it with other family members!
Monday, May 13, 2013
Mother's Day Thanks!
Dear Mom,
This letter is for you for Mother's Day! I know it's a day late, but I wanted to send you a letter that I knew you would read (and also let everybody else know how special you are to me). You are such a special woman, and one of the reasons you are so special is because you don't realize how special you are. Everybody who knows you is better off because of you. When I tell people who my mother is, they always mention "how truly amazing she is". I am a very lucky person.
You are always there for me. Even growing up, you showed me how to be a real woman, how to be strong, how to be a real mom. You tried to keep me from making mistakes, and when I truly resisted and made them any way, you were always there to pick me up and teach me how to learn from those mistakes. You set boundaries, and enforced those boundaries, but you also let me set out on my own without guilt. You let me choose my own path, even though I know at times it was hard for you to sit back and let me do it. And most of the paths I took lead to the right choice, even though sometimes I had to take the rough way.
You have always been there to dry my tears, and even though I know you struggled at times to stay strong, you knew just what to say to make me feel better. I knew in your voice that it was hard for you to maintain your strength, but you never ceased to amaze me through everything.
You have taught me how to be selfless, how to sacrifice for my children, how to truly love another person, even when it hurts. You taught me the true meaning of integrity, and what it really means to be good person. You give so much of yourself, you always forget to take for yourself. I know no matter what, I can call you up, scream, cry, and get angry, and you will just listen, and when you feel it is right you will give me advice.
I know how to raise my kids because of you. I know what values I want them to learn from me, because I learned some amazing values from you. If I am half the mother you were to me, I will have done a good job. Even the times I got so mad at you growing up, looking back, I knew you were just trying to protect me. You always knew how far to let me go without letting me completely fall flat. You taught me to not be so hard on myself, but to always push forward and to try my utmost best.
When we struggled with everything with Brooklynn, you were always there no matter what. You would drop everything and help me. When I couldn't do anything because I was on bedrest, you came to my house every day so that I could spend time with Izzy while Sam was at work. You didn't have to do that. But you knew what I needed and you sacrificed everything else for me. I will never be able to repay you for everything you have ever given me.
My kids are better because of you. They have an amazing nana who sacrifices everything for them as well. They are learning so many life lessons that I couldn't even begin to teach. I know that I can work full time, because they are being raised by an amazing woman along with us. Those memories they are creating are going to last a lifetime and I am so happy for that.
Mom, I want you to know that not only do I love you as my mom, but I love you as one of my best friends!! Thank you for everything you have ever done. It will never go unappreciated - I just hope you know how much you are appreciated and loved!
Love you always and forever, and to the moon and back,
Your youngest daughter, your surprise :)
This letter is for you for Mother's Day! I know it's a day late, but I wanted to send you a letter that I knew you would read (and also let everybody else know how special you are to me). You are such a special woman, and one of the reasons you are so special is because you don't realize how special you are. Everybody who knows you is better off because of you. When I tell people who my mother is, they always mention "how truly amazing she is". I am a very lucky person.
You are always there for me. Even growing up, you showed me how to be a real woman, how to be strong, how to be a real mom. You tried to keep me from making mistakes, and when I truly resisted and made them any way, you were always there to pick me up and teach me how to learn from those mistakes. You set boundaries, and enforced those boundaries, but you also let me set out on my own without guilt. You let me choose my own path, even though I know at times it was hard for you to sit back and let me do it. And most of the paths I took lead to the right choice, even though sometimes I had to take the rough way.
You have always been there to dry my tears, and even though I know you struggled at times to stay strong, you knew just what to say to make me feel better. I knew in your voice that it was hard for you to maintain your strength, but you never ceased to amaze me through everything.
You have taught me how to be selfless, how to sacrifice for my children, how to truly love another person, even when it hurts. You taught me the true meaning of integrity, and what it really means to be good person. You give so much of yourself, you always forget to take for yourself. I know no matter what, I can call you up, scream, cry, and get angry, and you will just listen, and when you feel it is right you will give me advice.
I know how to raise my kids because of you. I know what values I want them to learn from me, because I learned some amazing values from you. If I am half the mother you were to me, I will have done a good job. Even the times I got so mad at you growing up, looking back, I knew you were just trying to protect me. You always knew how far to let me go without letting me completely fall flat. You taught me to not be so hard on myself, but to always push forward and to try my utmost best.
When we struggled with everything with Brooklynn, you were always there no matter what. You would drop everything and help me. When I couldn't do anything because I was on bedrest, you came to my house every day so that I could spend time with Izzy while Sam was at work. You didn't have to do that. But you knew what I needed and you sacrificed everything else for me. I will never be able to repay you for everything you have ever given me.
My kids are better because of you. They have an amazing nana who sacrifices everything for them as well. They are learning so many life lessons that I couldn't even begin to teach. I know that I can work full time, because they are being raised by an amazing woman along with us. Those memories they are creating are going to last a lifetime and I am so happy for that.
Mom, I want you to know that not only do I love you as my mom, but I love you as one of my best friends!! Thank you for everything you have ever done. It will never go unappreciated - I just hope you know how much you are appreciated and loved!
Love you always and forever, and to the moon and back,
Your youngest daughter, your surprise :)
Tuesday, April 30, 2013
FirstSteps Appreciation Letter
I wrote a letter of appreciation to the head of the FirstSteps program. They asked if I could come to present at Jefferson City to the board of directors, but I was not able to, so I wrote a letter for them to read. Here it is just for my own keepsake...
"My name is Beckie and my husband is Sam. We wanted to send out a big thank you to the FirstSteps’ program, as they were very helpful with our youngest daughter Brooklynn. A little background as to how we got involved in FirstSteps. Since our daughter was a couples months of age, we have been followed by many specialists due to a large head size. Nobody could quite figure out what was wrong, but she kept hitting her milestones on the late side of normal. At our 2 year check up, it was found that she was starting to fall behind in her milestones, mostly her speech. Brooklynn was only able to vocalize about 25 words, and most of these were unclear. When we couldn’t understand what she was trying to say, she was starting to become aggressive by biting.
Our pediatrician recommended we get involved in Hearing and Speech at our local children’s hospital. We did an evaluation, and they found that she had some speech delays, but our insurance would not cover therapy, as she had no neurological diagnosis. At this time, we had no explanation as to why she was having delays, and therefore we struggled with getting her services that she needed. I was informed about the amazing program called FirstSteps. My pediatrician made the referral, and within a month, we were scheduled to meet with Toni Harrison, and our evaluation was completed. Due to her large head size and speech delays, we qualified for services. We were approved for 1 hour of speech therapy a week with Tina Kemp. By July, we were getting weekly therapy sessions in our home. Within a month of therapy, it was discovered that my daughter had some other delays and hypotonia issues that very well could have gone unnoticed until she fell further behind. She discovered that Brooklynn had some upper extremity hypotonia, and had trouble holding her own body weight on her arms, had trouble maintaining a sitting position for long periods of time, and had trouble with her fine motor skills. She had some sensory issues, including having difficulty with working with play-doh, struggled with allowing Tina to touch near her mouth, whether it be with a Z-vibe, a chewy tube, or just hands. She also demonstrated rigidity in her play skills. With the request of Tina, we were able to get special instructor Shannon Crim involved as well.
These 2 amazing women helped to make so many changes to our lives. They taught us skills to help our daughter not only with her speech, but with her strength and her ability to branch out her play skills. We were taught to give her choices, how to word our phrases to help her copy our words, invite ourselves into her world slowly during play so she would allow us to change her play pattern. They gave not only us tips, but also her school tips on how to help her with transitions. They even taught her older sister Isabella ways to interact with Brooklynn to help her, which made my oldest feel like she was an active participant. We utilized songs and timers to help her move on from an activity that before would have caused a meltdown.
We were amazed at the progress our daughter made in the short time we were blessed with FirstSteps. By her third birthday, she was using sentences, able to express her needs, her core strength improved, and her ability to do fine motor tasks such as stringing beads and picking up small objects, improved greatly. Her agility improved along with her strength. Before therapy became involved, Brooklynn fell a lot, and she didn’t have the strength to catch herself, so she hit her head many times. Now, with the help of Tina and the strengthening exercises they taught us to utilize at home, she is able to catch herself when she falls, as well as has much better balance and coordination than before. They helped us in making referrals, such as Physical Therapy at our local hospital to get HotDog inserts for her shoes due to my daughter’s hypotonia in her lower extremities. They helped us in the process of getting the referral to the Early Childhood Center at our school district, where she now gets special education and speech.
In November, we received a diagnosis of PTEN Hamartoma Tumor Syndrome, which explained many of Brooklynn’s issues, including her speech delay, developmental delay, as well as her hypotonia issues. Tina and Shannon helped us through this diagnosis as well, and gave us tools we could use to make sure we provided our daughter with the best support and best possible chance to catch up to her peers, or at least not fall further behind. They gave us an amazing start to getting the services our daughter needs. As a full time working mom, the convenience of having them come to our house for services was undeniable. We will never forget all the FirstSteps program provided us. Your program makes such an amazing difference in so many childrens’ lives in so many ways. Your program gave my daughter the tools to interact with not only us, but other adults and peers. Thank you so much for your program.
Sincerely,
Beckie and Sam Palmer
"My name is Beckie and my husband is Sam. We wanted to send out a big thank you to the FirstSteps’ program, as they were very helpful with our youngest daughter Brooklynn. A little background as to how we got involved in FirstSteps. Since our daughter was a couples months of age, we have been followed by many specialists due to a large head size. Nobody could quite figure out what was wrong, but she kept hitting her milestones on the late side of normal. At our 2 year check up, it was found that she was starting to fall behind in her milestones, mostly her speech. Brooklynn was only able to vocalize about 25 words, and most of these were unclear. When we couldn’t understand what she was trying to say, she was starting to become aggressive by biting.
Our pediatrician recommended we get involved in Hearing and Speech at our local children’s hospital. We did an evaluation, and they found that she had some speech delays, but our insurance would not cover therapy, as she had no neurological diagnosis. At this time, we had no explanation as to why she was having delays, and therefore we struggled with getting her services that she needed. I was informed about the amazing program called FirstSteps. My pediatrician made the referral, and within a month, we were scheduled to meet with Toni Harrison, and our evaluation was completed. Due to her large head size and speech delays, we qualified for services. We were approved for 1 hour of speech therapy a week with Tina Kemp. By July, we were getting weekly therapy sessions in our home. Within a month of therapy, it was discovered that my daughter had some other delays and hypotonia issues that very well could have gone unnoticed until she fell further behind. She discovered that Brooklynn had some upper extremity hypotonia, and had trouble holding her own body weight on her arms, had trouble maintaining a sitting position for long periods of time, and had trouble with her fine motor skills. She had some sensory issues, including having difficulty with working with play-doh, struggled with allowing Tina to touch near her mouth, whether it be with a Z-vibe, a chewy tube, or just hands. She also demonstrated rigidity in her play skills. With the request of Tina, we were able to get special instructor Shannon Crim involved as well.
