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. :)

Year of 2012 in Review

Wow, I just looked back on my blog for this year. I am so grateful I started blogging. I never knew how important it would be for me to keep track of all my thoughts, worries, and the girls' medical history. It reminds me of all we have been through. It reminds me of how strong we have become. If you asked me in the beginning of 2012 what I think this year would be like, I would even have been able to start to explain what we have encountered. We saw 3 new specialists, we went to 7 specialists for Brooklynn alone. We went from exploring what might be going on, to having an answer. Life has thrown us a curve ball, and even through all the terrible things, if nothing else, it definitely brought my family closer together. This year I learned a few things... 1. Resilience, patience, and taking it "one day at a time" - these are all concepts that I have learned. I am not good at this by any means, but I am getting better. I have learned that not everything is instanteous. That there are things that are completely out of my control, and I just have to sit back and let the world guide me as it needs to. But I learned that I would do anything for my kids. 2. Being deligent and hard headed when it matters. I knew there was more we needed to do. I knew that I didn't just have to sit back and let my insurance company tell me no we won't cover it. I continued to push ahead and found other options for us. 3. Accepting help - this to me is accepting help from providers. This is me accepting the fact that the girls' dad and I don't have all the answers, and at times we need to go to the professionals (such as Firsteps) to give the girls the things they need to foster and grow. 4. I have learned how completely strong my kids are! They are only 2 and 4 and yet they are stronger than anybody I know. They can roll with the punches, they are always loving, and they are always reminding me that it doesn't matter what life throws at you, but if you have people who love you, you will get through it as best you can. 5. You can do everything right (maybe a few things wrong), but some things no matter how hard you try you can't change. We can't change that we got the diagnosis of PTEN Hamartoma Tumor Syndrome. We can only work with what we have and make this life the best we can. 6. Family truly is the most important thing. I will sacrifice anything for my family. I am the momma bear when it comes to my kids. I will protect them as best I can. And if they do get hurt, or life throws them something terrible, I will be there to pick them up. We will get through whatever it is we need to get through as long as we stick together. So 2012, even though there were times you completely knocked me on my ass, I still am grateful for the wonderful gifts I have been given. I have an amazing family, not only my tiny family of 4, but all those other amazing people I am proud to say I am related to (whether it's by blood or marriage, either way I am lucky). My hopes for 2013? That we all remain healthy. That after 3 months, we have an answer for Sam's