These 2 amazing women helped to make so many changes to our lives. They taught us skills to help our daughter not only with her speech, but with her strength and her ability to branch out her play skills. We were taught to give her choices, how to word our phrases to help her copy our words, invite ourselves into her world slowly during play so she would allow us to change her play pattern. They gave not only us tips, but also her school tips on how to help her with transitions. They even taught her older sister Isabella ways to interact with Brooklynn to help her, which made my oldest feel like she was an active participant. We utilized songs and timers to help her move on from an activity that before would have caused a meltdown.
We were amazed at the progress our daughter made in the short time we were blessed with FirstSteps. By her third birthday, she was using sentences, able to express her needs, her core strength improved, and her ability to do fine motor tasks such as stringing beads and picking up small objects, improved greatly. Her agility improved along with her strength. Before therapy became involved, Brooklynn fell a lot, and she didn’t have the strength to catch herself, so she hit her head many times. Now, with the help of Tina and the strengthening exercises they taught us to utilize at home, she is able to catch herself when she falls, as well as has much better balance and coordination than before. They helped us in making referrals, such as Physical Therapy at our local hospital to get HotDog inserts for her shoes due to my daughter’s hypotonia in her lower extremities. They helped us in the process of getting the referral to the Early Childhood Center at our school district, where she now gets special education and speech.
In November, we received a diagnosis of PTEN Hamartoma Tumor Syndrome, which explained many of Brooklynn’s issues, including her speech delay, developmental delay, as well as her hypotonia issues. Tina and Shannon helped us through this diagnosis as well, and gave us tools we could use to make sure we provided our daughter with the best support and best possible chance to catch up to her peers, or at least not fall further behind. They gave us an amazing start to getting the services our daughter needs. As a full time working mom, the convenience of having them come to our house for services was undeniable. We will never forget all the FirstSteps program provided us. Your program makes such an amazing difference in so many childrens’ lives in so many ways. Your program gave my daughter the tools to interact with not only us, but other adults and peers. Thank you so much for your program.
Sincerely,
Beckie and Sam Palmer
Monday, April 22, 2013
My Testing Results
I received a phone call on Friday from the genetics counselor. My carrier testing results came back for the alpha-5 reductase deficiency. It showed that I am, in fact, a carrier for this deficiency. Which means Sam goes to the second level of testing for the carrier status to see if he is a carrier.
What does this mean as it stands right now? Right now, Brooklynn might have received the carrier gene from me. We would never have known we were carriers except for the fact that Brooklynn had a large cambut of genetic testing done, and this was an incidental finding. This means we do not have any symptoms of the disease, and the only way of passing this disease on to children is if we marry someone else (or produce with someone else I guess) who is also a carrier, at which point we would have a 1 in 4 chance of having a baby who has this genetic disease. It would only effect boys, because the hormones it effects is the male sex hormone, not the female hormones.
So if Sam's test comes back positive as also being a carrier, we are officially done having children. If his test comes back negative as being a carrier, we MIGHT be done having children. It is open for discussion. Either way, or fate as having more children is unknown, and leaning more towards us only being a family of 4. There is nothing wrong with being a family of 4. It is just a big adjustment to thinking that way. We always thought we would be a family of 5 or 6. I guess God might have other plans for us...
What does this mean as it stands right now? Right now, Brooklynn might have received the carrier gene from me. We would never have known we were carriers except for the fact that Brooklynn had a large cambut of genetic testing done, and this was an incidental finding. This means we do not have any symptoms of the disease, and the only way of passing this disease on to children is if we marry someone else (or produce with someone else I guess) who is also a carrier, at which point we would have a 1 in 4 chance of having a baby who has this genetic disease. It would only effect boys, because the hormones it effects is the male sex hormone, not the female hormones.
So if Sam's test comes back positive as also being a carrier, we are officially done having children. If his test comes back negative as being a carrier, we MIGHT be done having children. It is open for discussion. Either way, or fate as having more children is unknown, and leaning more towards us only being a family of 4. There is nothing wrong with being a family of 4. It is just a big adjustment to thinking that way. We always thought we would be a family of 5 or 6. I guess God might have other plans for us...
Brooklynn's Tonsils and Adenoids - GONE!
It has been a whirlwind these last couple of weeks. April 6th Izzy had her dance recital (videos were posted on facebook - I must say she did an AMAZING job!!). April 9th, I was able to move Brooklynn's ENT appointment up from the following Friday. She had been snoring A LOT more, and was definitely struggling to get air in throughout the night with her sleep. So we took her in to Dr. B's office. He took one look at her throat and said "Those suckers need to come out". We walked out of the office with her adenoid and tonsil removal surgery scheduled for Monday, April 15th.
Monday, we went in to the Outpatient Surgery Center. We arrived at 7:30, by 8:30 they were taking her back. She was not a happy camper - she knew something was going on when we had to change her out of her pajamas into a hospital gown. She was screaming and kicking. When the nurse took her back, she was reaching for us (that was hard!). By 9:15, we were talking to the ENT surgeon. He said she did well. He told us that her tonsils and adenoids were definitely large (even the anesthesiologist made a comment). He told us that her throat was probably 90% occluded by the size of her tonsils and adenoids, and that this was definitely the right decision.
We were able to see her by 9:30. They had to give her some racemic epinephrine breathing treatment because she woke up out of anesthesia with a barking cough (no news to us - if she wakes up upset ever she usually has a barking cough and anesthesia is no fun). Other than that, we were kept at the surgery center for 2 hours to pump her full of fluids and to watch her, and we were home by 12:30. She did amazingly well, with only really 1 bad day (the following day she didn't want to eat, drink, or take her pain medications until daddy got home from work). They told us day 5-7 would be hard days, but she has done an amazing job. I think it is to her benefit that her pain tolerance is ridiculously high. Only had to give her a few doses of tylenol throughout the weekend.
And I must say - listening to her sleep at night is AMAZING! Hardly any snoring, she is able to breath through her nose! you can tell her throat is still a little sore, because she refuses to open up her mouth (so I have not been able to get an after picture to compare to her before), and she continues to have trouble with her appetite. At times she is a little more fussy than normal, but that is to be expected. Overall, I am very excited we are through this surgery, and able to move on!
Monday, we went in to the Outpatient Surgery Center. We arrived at 7:30, by 8:30 they were taking her back. She was not a happy camper - she knew something was going on when we had to change her out of her pajamas into a hospital gown. She was screaming and kicking. When the nurse took her back, she was reaching for us (that was hard!). By 9:15, we were talking to the ENT surgeon. He said she did well. He told us that her tonsils and adenoids were definitely large (even the anesthesiologist made a comment). He told us that her throat was probably 90% occluded by the size of her tonsils and adenoids, and that this was definitely the right decision.
We were able to see her by 9:30. They had to give her some racemic epinephrine breathing treatment because she woke up out of anesthesia with a barking cough (no news to us - if she wakes up upset ever she usually has a barking cough and anesthesia is no fun). Other than that, we were kept at the surgery center for 2 hours to pump her full of fluids and to watch her, and we were home by 12:30. She did amazingly well, with only really 1 bad day (the following day she didn't want to eat, drink, or take her pain medications until daddy got home from work). They told us day 5-7 would be hard days, but she has done an amazing job. I think it is to her benefit that her pain tolerance is ridiculously high. Only had to give her a few doses of tylenol throughout the weekend.
And I must say - listening to her sleep at night is AMAZING! Hardly any snoring, she is able to breath through her nose! you can tell her throat is still a little sore, because she refuses to open up her mouth (so I have not been able to get an after picture to compare to her before), and she continues to have trouble with her appetite. At times she is a little more fussy than normal, but that is to be expected. Overall, I am very excited we are through this surgery, and able to move on!
Wednesday, April 3, 2013
Question Posed on PTEN World....
I follow PTEN World on Facebook. It is a place where the person who runs it posts updates on anything that could be associated with PTEN mutation (updates on cancer organizations, autism, National Organization of Rare Diseases. If you follow me on this blog, and you would like to stay up to date on issues that we might face throughout our journey with this PTEN mutation, like them on facebook. It opens my eyes to other issues, not just PTEN related issues. But yesterday they posted a question that hit home. "What is one thing you wish your loved ones knew about life with a PTEN condition?"
This got me thinking. I have probably said this over and over in my blog, so if you are tired of hearing my ramblings - don't read. But if you want to understand a little of what goes on in my braind - continue to read. What do I wish others knew? That when it comes to your kid, the unknown is scary. If it was me who had this mutation, I could deal with it. I would fear that cancer would take me away before my kids were grown, but this is a fear I have any way. I could deal with any pain, or problems socially I would face. But it's my kid. I fear that she will get a growth that will affect her - either her ability to be physically active, affect her ability to socialize with others, or makes her feel like others are negatively looking at her. I am afraid that some days her challenges might be hard for her to face.
I am fearful that as more research is being done, they will find this mutation is linked to more things. Right now, it is shown to be with developmental delays (she has a few of these), large head (we all know she has this), speech delays (she struggles with this but continues to make improvements). They are finding its' link with AV malformations (problems in the arteries and veins) and these can pop up at any time. She will probably need her tonsils removed. And we have all read about the tumor growths (benign and cancerous that she is at risk for). She is at risk for intestinal polyps, and so with every diaper change, I have to make sure I find no blood. This is our life from here on out. I have to be a step ahead of everything and catch stuff at the first sign of problems.
But they are doing more research. And they continue to find other things this might be linked to.
But than there is hope. With continued research, they will continue to find ways to treat the symptoms. They are doing research on a drug that some people are taking when they find out about cancer, and it slows the growth of cancer. So potentially, could there be a drug that wipes out her chance she will get a cancer? Potentially can this be obsolete, so when she is older, she doesn't have to worry about her decision to have a child herself? That she, herself, could be a mom and not have to worry what this means?
I am fearful for the day she starts asking me questions, and I won't have the right answers for her. I worry that her life will be filled with doctors' appointments, tests, etc and she won't know what it's like to be a "normal" kid. I am afraid of her having struggles in school, and if budgets are cut, will they cut special education and her ability to get services that she needs? The unknown freaks me out.
And I do struggle with this knowledge every day. I really do want my family and friends to know I am working on this. I really want to get to a point that I don't let it overwhelm me. But I feel like I have to stay up on the research. I have to read the journal articles. Because nobody truly knows a lot about this. So I HAVE to be the expert. So if I look like I am engrossing myself in it too much, I probably am. I don't want to miss any reports of it being linked to anything I don't know about and I miss the symptoms.
And it makes my eyes so much wider at work. The terms we use, the phrases we say. When parents are waiting for a test result that takes 6 weeks, we tell them not to worry. "Don't worry, we are testing for a genetic mutation that may affect your life forever - but I wouldn't worry until we have the results". Or when we use the phrasing "We don't know what it means, it could mean nothing, or it could mean she has x, y, or z" - we are setting these parents off into a world of unknowns, and it makes me fearful for them. It makes me want to hug them and say I am where you are. It makes me want to give them all the tools they would need on the outside so if this nothing does become something, they would know where to look. If it wasn't for where I work, I would not have found many of the resources we have found for Brooklynn. And I would feel helpless. And than I struggle because I keep my private life private (besides the blog) - I want to shout from the rooftops and open people's eyes to things that seem not so big (and honestly maybe it isn't so big and I just stress about it for no reason). I dont' know how to get our story out there. I don't want to blast it out, but I want to help another mom who might be struggling like me. Not saying I am where I could help. But eventually, I want to help others. I feel powerless right now, and probably because I feel so powerless over my own life.
So to my family and friends - I am adjusting. I would like to talk about it if you want to know about it. I am trying to adjust to this. I am trying to not let it engulf me. And if I ever dwell on it too much - you can knock some sense into me and say shape up! That's the long of it. My response to the question.
What is interesting is later on PTEN world, they posted as a family member or friend what do you want to know about PTEN? This made me think as well - what do others want to know? Are there any questions people would like to ask? If so, please ask. I probably won't have the answers, but maybe it would get a perspective or a question to bring me back to space. I feel like sometimes others don't want to ask, don't care to ask, I dont' know. But it is OKAY to ask. Just saying.
This got me thinking. I have probably said this over and over in my blog, so if you are tired of hearing my ramblings - don't read. But if you want to understand a little of what goes on in my braind - continue to read. What do I wish others knew? That when it comes to your kid, the unknown is scary. If it was me who had this mutation, I could deal with it. I would fear that cancer would take me away before my kids were grown, but this is a fear I have any way. I could deal with any pain, or problems socially I would face. But it's my kid. I fear that she will get a growth that will affect her - either her ability to be physically active, affect her ability to socialize with others, or makes her feel like others are negatively looking at her. I am afraid that some days her challenges might be hard for her to face.
I am fearful that as more research is being done, they will find this mutation is linked to more things. Right now, it is shown to be with developmental delays (she has a few of these), large head (we all know she has this), speech delays (she struggles with this but continues to make improvements). They are finding its' link with AV malformations (problems in the arteries and veins) and these can pop up at any time. She will probably need her tonsils removed. And we have all read about the tumor growths (benign and cancerous that she is at risk for). She is at risk for intestinal polyps, and so with every diaper change, I have to make sure I find no blood. This is our life from here on out. I have to be a step ahead of everything and catch stuff at the first sign of problems.
But they are doing more research. And they continue to find other things this might be linked to.
But than there is hope. With continued research, they will continue to find ways to treat the symptoms. They are doing research on a drug that some people are taking when they find out about cancer, and it slows the growth of cancer. So potentially, could there be a drug that wipes out her chance she will get a cancer? Potentially can this be obsolete, so when she is older, she doesn't have to worry about her decision to have a child herself? That she, herself, could be a mom and not have to worry what this means?
I am fearful for the day she starts asking me questions, and I won't have the right answers for her. I worry that her life will be filled with doctors' appointments, tests, etc and she won't know what it's like to be a "normal" kid. I am afraid of her having struggles in school, and if budgets are cut, will they cut special education and her ability to get services that she needs? The unknown freaks me out.
And I do struggle with this knowledge every day. I really do want my family and friends to know I am working on this. I really want to get to a point that I don't let it overwhelm me. But I feel like I have to stay up on the research. I have to read the journal articles. Because nobody truly knows a lot about this. So I HAVE to be the expert. So if I look like I am engrossing myself in it too much, I probably am. I don't want to miss any reports of it being linked to anything I don't know about and I miss the symptoms.
And it makes my eyes so much wider at work. The terms we use, the phrases we say. When parents are waiting for a test result that takes 6 weeks, we tell them not to worry. "Don't worry, we are testing for a genetic mutation that may affect your life forever - but I wouldn't worry until we have the results". Or when we use the phrasing "We don't know what it means, it could mean nothing, or it could mean she has x, y, or z" - we are setting these parents off into a world of unknowns, and it makes me fearful for them. It makes me want to hug them and say I am where you are. It makes me want to give them all the tools they would need on the outside so if this nothing does become something, they would know where to look. If it wasn't for where I work, I would not have found many of the resources we have found for Brooklynn. And I would feel helpless. And than I struggle because I keep my private life private (besides the blog) - I want to shout from the rooftops and open people's eyes to things that seem not so big (and honestly maybe it isn't so big and I just stress about it for no reason). I dont' know how to get our story out there. I don't want to blast it out, but I want to help another mom who might be struggling like me. Not saying I am where I could help. But eventually, I want to help others. I feel powerless right now, and probably because I feel so powerless over my own life.
So to my family and friends - I am adjusting. I would like to talk about it if you want to know about it. I am trying to adjust to this. I am trying to not let it engulf me. And if I ever dwell on it too much - you can knock some sense into me and say shape up! That's the long of it. My response to the question.
What is interesting is later on PTEN world, they posted as a family member or friend what do you want to know about PTEN? This made me think as well - what do others want to know? Are there any questions people would like to ask? If so, please ask. I probably won't have the answers, but maybe it would get a perspective or a question to bring me back to space. I feel like sometimes others don't want to ask, don't care to ask, I dont' know. But it is OKAY to ask. Just saying.
Thursday, March 28, 2013
Brooklynn's Developmental Evaluation Results
2 weeks ago Brooklynn met with the Autism Spectrum Disorder Team (which included a psychologist, a speech pathologist, and an occupational therapist - the developmental psychologist was not available at our appointment). Yesterday, I went in to meet with the team to see our results for the developmental and their evaluation on whether Brooklynn fit into the Autism Spectrum. It was a good meeting, lasted about 1 hour. We have been through a lot of this before (between the school district and other evaluations) so I was pretty confident that I knew what to expect.
First things first - I was very excited to see that they did not feel like she fit into the autism spectrum disorder category. They felt like on paper, she could have behaviors that look like she might fit, but when you meet her and she warms up to you, she does not display the characteristics of autism. She does too much eye contact, responds to your voice, attempts to get your attention, etc. They did state, however, that they feel like a big problem of hers is anxiety. She does not feel comfortable in new situations or with new people (as most kids don't), but hers is to the a higher extent since it is affecting her ability to interact with kids her age, and makes her shut down. On the Autism Coding system they use, which she showed no evidence of autism spectrum.
A big barrier to her is her speech. They evaluated multiple levels of speech, including her receptive (what she understands) and her expressive (what she says) language. Standard scores between 85-115 are normal. Brooklynn's score was 69 (ranking in 2%). Subset scores (they are combined to equal the standard score) range between 7-13 for normal. Her sentence structure was 8 (25%), word structure 2 (0.4%), and expressive vocabulary was 4 (2%) She had trouble answer questions and responding to things, which is below her age level. Her articulation score was also low at 68, ranking in 8%, making her raw score 54%. So all these numbers mean that she has a moderate to severe articulation disorder as well as a moderate receptive and expressive disorder. This is much different than when we tested her at Children's the first time, where it was only a mild. They felt it was due to the fact that at this age kids are learning at such a fast pace for language, and she was already slightly behind, so she is still working on her other skills, and therefore has just fallen behind her peers due to her inability to catch up at this time. Again, with speech therapy, hopefully she will get up to her peers.
Her "IQ" score was on the lower side of normal. She had things that she was variant on, ranging from impaired/intellectual disability to average. Her adaptive behavior scale was used to assess her functional skills. Her scores were on the borderline range. She was found to generally be functioning on a young 2 year old level. They told me that sometimes, they see these types of test results on children can potentially have more learning disabilities.
Occupational Therapy looked at her, and felt that she definitely shows some impairments in her skills. Her gross motor skills are at 87 score (30 month developmental age); fine motor is 57 score (24 month developmental age), and her self-help skills are 22 (18 months of age. She felt like she demonstrated deficits mostly in skills that required accuracy (she would start to tremble when she needed to use her fine motor skills), as well as visual motor skills, and they would recommend possibly getting occupational therapy involved at some point in her school, or even at Children's Mercy during the summer.
So overall, we have some new diagnosis-
1. Adjustment Disorder with Anxious mood - this could be the start of her symptoms for an underlying anxiety disorder, which will have to monitor her for, or she might outgrow as her language skills improve.
2. Receptive and Expressive Language disorder
3. Articulation Disorder
4. Functioning in the Delayed Range
So overall, it definitely makes me feel better that she is not autistic. I do struggle with the fact, though, that now we have this new diagnosis that there is not this huge support system for. I don't hear about anxiety disorders in young children very often. I hear about parents who have autistic kids, and there is a huge network of parents and resources out there for them. I feel some days that I am swimming alone in this large see of a child with special needs. I don't feel like we fit into any one category. I know that most kids don't, and I don't want to group her in, but it would be nice if I could find a network of parents who had similar situations. And I feel like I am alone in this adventure. I know there are lots of people out there who are dealing with different struggles with their children. Right now, Brooklynn is getting all the help she needs for her struggles that she is facing. But I feel like sometimes I am not getting help to get over my own personal hurdle of fear of the unknown. I will clear it one day, I just am not sure when.
First things first - I was very excited to see that they did not feel like she fit into the autism spectrum disorder category. They felt like on paper, she could have behaviors that look like she might fit, but when you meet her and she warms up to you, she does not display the characteristics of autism. She does too much eye contact, responds to your voice, attempts to get your attention, etc. They did state, however, that they feel like a big problem of hers is anxiety. She does not feel comfortable in new situations or with new people (as most kids don't), but hers is to the a higher extent since it is affecting her ability to interact with kids her age, and makes her shut down. On the Autism Coding system they use, which she showed no evidence of autism spectrum.
A big barrier to her is her speech. They evaluated multiple levels of speech, including her receptive (what she understands) and her expressive (what she says) language. Standard scores between 85-115 are normal. Brooklynn's score was 69 (ranking in 2%). Subset scores (they are combined to equal the standard score) range between 7-13 for normal. Her sentence structure was 8 (25%), word structure 2 (0.4%), and expressive vocabulary was 4 (2%) She had trouble answer questions and responding to things, which is below her age level. Her articulation score was also low at 68, ranking in 8%, making her raw score 54%. So all these numbers mean that she has a moderate to severe articulation disorder as well as a moderate receptive and expressive disorder. This is much different than when we tested her at Children's the first time, where it was only a mild. They felt it was due to the fact that at this age kids are learning at such a fast pace for language, and she was already slightly behind, so she is still working on her other skills, and therefore has just fallen behind her peers due to her inability to catch up at this time. Again, with speech therapy, hopefully she will get up to her peers.
Her "IQ" score was on the lower side of normal. She had things that she was variant on, ranging from impaired/intellectual disability to average. Her adaptive behavior scale was used to assess her functional skills. Her scores were on the borderline range. She was found to generally be functioning on a young 2 year old level. They told me that sometimes, they see these types of test results on children can potentially have more learning disabilities.
Occupational Therapy looked at her, and felt that she definitely shows some impairments in her skills. Her gross motor skills are at 87 score (30 month developmental age); fine motor is 57 score (24 month developmental age), and her self-help skills are 22 (18 months of age. She felt like she demonstrated deficits mostly in skills that required accuracy (she would start to tremble when she needed to use her fine motor skills), as well as visual motor skills, and they would recommend possibly getting occupational therapy involved at some point in her school, or even at Children's Mercy during the summer.
So overall, we have some new diagnosis-
1. Adjustment Disorder with Anxious mood - this could be the start of her symptoms for an underlying anxiety disorder, which will have to monitor her for, or she might outgrow as her language skills improve.
2. Receptive and Expressive Language disorder
3. Articulation Disorder
4. Functioning in the Delayed Range
So overall, it definitely makes me feel better that she is not autistic. I do struggle with the fact, though, that now we have this new diagnosis that there is not this huge support system for. I don't hear about anxiety disorders in young children very often. I hear about parents who have autistic kids, and there is a huge network of parents and resources out there for them. I feel some days that I am swimming alone in this large see of a child with special needs. I don't feel like we fit into any one category. I know that most kids don't, and I don't want to group her in, but it would be nice if I could find a network of parents who had similar situations. And I feel like I am alone in this adventure. I know there are lots of people out there who are dealing with different struggles with their children. Right now, Brooklynn is getting all the help she needs for her struggles that she is facing. But I feel like sometimes I am not getting help to get over my own personal hurdle of fear of the unknown. I will clear it one day, I just am not sure when.
Thursday, March 14, 2013
Developmental Appointment
Yesterday, we had Brooklynn's developmental appointment. It was at CMH South, and was a 2 1/2 hour appointment. We met with Dr. Little, who is a psychologist (mostly specialized in behavior disorders such as autism), speech specialist, and occupational therapist. We were supposed to meet with a developmental psychologist but she was out with a sick child, but I was told they got an appropriate evaluation they felt at this time, and that she has already been through "a gambut of testing". So she did a bunch of testing, and at first was very nervous, and she finally started to open up. I heard the words "anxiety" and that she "seems to be on the developmental play skills of a 2 year old". But I won't know any interpretation for 2 weeks. We got back 3/27 to get the evaluations. I am so nervous. I didn't hear the words autism, so I don't know if that is out of the picture, or if they felt her anxiety is due to autism. I have no clue. I will try to forget about everything until 2 weeks from now.
And not only do I have to wait for that, but I have another 6 week time frame to wait for.
Tuesday, I started the process of having my labs drawn again. This time, it is to find out if I am a carrier of the alpha-5 reductase deficiency, which was incidentally found with Brooklynn's microarray. This process starts with me, and can take up to 4 tests, and each test takes 6 weeks each to get results. So we will start with me, and then depending on my test we will see what the next step will be. This is pretty much to decide if we will be having more kids or not. If both of us are carriers, than we will not, if neither of us are carriers than we will. If one of us is carriers, that's up for discussion.
And not only do I have to wait for that, but I have another 6 week time frame to wait for.
Tuesday, I started the process of having my labs drawn again. This time, it is to find out if I am a carrier of the alpha-5 reductase deficiency, which was incidentally found with Brooklynn's microarray. This process starts with me, and can take up to 4 tests, and each test takes 6 weeks each to get results. So we will start with me, and then depending on my test we will see what the next step will be. This is pretty much to decide if we will be having more kids or not. If both of us are carriers, than we will not, if neither of us are carriers than we will. If one of us is carriers, that's up for discussion.
Wednesday, March 13, 2013
Brooklynn is 3!!
Dear Brooklynn,
So you turned 3 this last week. And boy it seem slike it has gone quickly. You have taught me more in 3 years than anybody ever has. You are so strong, fun loving, and excited about everything. You have achieved so much this last year. When you turned 2, you had a rough time with your communication, and now you are saying 3-4 word sentences. You are enjoying playing with your sister and cousins. You love to get dressed up in beautiful outfits, you love to twirl in dresses, you enjoy getting make up from your sister an dlooking "petty". You are such a strong little girl.
Your laugh is infectious. Your smile is amazing. When you see me or your daddy, you always come running to us and are so excited. You love to wrap your arms around our necks and squeeze tight. Sometimes, you just want us to hold you for a couple of minutes like that. You are strong willed - you don't do anything you don't want to.
You are learning how to do puzzles, we are working on your colors (but your favorite color is "yeyow" - anything is yellow to you :). You enjoy playing with Barbies, princesses, legos, and dress up. You look up to your sister, and try to follow everything she does. Your older sister adores you, and tries to take care of you. She is your second mother. You enjoy going to both sets of grandparents house. Your best friends are your sister and cousins. You love looking at books (but you hate for me to read to you). You enjoy pointing to the pictures and saying the words out loud.
I love everything about you. Even your tantrums where you throw yourself on the ground, and don't move, are adorable to me. You love to grab our faces and whisper in our ears.
Thank you for all you have taught me in your short 3 years. You have through so many doctors appointments, tests, and labs, and yet you still are the happiest child I know. You take everything in stride, and are always a laid back child.
I love you forever, mostest 'ostest, and from here to the moon,
your mom.
So you turned 3 this last week. And boy it seem slike it has gone quickly. You have taught me more in 3 years than anybody ever has. You are so strong, fun loving, and excited about everything. You have achieved so much this last year. When you turned 2, you had a rough time with your communication, and now you are saying 3-4 word sentences. You are enjoying playing with your sister and cousins. You love to get dressed up in beautiful outfits, you love to twirl in dresses, you enjoy getting make up from your sister an dlooking "petty". You are such a strong little girl.
Your laugh is infectious. Your smile is amazing. When you see me or your daddy, you always come running to us and are so excited. You love to wrap your arms around our necks and squeeze tight. Sometimes, you just want us to hold you for a couple of minutes like that. You are strong willed - you don't do anything you don't want to.
You are learning how to do puzzles, we are working on your colors (but your favorite color is "yeyow" - anything is yellow to you :). You enjoy playing with Barbies, princesses, legos, and dress up. You look up to your sister, and try to follow everything she does. Your older sister adores you, and tries to take care of you. She is your second mother. You enjoy going to both sets of grandparents house. Your best friends are your sister and cousins. You love looking at books (but you hate for me to read to you). You enjoy pointing to the pictures and saying the words out loud.
I love everything about you. Even your tantrums where you throw yourself on the ground, and don't move, are adorable to me. You love to grab our faces and whisper in our ears.
Thank you for all you have taught me in your short 3 years. You have through so many doctors appointments, tests, and labs, and yet you still are the happiest child I know. You take everything in stride, and are always a laid back child.
I love you forever, mostest 'ostest, and from here to the moon,
your mom.
Neurosurgery Appointment
Brooklynn had her neurosurgery follow up on March 6th. We had a rapid MRI done, and this time we didn't even have to meet up with Dr. H, but instead saw his Nurse Practitioner. She told me that the MRI looked good and that Brooklynn's ventricles have looked the same, and are not enlarged. I asked about symptoms for AVMs and Tumors (which she has a small risk for due to her Gene mutation), and she told me if she starts having seizures, becomes clumsy, complains of headaches, or other enurological symptoms I need to probably bring it up to her pediatrician and we might need to evaluate her for these in her brain. Other than that, we have been officially RELEASED from neurosurgery!! WOOHOOO!!!!
Tuesday, March 5, 2013
Girls' Yearly Check Up with Pediatrician
Today we had the girls' pediatrician appointment with Dr. B. I have to say, every time I go, I thoroughly enjoy this doctor. She answers my questions before I can even ask them. She is thorough, and she talks to Izzy and teaches her things that I struggle with. The check up ended up going pretty good. It's always nice to see how much the girls have grown and that everything is okay. We finally got to go to a doctor with any new referrals. :) That is always a plus.
So we will start with Izzy:
Height 45.25 inches 93%ile
Weight 41.0 pounds 60.04%ile
BMI 14.08 Index 16.06%
BP 111/63 (YIKES! they rechecked it though and it was 96/62 - so much better) I guess she takes after daddy and has anxiety at the doctors.
Temperature 98.6
Heart Rate 100/minute
Respiratory Rate 20/minute
Hemoglobin 12.2 (so normal)
She taught her stranger danger, answered some questions I had about her stomach pains (she feels like it might be behavior, but need to make sure she is regular in her bowel movements) - decrease dairy, carbs, etc (so pretty much everything Izzy enjoys eating) to try to supplement more Fiber into her diet. She had to get her kindergarten shots (DTAP and IPV in one shot, MMRV in another). Izzy cried and was upset, but at least this time she did't scream at the top of her lungs "I DON'T WANT A SHOT!!" so we made improvements. We walked out and she kept crying "my arm hurts, my arm hurts - but I didn't scream this time". I was proud that she is learning how to handle her emotions.
Brooklynn:
Height 39.5 inches 96.09%ile (she grew about 4 inches in 1 year!)
Weight 37.2 pounds 94.38%ile
BMI 16.76 Index 76.63%ile
BP 74/55
Temperature 97.9 F
Heart Rate 120/minute
Respiratory Rate 24/min
Dr. B said that it is a good thing she is so tall because that helps decrease her body mass index percentile (anything over 85% is concern for obesity). She said that Brooklynn is the average size of a 4 year old. We talked about her asthma control, and that we have been off Flovent for <1 week but so far we are doing okay. She said that it's okay to wean her off, and just start back up if we need to. Also, we need to start allergy medicine. I updated her on her developmental evaluations from the school district and that we have an appointment tomorrow with neurosurgery and developmental at CMH next week. She said to just ask them to fax a letter to her so she can stay up to date on what they determine. She did say it might not be a bad idea to contact the Cleveland Clinic (which has a PTEN Clinic) just because they might be able to provide us with an idea of what is commonly seen, even though she is not developing too many concerns. She said right now we are having to go between different specialists, but not all of them are tied together, and if we can get a clinic that can tie everything together and give us a clear action plan on what to watch for and what our concerns are at this point. She said that it might be able to just be a contact, or they might even ask for us to come up there.
Overall it was a nice appointment. Validation for some of my questions, and also it was nice to hear "everything looks good". Those are always a nice dah.
Unfortunately, though, with this appointment, Brooklynn was late on her last day at school - and we totally missed bringing snacks, and they were going to celebrate her birthday today. Hopefully she was able to enjoy the rest of her last day at Hilltop. Today is a little bit of a sad day because we will be moving on to a different school. It will all work out in the end.
So we will start with Izzy:
Height 45.25 inches 93%ile
Weight 41.0 pounds 60.04%ile
BMI 14.08 Index 16.06%
BP 111/63 (YIKES! they rechecked it though and it was 96/62 - so much better) I guess she takes after daddy and has anxiety at the doctors.
Temperature 98.6
Heart Rate 100/minute
Respiratory Rate 20/minute
Hemoglobin 12.2 (so normal)
She taught her stranger danger, answered some questions I had about her stomach pains (she feels like it might be behavior, but need to make sure she is regular in her bowel movements) - decrease dairy, carbs, etc (so pretty much everything Izzy enjoys eating) to try to supplement more Fiber into her diet. She had to get her kindergarten shots (DTAP and IPV in one shot, MMRV in another). Izzy cried and was upset, but at least this time she did't scream at the top of her lungs "I DON'T WANT A SHOT!!" so we made improvements. We walked out and she kept crying "my arm hurts, my arm hurts - but I didn't scream this time". I was proud that she is learning how to handle her emotions.
Brooklynn:
Height 39.5 inches 96.09%ile (she grew about 4 inches in 1 year!)
Weight 37.2 pounds 94.38%ile
BMI 16.76 Index 76.63%ile
BP 74/55
Temperature 97.9 F
Heart Rate 120/minute
Respiratory Rate 24/min
Dr. B said that it is a good thing she is so tall because that helps decrease her body mass index percentile (anything over 85% is concern for obesity). She said that Brooklynn is the average size of a 4 year old. We talked about her asthma control, and that we have been off Flovent for <1 week but so far we are doing okay. She said that it's okay to wean her off, and just start back up if we need to. Also, we need to start allergy medicine. I updated her on her developmental evaluations from the school district and that we have an appointment tomorrow with neurosurgery and developmental at CMH next week. She said to just ask them to fax a letter to her so she can stay up to date on what they determine. She did say it might not be a bad idea to contact the Cleveland Clinic (which has a PTEN Clinic) just because they might be able to provide us with an idea of what is commonly seen, even though she is not developing too many concerns. She said right now we are having to go between different specialists, but not all of them are tied together, and if we can get a clinic that can tie everything together and give us a clear action plan on what to watch for and what our concerns are at this point. She said that it might be able to just be a contact, or they might even ask for us to come up there.
Overall it was a nice appointment. Validation for some of my questions, and also it was nice to hear "everything looks good". Those are always a nice dah.
Unfortunately, though, with this appointment, Brooklynn was late on her last day at school - and we totally missed bringing snacks, and they were going to celebrate her birthday today. Hopefully she was able to enjoy the rest of her last day at Hilltop. Today is a little bit of a sad day because we will be moving on to a different school. It will all work out in the end.
Happy 5th Birthday Izzy!
Isabella (or Izzy as you like to be called),
Wow I can't believe you are already 5. I know it is cliche, but it seems like only yesterday that I held your little tiny body in my arms, and fell in the minute my eyes laid on you. You have had my heart in your hands ever since. Every day you grow and learn, and every day my love for you grows. You have taught me more than you can ever imagine in 5 short years. You are full of so much love and enjoyment about life. Your curly hair and dark brown eyes are amazing. Your smile with two big girl teeth growing in on the bottom is infectious. Your laugh just makes any bad moods melt away. Your bear hugs make my heart melt even more.
You are always there to help, you want to try to learn how to be a big girl, and want to do big girl things. You are 5 going on 16. You love applying makeup, and occassionally you ask me to straighten your hair. You have a sense of humor. You are very concerned about doing the right thing, and are asking for permission often. You are learning your limits, and when it is okay to say no, but occassionally need reminders. You are full of adventure, and love to do things outside. There is nothing better than sitting reading you a book, or listening to you read to me, or cuddling and watching a movie with you and your sister.
What are your likes? You love playing with your little sister. You are the best big sister anybody could ever hope for. You encourage her to try new things, you are willing to share (most of the time), you want to teach her, and you are always there to give her a hug when you see that she is upset or sad. You enjoy dance. You are always dancing around the living room, in the backseat when you hear music, or in dance class. You love your Wiggles and Giggles class, and are learning the skills of ballet and tap. You are very excited for your recital coming up in a month. You love to sing. In fact, you sing any time you hear a song come on. Most of the time, you learn the songs and are able to sing them. You sing about what you are doing. You ask me if you can "sing this song" when one of my songs come on the radio. You love to play with your Barbies, your legos, your baby dolls, and you like to pretend you are a waitress, I am the chef, and your sister is the customer. You have such an enthusiasm for learning. You are always wanting to "do your homework" (which means you either are coloring in a book, practicing writing, practicing reading, or doing a workbook). You stress out when I ask you to get ready for bed if you are not quite done. You have an artistic side to you, and love to draw, and you also love practicing your letters. You love to make new friends. You go any where and you usually walk out with a new friend. You are very personable, and are always wanting to help others.
What are your dislikes? You still do not like things in costume (such as Mickey, Snoopy at WOF, Santa, the Easter Bunny). You pretty much go screaming the other way.
What you Have learned: You are learning to count - and can make it up to 39 without help. After that, you just need assistance with remembering the big number (40, 50, 60, etc), but can count between those numbers). You can write most of the letters, but need a little assistance with the bigger letters. You are able to recognize all your letters, and can write them all out (and you are now working on your lowercase). You are able to start putting words together, and are learning your prereading skills. You are learning what sounds the letters make, and sometimes can figure out how to spell and/or read a word just by sounding out the letters. You can write your name, Brooklynn's name, mommy, daddy, nana, papa, mason, sawyer, mia, sugar, and some other words with assistance. You are learning to use your words when you are upset. You tell me "that makes me very angry", "that hurts my feelings", and occassionally I have heard you use the phrase "that breaks my heart". You are learning how to do a cartwheel, how to stand on your hands, how to hopscotch, and even how to ride a big girl bike (you are able to brake using both the pedals and the handlebar brakes.
You truly are amazing Izzy, and I am very excited to see how much you grow in this next year. This year will be a big one - you will be starting Kindergarten in the fall. You will graduate to a big girl dance class. You will be trying some new and exciting things this year. I am very excited that I get to see all that you are becoming, and that I get to say that I am your mom. I thoroughly enjoy every second I have with you (even those trying times when you ask me the same question 10 times, or don't take no - I have to say you are definitely persistant) :). I never thought it would be possible, but my love for you grows every day. I thank God every day for this journey I get to take with you.
Love you always and forever, love you mostest ostest, from here to the moon and back,
your Mommy
Wow I can't believe you are already 5. I know it is cliche, but it seems like only yesterday that I held your little tiny body in my arms, and fell in the minute my eyes laid on you. You have had my heart in your hands ever since. Every day you grow and learn, and every day my love for you grows. You have taught me more than you can ever imagine in 5 short years. You are full of so much love and enjoyment about life. Your curly hair and dark brown eyes are amazing. Your smile with two big girl teeth growing in on the bottom is infectious. Your laugh just makes any bad moods melt away. Your bear hugs make my heart melt even more.
You are always there to help, you want to try to learn how to be a big girl, and want to do big girl things. You are 5 going on 16. You love applying makeup, and occassionally you ask me to straighten your hair. You have a sense of humor. You are very concerned about doing the right thing, and are asking for permission often. You are learning your limits, and when it is okay to say no, but occassionally need reminders. You are full of adventure, and love to do things outside. There is nothing better than sitting reading you a book, or listening to you read to me, or cuddling and watching a movie with you and your sister.
What are your likes? You love playing with your little sister. You are the best big sister anybody could ever hope for. You encourage her to try new things, you are willing to share (most of the time), you want to teach her, and you are always there to give her a hug when you see that she is upset or sad. You enjoy dance. You are always dancing around the living room, in the backseat when you hear music, or in dance class. You love your Wiggles and Giggles class, and are learning the skills of ballet and tap. You are very excited for your recital coming up in a month. You love to sing. In fact, you sing any time you hear a song come on. Most of the time, you learn the songs and are able to sing them. You sing about what you are doing. You ask me if you can "sing this song" when one of my songs come on the radio. You love to play with your Barbies, your legos, your baby dolls, and you like to pretend you are a waitress, I am the chef, and your sister is the customer. You have such an enthusiasm for learning. You are always wanting to "do your homework" (which means you either are coloring in a book, practicing writing, practicing reading, or doing a workbook). You stress out when I ask you to get ready for bed if you are not quite done. You have an artistic side to you, and love to draw, and you also love practicing your letters. You love to make new friends. You go any where and you usually walk out with a new friend. You are very personable, and are always wanting to help others.
What are your dislikes? You still do not like things in costume (such as Mickey, Snoopy at WOF, Santa, the Easter Bunny). You pretty much go screaming the other way.
What you Have learned: You are learning to count - and can make it up to 39 without help. After that, you just need assistance with remembering the big number (40, 50, 60, etc), but can count between those numbers). You can write most of the letters, but need a little assistance with the bigger letters. You are able to recognize all your letters, and can write them all out (and you are now working on your lowercase). You are able to start putting words together, and are learning your prereading skills. You are learning what sounds the letters make, and sometimes can figure out how to spell and/or read a word just by sounding out the letters. You can write your name, Brooklynn's name, mommy, daddy, nana, papa, mason, sawyer, mia, sugar, and some other words with assistance. You are learning to use your words when you are upset. You tell me "that makes me very angry", "that hurts my feelings", and occassionally I have heard you use the phrase "that breaks my heart". You are learning how to do a cartwheel, how to stand on your hands, how to hopscotch, and even how to ride a big girl bike (you are able to brake using both the pedals and the handlebar brakes.
You truly are amazing Izzy, and I am very excited to see how much you grow in this next year. This year will be a big one - you will be starting Kindergarten in the fall. You will graduate to a big girl dance class. You will be trying some new and exciting things this year. I am very excited that I get to see all that you are becoming, and that I get to say that I am your mom. I thoroughly enjoy every second I have with you (even those trying times when you ask me the same question 10 times, or don't take no - I have to say you are definitely persistant) :). I never thought it would be possible, but my love for you grows every day. I thank God every day for this journey I get to take with you.
Love you always and forever, love you mostest ostest, from here to the moon and back,
your Mommy
Tuesday, February 26, 2013
My Lab Results
So I received a phone call yesterday that my genetics testing came back negative!! So this means that Brooklynn just had a random mutation that started with her. Which means we do not have to worry that Izzy has this mutation (unless we have the worst luck ever and both of our children have the mutation that 1 in 200,000 people have). And this means that Sam and I can seriously start talking about whether we want to have more children. Izzy keeps asking for a baby brother (she says she would be okay with a sister), and we wanted to have one more (if not 2 more) children. So now we have to weigh the risk of me carrying another child (possibility of preterm labor again, me having to get weekly injections, possibly having weekly-monthly ultrasounds to follow my cervix, possibility of being on bedrest, etc). Hoping that those issues will be obsolete since we have had a lot longer time between children (I got pregnant with Brooklynn less than 2 years after having Izzy). So we will see what life throws at us next.
And now we can truly start processing our situation. We know now that Brooklynn will be the only one at this time who needs yearly exams and testing. Poor Brooklynn - but I know she is one tough cookie. She is so calm, relaxed, and easy going that I know she is going to be strong enough to handle all the crappy things she has to endure. Now I just have to be able to be strong enough on those times she might not feel like she can.
And now we can truly start processing our situation. We know now that Brooklynn will be the only one at this time who needs yearly exams and testing. Poor Brooklynn - but I know she is one tough cookie. She is so calm, relaxed, and easy going that I know she is going to be strong enough to handle all the crappy things she has to endure. Now I just have to be able to be strong enough on those times she might not feel like she can.
Monday, February 18, 2013
Newest research article
This is for my own reference. Mom I would not recommend you read this article.... It is a little intense and a lot of medical jargon but has new recommendations for screenings...
http://jmg.bmj.com/content/early/2013/01/17/jmedgenet-2012-101339.full
http://jmg.bmj.com/content/early/2013/01/17/jmedgenet-2012-101339.full
Wednesday, February 13, 2013
IEP Meeting and Orthotics
We picked up Brooklynn's "hotdog" inserts for her shoes today - and so far she is not even noticing a difference with them in her shoes! So hopefully this will help with her flat feet and her slight hypotonia in her lower legs.
Today we also had Brooklynn's very first IEP meeting. It lasted a lot longer than I expected. In the meeting was the Early Childhood Center Coordinator, the Special Educator Case Manager, the speech therapist, the Physical therapist, and me. We reviewed all of the concerns that were brought up in the evaluation meeting, and than discussed the Goals. These Goals were mostly put together by the case manager, based on our evaluation meeting. I am going to put them down here, just so that I have a record of these goals, but feel free to skip over them if you have no interest in them (they are after all the other journaling for today).
So after we reviewed the goals, we talked about the plan of action. Speech feels like she would benefit from 90 minutes of speech (which is up from 60 we are getting from FirstSteps!). The state allows a total of 720 minutes of special education services. So here is where we found out if she would be in the preschool or special education section of the school. They determined that due to her issues with socialization, interaction, speech, ability to transition, etc, they felt like she would benefit from being the SPECIAL EDUCATION classroom, 4 days a week, 3 hour days. So we will be pulling her out of Hilltop Preschool and putting her into Early Childhood Center as of 3/7 (the day after she turns 3 years of age).
This is where I tear up a little (not really but it's a hard one for me). I know this is what she needs. But I also know that she is doing AMAZING and making so much progress with her teacher Miss Cori and Miss Jennifer at Hilltop. But the problem is that she is doing so much better with THEM (such as allowing them to ease her out of transitions, work with them on art projects, etc), but she is still having a lot of problem with associating and interacting with her peers. She is definitely awkward around children (or just completely ignore them) unless they are her family that she sees all the time. You put her next to an adult, and she is the friendliest person in the world! She says hi to every adult that walks by.
We also found out that we will be allotted however many hours she needs during these school days for an individual to work with her (such as a para) during times when she has the most trouble (so if she needs 1:1 attention during recess, during circle time, etc, they will have someone available to help assist her). She will have occupational and physical therapist who will be consulted as needed, and if we need to initiate services with them, we can.
So we are going to get the full throttle assistance through the school district. Now I don't feel so bad paying all those Liberty taxes :) Because we will definitely be utilizating a lot of these services.
Goal 1. To increase adaptive behavior skills Brooklynn will distinguish betwen food and non-food items, clean up when asked, and correctly answer 'yes' or 'no' when asked if she needs to use the bathroom on 90% of opportunities for 3 data days.
a. Will tell if an item is "food" or 'not food' when presented with pictures or real life items on 9/10 opportunties for 3 data days
b. Will clean up (toys, snack, etc) when asked with one or less prompt on 90% of opportunities for 3 data days.
c. Will correctly answer 'yes' or 'no' when asked if she is wet or dirty on 90% of opportunities for 3 data days.
Goal 2: To increase social skills Brooklynn will initiate greetings/closings with familiar peers and adults, stated her name when asked, and appropriately communicate negative emotions on 90% of opportunities for 3 data days.
a. Initiate greetings/closings with familiar peers and adults with one or less prompt
b. State her name when asked
c. Appropriately communicate anger and sadness by using her words rather than screaming or tantruming
Goal 3: To increase play skills Brooklynn will demonstrate parallel play and request needed items in play on 4/5 opportunities for 3 data days.
Goal 4: To increase pre-academic skills, Brooklynn will match and sort by shape and color, identify objects by their use, and following directions related to learning activity with 90% accuracy for 3 data days.
a. Match by shape and color when requested
b. Sort items by shape and color
c. Identify 50 items by their use
Goal 5: Increase pre-academic skills Brooklynn will demonstrate attention to a learning task by looking towards the teacher or participating in the activity for 5 consecutive minutes for 3 data days.
a. Follow a direction related toa learning activity.
They will also add something about compliance
Goal 6: Speech and Language - Brooklynn will improve expressive language skills by using 3-4 word novel utterances in different word combination structures to express a variety of pragmatic functions, such as requesting, commenting, answering questions, gaining attention, negation in 8/10 opportunities in 3/4 data collectiond ays.
Brooklynn will improve receptive language skills by following a variety of 1-2 step directions containing spatial concepts; identify objects or pictures objects when given a description (function, feature, class); demonstrate comprehension of age level pronouns with 80% accuracy in 3/4 data collection days.
Brooklynn will increase overall intelligibility by producing age appropriate sounds at the elicit level with 80% intelligibility to an untrained listener.
a. Brooklynn will produce initial, final, and medical consonants at the elicited level.
Today we also had Brooklynn's very first IEP meeting. It lasted a lot longer than I expected. In the meeting was the Early Childhood Center Coordinator, the Special Educator Case Manager, the speech therapist, the Physical therapist, and me. We reviewed all of the concerns that were brought up in the evaluation meeting, and than discussed the Goals. These Goals were mostly put together by the case manager, based on our evaluation meeting. I am going to put them down here, just so that I have a record of these goals, but feel free to skip over them if you have no interest in them (they are after all the other journaling for today).
So after we reviewed the goals, we talked about the plan of action. Speech feels like she would benefit from 90 minutes of speech (which is up from 60 we are getting from FirstSteps!). The state allows a total of 720 minutes of special education services. So here is where we found out if she would be in the preschool or special education section of the school. They determined that due to her issues with socialization, interaction, speech, ability to transition, etc, they felt like she would benefit from being the SPECIAL EDUCATION classroom, 4 days a week, 3 hour days. So we will be pulling her out of Hilltop Preschool and putting her into Early Childhood Center as of 3/7 (the day after she turns 3 years of age).
This is where I tear up a little (not really but it's a hard one for me). I know this is what she needs. But I also know that she is doing AMAZING and making so much progress with her teacher Miss Cori and Miss Jennifer at Hilltop. But the problem is that she is doing so much better with THEM (such as allowing them to ease her out of transitions, work with them on art projects, etc), but she is still having a lot of problem with associating and interacting with her peers. She is definitely awkward around children (or just completely ignore them) unless they are her family that she sees all the time. You put her next to an adult, and she is the friendliest person in the world! She says hi to every adult that walks by.
We also found out that we will be allotted however many hours she needs during these school days for an individual to work with her (such as a para) during times when she has the most trouble (so if she needs 1:1 attention during recess, during circle time, etc, they will have someone available to help assist her). She will have occupational and physical therapist who will be consulted as needed, and if we need to initiate services with them, we can.
So we are going to get the full throttle assistance through the school district. Now I don't feel so bad paying all those Liberty taxes :) Because we will definitely be utilizating a lot of these services.
Goal 1. To increase adaptive behavior skills Brooklynn will distinguish betwen food and non-food items, clean up when asked, and correctly answer 'yes' or 'no' when asked if she needs to use the bathroom on 90% of opportunities for 3 data days.
a. Will tell if an item is "food" or 'not food' when presented with pictures or real life items on 9/10 opportunties for 3 data days
b. Will clean up (toys, snack, etc) when asked with one or less prompt on 90% of opportunities for 3 data days.
c. Will correctly answer 'yes' or 'no' when asked if she is wet or dirty on 90% of opportunities for 3 data days.
Goal 2: To increase social skills Brooklynn will initiate greetings/closings with familiar peers and adults, stated her name when asked, and appropriately communicate negative emotions on 90% of opportunities for 3 data days.
a. Initiate greetings/closings with familiar peers and adults with one or less prompt
b. State her name when asked
c. Appropriately communicate anger and sadness by using her words rather than screaming or tantruming
Goal 3: To increase play skills Brooklynn will demonstrate parallel play and request needed items in play on 4/5 opportunities for 3 data days.
Goal 4: To increase pre-academic skills, Brooklynn will match and sort by shape and color, identify objects by their use, and following directions related to learning activity with 90% accuracy for 3 data days.
a. Match by shape and color when requested
b. Sort items by shape and color
c. Identify 50 items by their use
Goal 5: Increase pre-academic skills Brooklynn will demonstrate attention to a learning task by looking towards the teacher or participating in the activity for 5 consecutive minutes for 3 data days.
a. Follow a direction related toa learning activity.
They will also add something about compliance
Goal 6: Speech and Language - Brooklynn will improve expressive language skills by using 3-4 word novel utterances in different word combination structures to express a variety of pragmatic functions, such as requesting, commenting, answering questions, gaining attention, negation in 8/10 opportunities in 3/4 data collectiond ays.
Brooklynn will improve receptive language skills by following a variety of 1-2 step directions containing spatial concepts; identify objects or pictures objects when given a description (function, feature, class); demonstrate comprehension of age level pronouns with 80% accuracy in 3/4 data collection days.
Brooklynn will increase overall intelligibility by producing age appropriate sounds at the elicit level with 80% intelligibility to an untrained listener.
a. Brooklynn will produce initial, final, and medical consonants at the elicited level.
Tuesday, February 5, 2013
Hurdle jumping
Tomorrow is a big day. We have Brooklynns neurosurgery appointment and brain MRI. This is to follow up her mild ventriculomegaly. But this time my nerves are a little more because now we have a new diagnosis. We have a diagnosis that goes along with tumors. And so that adds a whole new level of being scared. So tomorrow I am praying that growths are not seen on her scan. And I am curious to see hat Dr. H says about follow up now that we have an explanation for her enlarged head. I am hoping we will be cleared from this specialist but I am afraid.
So tomorrow we will be jumping over one more hurdle. The problem is that I feel like we are on a track with hurdles all the way around. So when we get over one there is another one right around the corner. I just pray that we will clear the hurdle. That there is not something that pops up that we are not expecting. But I know this is our life from here on out. I will never be able to relax with any appointment. I will be fearful with every test or every scan that something will pop up out of no where.
And we will get over this hurdle and we will have another coming next week with our IEP meeting. And than next month is her developmental appointment. So one hurdle (or day at a time) seems to be getting a little harder knowing that there seems to be no end of appointments, specialists, and testing. Deep breath.
So tomorrow we will be jumping over one more hurdle. The problem is that I feel like we are on a track with hurdles all the way around. So when we get over one there is another one right around the corner. I just pray that we will clear the hurdle. That there is not something that pops up that we are not expecting. But I know this is our life from here on out. I will never be able to relax with any appointment. I will be fearful with every test or every scan that something will pop up out of no where.
And we will get over this hurdle and we will have another coming next week with our IEP meeting. And than next month is her developmental appointment. So one hurdle (or day at a time) seems to be getting a little harder knowing that there seems to be no end of appointments, specialists, and testing. Deep breath.
Wednesday, January 30, 2013
Darn Internet....
So I have to vent. I hate the internet. Okay I really don't hate the internet - I love the internet. I love that there is up to date information that is always at your finger tips. That you can find out results of new research studies going on. That you can find others going through your same situation. But I hate the anxiety I feel when I find this new information. Because quite frankly - the new information that is being discovered about PTEN Hamartoma Tumor Syndrome is not any better information than before. It is actually worse. Every time I read a research article, the rate of breast cancer goes up (originally it was 25%, than 50%, and now it is up to 85% lifetime risk of breast cancer in your lifetime).
I hate that I find a blog about a mom going through the new diagnosis that she and her daughter (who is 9) and what it entails, both physically and mentally. And her thoughts of anger and sadness resonate with me. The fact that her daughter has to live with what this means, that as she gets older and asks more questions, it scares the mom that she has to report these. I know that every case is different. I know that some people deal with mild symptoms, but than there are others who struggle with the risk of cancer, and the diagnosis of cancer, every day. And i worry because my test results are not back yet. And if they come back, they are finding more people are being diagnosed with this mutation with breast cancer earlier (some women as early as 25 years). That there are women who chose bilateral masectomy and after they do this they find cancer in their breasts. I am fearful of if my test comes back positive, what this will mean. I try not to worry (I am told to not worry about things that I don't know the answers to, but I feel like this is going to be my life forever).
So now I am struggling again. I am anxious. I am nervous. And it is always when I am not with my kids or my husband. When I have time to think about the what ifs. And when I read these blogs and it feels like the person blogging is me. (Besides all the medical issues that her and her child are facing currently). And than I worry - my child is almost 3, her child is 9. We have a lot of time between now and than to start experiencing some of the same things. I pray we don't, but I am trying to prepare for if we do. And it is a constant struggle in my brain. So please bear with me if some days I just seem out of it. If some days, I look like I might start crying. Or if some days I just am plain grumpy. This is a lot harder than I thought it would be...
I hate that I find a blog about a mom going through the new diagnosis that she and her daughter (who is 9) and what it entails, both physically and mentally. And her thoughts of anger and sadness resonate with me. The fact that her daughter has to live with what this means, that as she gets older and asks more questions, it scares the mom that she has to report these. I know that every case is different. I know that some people deal with mild symptoms, but than there are others who struggle with the risk of cancer, and the diagnosis of cancer, every day. And i worry because my test results are not back yet. And if they come back, they are finding more people are being diagnosed with this mutation with breast cancer earlier (some women as early as 25 years). That there are women who chose bilateral masectomy and after they do this they find cancer in their breasts. I am fearful of if my test comes back positive, what this will mean. I try not to worry (I am told to not worry about things that I don't know the answers to, but I feel like this is going to be my life forever).
So now I am struggling again. I am anxious. I am nervous. And it is always when I am not with my kids or my husband. When I have time to think about the what ifs. And when I read these blogs and it feels like the person blogging is me. (Besides all the medical issues that her and her child are facing currently). And than I worry - my child is almost 3, her child is 9. We have a lot of time between now and than to start experiencing some of the same things. I pray we don't, but I am trying to prepare for if we do. And it is a constant struggle in my brain. So please bear with me if some days I just seem out of it. If some days, I look like I might start crying. Or if some days I just am plain grumpy. This is a lot harder than I thought it would be...
Thursday, January 24, 2013
The Day of Processing...
So yesterday was a day of getting information. Today is a day of processing. I dwell on things, I know I do and that is a weakness (sometimes a strength) of mine. I overanalyze, and usually after I over analyze, I come back to the ground and am able to function. But for the first couple days after I hear information, I usually am in my own world. So to those who are around during those days, I apologize. I go from being happy, to being sad, to being nervous, to being angry, to being okay. My mind races, my heart hurts, and than I am better once I lay eyes again on my kids and get the hug and kiss I have needed all day.
But today, right now, I am an absolute wreck. I am trying hard to process this information. I am trying really hard to be okay with this information. But I am also trying to accept everything for what it is. Now, don't get me wrong, I completely, 100% accept and love my child. No matter what I hear about her or what struggles we get, I never struggle with her. I struggle with the challenges she will be facing. With the kids who are just plain mean as she gets older. With the difficulties she is going to have to overcome. I struggle that I might not be strong enough for her. I may not be able to give her all she needs to be great in this world. I am devastated that I can not protect her.
I have to wonder, at what point do you say you have a child with "special needs"? At what point do you say it is okay to classify her as this, not to put her into a box, but to allow my mind and body the ability to give her the services that she might need. Is she a child with "special needs"? Is it okay for me to pick up the magazine that talks about just that - Raising a child with special needs? Am I allowed to do that? Or am I putting her into a bubble that she doesn't belong? I don't want anything she gets diagnoses with or evaluated for to define who she is. The developmental delays, trouble with socialization, autistic type behaviors, even the PTEN Hamartoma Tumor Syndrome is not WHO she is. It is the struggles she needs to overcome. It is a part of her, but it doesn't define her. She is full of energy, she is loving to her family, she is fun and adventerous, and full of animation. All in her own place, all in her own time. She can't be forced to do things, but when she wants to man she is so talented and so bright.
We are lucky we have the family we have. Such an amazing support system. We are so lucky that Izzy is such an amazing big sister. We are so lucky that Brooklynn is such an amazing little sister. They were born at the right time, in the right order. They complete our lives, they make things amazing.
But some days, the struggles we have are just a little overwhelming. The doctor's appointments, the diagnosis, the testing, the feelings, are just a little too much to handle. Some days, I wish I could just go to bed and just cuddle with my kids, or even just roll up in a ball. Some days, I feel like that is all that I need. But I can't. I must stay strong. I must not be selfish. And I have to realize all the positives we have in our lives. I mean, it is hard to struggle with these things when what you see of Brooklynn is so amazing, and she is so healthy. I am trying really hard to dismiss the "What ifs" that come into my head.
Some days I wonder if maybe I am just too weak. So many people deal with their own struggles and sometimes I wonder if I am just so absorbed in ours, but that they are really nothing compared to most people. We are dealing with some minor things, but eventually, when you have a lot of minor things, it gets a little overwhelming. And today, I am accepting that fact. Tomorrow, or even this afternoon, I hope I am stronger than I am right now.
But today, right now, I am an absolute wreck. I am trying hard to process this information. I am trying really hard to be okay with this information. But I am also trying to accept everything for what it is. Now, don't get me wrong, I completely, 100% accept and love my child. No matter what I hear about her or what struggles we get, I never struggle with her. I struggle with the challenges she will be facing. With the kids who are just plain mean as she gets older. With the difficulties she is going to have to overcome. I struggle that I might not be strong enough for her. I may not be able to give her all she needs to be great in this world. I am devastated that I can not protect her.
I have to wonder, at what point do you say you have a child with "special needs"? At what point do you say it is okay to classify her as this, not to put her into a box, but to allow my mind and body the ability to give her the services that she might need. Is she a child with "special needs"? Is it okay for me to pick up the magazine that talks about just that - Raising a child with special needs? Am I allowed to do that? Or am I putting her into a bubble that she doesn't belong? I don't want anything she gets diagnoses with or evaluated for to define who she is. The developmental delays, trouble with socialization, autistic type behaviors, even the PTEN Hamartoma Tumor Syndrome is not WHO she is. It is the struggles she needs to overcome. It is a part of her, but it doesn't define her. She is full of energy, she is loving to her family, she is fun and adventerous, and full of animation. All in her own place, all in her own time. She can't be forced to do things, but when she wants to man she is so talented and so bright.
We are lucky we have the family we have. Such an amazing support system. We are so lucky that Izzy is such an amazing big sister. We are so lucky that Brooklynn is such an amazing little sister. They were born at the right time, in the right order. They complete our lives, they make things amazing.
But some days, the struggles we have are just a little overwhelming. The doctor's appointments, the diagnosis, the testing, the feelings, are just a little too much to handle. Some days, I wish I could just go to bed and just cuddle with my kids, or even just roll up in a ball. Some days, I feel like that is all that I need. But I can't. I must stay strong. I must not be selfish. And I have to realize all the positives we have in our lives. I mean, it is hard to struggle with these things when what you see of Brooklynn is so amazing, and she is so healthy. I am trying really hard to dismiss the "What ifs" that come into my head.
Some days I wonder if maybe I am just too weak. So many people deal with their own struggles and sometimes I wonder if I am just so absorbed in ours, but that they are really nothing compared to most people. We are dealing with some minor things, but eventually, when you have a lot of minor things, it gets a little overwhelming. And today, I am accepting that fact. Tomorrow, or even this afternoon, I hope I am stronger than I am right now.
Wednesday, January 23, 2013
Early Childhood Center Evaluation
Today we had our evaluation results from the public schools. It all was overwhelming, as always. It was all pretty much expected. But I must say it is pretty difficult when you see numbers placed next to your child's name to classify your child under certain levels. If you have been following along, Brooklynn will have to transition out of FirstSteps and into the school district when she turns 3. So we have been evaluated (and when I mean evaluated she had 13 total evaluations done). And today we were given all the results. Sam was able to take off for this meeting so he was there with me as well. Most of these paragraphs goes into depth about each evaluation, for an overall picture, skip down to the bottom if you don't feel like reading everything
So they look at her scores and see how many deviations below the average she is to see if she qualifies for services. If she is -1.5 for 2, or -2 for one area, she qualifies for services. Anything below 78 was -1.5, and I think anything below 70 was -2.0. This kind of is how they evaluate to see what she would need.
Good news is that her vision and hearing are good - which we knew due to having those evaluated prior. They evaluated her Adaptive Behavior, using the Battelle Developmental Inventory. They evaluate 5 domains. Adaptive domain measures her self-care (she scored in the 1st percentile) and personal responsibility (she scored in the 25th percentile). Between these two, her developmental quotient was 80, so while she was slightly below average, this does not qualify her in of itself.
Her Academic Performance is more of cognitive. They use the same Battelle Developmental Inventory for this. Her attention and memory (scored in 1st percentile) was at an age equivelant of a 1 year 3 month old, her reasoning and academic (scored in the 2nd percentile) were <2 years, and her perception and concepts (scored in 1st percentile) was ranged with a 1 year 4 month old. This placed her at a developmental quotient of 64 (-2 deviations below the normal). She demonstrates a short attention span and lack of impulse control which made it difficult to test some things. She has a hard time with answering questions or following verbal directions, and does not really look towards the person speaking to her.
We also did her social and emotional status. They did multiple evaluations to determine her status on this, but the first one was the Battelle Developmental Inventory. She did okay with the adult interaction (scored in 5th percentile), but she has trouble with peer interaction (scored in <1st percentile). They also look at her self-concept and social role (scored in 1st percentile). So all of these three combined, she scored a 74 (4th percentile) (so -1.5 deviation). They also looked at an Autism rating, which I will talk about in a bit.
Communication status, she was evaluated for her speech. Amazingly, this was one of her highest scores and this is one of the therapies we get through Firststeps. Her total language score (or the words that she understands and speaks) was 82 - so average. (12th percentile). Her articulation score was a little lower (not 100% scored because she was not cooperating). They found she was hard to understand, and therefore, could benefit from speech therapy, but that alone would not qualify her for services. They scored her as a total of 52, and anything greater than 61 is normal for her age.
Physical and occupational therapy evaluated her to see if she has problems. In her motor domain on the Battelle Developmental Inventory, she had a developmental quotient of 87, so was percentile ranked of 19th. This was her highest score. Her Sensory Processing Measure evaluation was done by both me and her preschool teacher. She ranked much better at home than at school. She was typical in social participation, vision, and hearing, had some problems in touch, body awareness, planning and ideas, and definite dysfunction in balance and motion. At school, she had some problems with vision and body awareness, but definite dysfunction in social participation, hearing, touch, balance and motion, and planning and ideas. Her total sensory score was a 76 in the school form (this one had a different rank - 80 was the highest school - the closer you get to 80, the worse off you are - so she is pretty close to have definite problems in this are for school).
They observed her in school, and saw a lot of the concerns that we have been seeing. She had trouble participating in circle time - and had to be reminded many times to participate in the group. She finds comfort with the teachers by wanting to sit in their laps or hold their hands, but has a hard time interacting with her peers. She becomes preoccupied, and has trouble moving on often. She has physical conflicts with her peers when she wants something they have (nothing extreme, but she does not handle these conflicts well).
So now back to the autism rating. They verbalized they can not diagnose autism - that has to be done by a medical professional. But they can do evaluations and see if she has autistic type behaviors. This is the point I cried, because they rank it based on whats called a T-Score. Any score of 59 or less indicates small to average number of concerns. 60-64 indicated slightly elevated concerns in regard to ASD (Autism Spectrum) type behavior. 65-69 are considered elevated range, and anything 70 or above are very elevated, and often strongly associated with a clinical diagnosis of autism spectrum disorder. This is ranked based on an evaluation her dad and I filled out. I was a little shocked to see the results. We have always suspected she might have some autistic type behaviors. But I never thought she would rank high. Her total score was 65 (elevated). This means she has many behavioral characteristics that are similar to behaviors of children diagnosed with ASD. DSM-IV-TR scale was very elevated at 71 - this demonstrates symptoms that are directly related to the diagnostic criteria medically for ASD. She had slightly elevated scores for social/communication and unusual behaviors.
Treatment scales were also ranked. She is elevated in peer socialization, stereotypy (so typical movements/behaviors seen in ASD), and behavioral rigidity (has a tough time changing her routine). She was average in adult socialization, and attention/self-regulation. She was slightly elevated in social/emotional reciprocity, atypical language, and sensory sensitivity. So overall she is consistent with ASD. So now we have more to back us up to get her evaluated from a medical standpoint to see if she needs to have an autistic diagnosis.
So all in all, she qualifies to participate in Early Childhood Center. We will meet February 13th to do her officiall IEP - which is an Individualized Education Plan. We will find out exactly what services she will get. I have a feeling between ranking -2 deviations in 2 things, -1.5 in at least 1 thing, and the autism spectrum rating, we will probably get into the special education programming. There is a possibility we might just do the preschool program, but we know we will at least get some sort of therapy. I am anxious. I am scared. I am saddened that we have heard "Autism" along with my child. But I am glad we will be getting services when she turns 3. I am glad we are validated in our feelings, that there are others who are seeing behaviors that can be concerning. And I am glad that we have found where we need to be. So now on to the next road in this adventure. I am not sure how to feel, but I know she is still the same Brooklynn, no matter what results we heard today. And I love every bit of her.
So they look at her scores and see how many deviations below the average she is to see if she qualifies for services. If she is -1.5 for 2, or -2 for one area, she qualifies for services. Anything below 78 was -1.5, and I think anything below 70 was -2.0. This kind of is how they evaluate to see what she would need.
Good news is that her vision and hearing are good - which we knew due to having those evaluated prior. They evaluated her Adaptive Behavior, using the Battelle Developmental Inventory. They evaluate 5 domains. Adaptive domain measures her self-care (she scored in the 1st percentile) and personal responsibility (she scored in the 25th percentile). Between these two, her developmental quotient was 80, so while she was slightly below average, this does not qualify her in of itself.
Her Academic Performance is more of cognitive. They use the same Battelle Developmental Inventory for this. Her attention and memory (scored in 1st percentile) was at an age equivelant of a 1 year 3 month old, her reasoning and academic (scored in the 2nd percentile) were <2 years, and her perception and concepts (scored in 1st percentile) was ranged with a 1 year 4 month old. This placed her at a developmental quotient of 64 (-2 deviations below the normal). She demonstrates a short attention span and lack of impulse control which made it difficult to test some things. She has a hard time with answering questions or following verbal directions, and does not really look towards the person speaking to her.
We also did her social and emotional status. They did multiple evaluations to determine her status on this, but the first one was the Battelle Developmental Inventory. She did okay with the adult interaction (scored in 5th percentile), but she has trouble with peer interaction (scored in <1st percentile). They also look at her self-concept and social role (scored in 1st percentile). So all of these three combined, she scored a 74 (4th percentile) (so -1.5 deviation). They also looked at an Autism rating, which I will talk about in a bit.
Communication status, she was evaluated for her speech. Amazingly, this was one of her highest scores and this is one of the therapies we get through Firststeps. Her total language score (or the words that she understands and speaks) was 82 - so average. (12th percentile). Her articulation score was a little lower (not 100% scored because she was not cooperating). They found she was hard to understand, and therefore, could benefit from speech therapy, but that alone would not qualify her for services. They scored her as a total of 52, and anything greater than 61 is normal for her age.
Physical and occupational therapy evaluated her to see if she has problems. In her motor domain on the Battelle Developmental Inventory, she had a developmental quotient of 87, so was percentile ranked of 19th. This was her highest score. Her Sensory Processing Measure evaluation was done by both me and her preschool teacher. She ranked much better at home than at school. She was typical in social participation, vision, and hearing, had some problems in touch, body awareness, planning and ideas, and definite dysfunction in balance and motion. At school, she had some problems with vision and body awareness, but definite dysfunction in social participation, hearing, touch, balance and motion, and planning and ideas. Her total sensory score was a 76 in the school form (this one had a different rank - 80 was the highest school - the closer you get to 80, the worse off you are - so she is pretty close to have definite problems in this are for school).
They observed her in school, and saw a lot of the concerns that we have been seeing. She had trouble participating in circle time - and had to be reminded many times to participate in the group. She finds comfort with the teachers by wanting to sit in their laps or hold their hands, but has a hard time interacting with her peers. She becomes preoccupied, and has trouble moving on often. She has physical conflicts with her peers when she wants something they have (nothing extreme, but she does not handle these conflicts well).
So now back to the autism rating. They verbalized they can not diagnose autism - that has to be done by a medical professional. But they can do evaluations and see if she has autistic type behaviors. This is the point I cried, because they rank it based on whats called a T-Score. Any score of 59 or less indicates small to average number of concerns. 60-64 indicated slightly elevated concerns in regard to ASD (Autism Spectrum) type behavior. 65-69 are considered elevated range, and anything 70 or above are very elevated, and often strongly associated with a clinical diagnosis of autism spectrum disorder. This is ranked based on an evaluation her dad and I filled out. I was a little shocked to see the results. We have always suspected she might have some autistic type behaviors. But I never thought she would rank high. Her total score was 65 (elevated). This means she has many behavioral characteristics that are similar to behaviors of children diagnosed with ASD. DSM-IV-TR scale was very elevated at 71 - this demonstrates symptoms that are directly related to the diagnostic criteria medically for ASD. She had slightly elevated scores for social/communication and unusual behaviors.
Treatment scales were also ranked. She is elevated in peer socialization, stereotypy (so typical movements/behaviors seen in ASD), and behavioral rigidity (has a tough time changing her routine). She was average in adult socialization, and attention/self-regulation. She was slightly elevated in social/emotional reciprocity, atypical language, and sensory sensitivity. So overall she is consistent with ASD. So now we have more to back us up to get her evaluated from a medical standpoint to see if she needs to have an autistic diagnosis.
So all in all, she qualifies to participate in Early Childhood Center. We will meet February 13th to do her officiall IEP - which is an Individualized Education Plan. We will find out exactly what services she will get. I have a feeling between ranking -2 deviations in 2 things, -1.5 in at least 1 thing, and the autism spectrum rating, we will probably get into the special education programming. There is a possibility we might just do the preschool program, but we know we will at least get some sort of therapy. I am anxious. I am scared. I am saddened that we have heard "Autism" along with my child. But I am glad we will be getting services when she turns 3. I am glad we are validated in our feelings, that there are others who are seeing behaviors that can be concerning. And I am glad that we have found where we need to be. So now on to the next road in this adventure. I am not sure how to feel, but I know she is still the same Brooklynn, no matter what results we heard today. And I love every bit of her.
Wednesday, January 9, 2013
Sam's Results!
Finally, after 2 months of waiting, we received a phone call with Sam's test results. And they are...drum roll please...NEGATIVE!!!! This is wonderful news! We don't have to worry any more about him getting cancer than any other person out there. WE can rest easy knowing that at least for now, our fears have been laid to rest for him.
Next step? I get my labs drawn tomorrow. And the waiting game starts. And I have to say I have some thoughts in my head and some fears (I am sure the same that were going through Sam's head when we tested him). What happens if mine comes back positive? That means i have to have my breasts, uterus, and thyroid checked within the next year or so. My cancer risk is 10-80%. But I am not going to think about that now (or try REALLY hard not to). I will deal with it when the news comes. 8 weeks from now. Argh.
But if my test comes back negative - we can talk about having another baby! We will know that there is so much less of a chance that we will be passing something on to our kids. We will know that it is not a 50% chance of passing something on. And we will know that Izzy has no chance of having this PTEN mutation! And my heart will feel so much better. I will still be struggling with the daily worries about Brooklynn, but I can just focus on what we need to on 1 person. It will be wonderful. If I send positive thoughts into the universe, we will get some positive results right? I guess I can think that for the next 8 weeks to help get me through.
And for 8 weeks, we have something to celebrate. :)
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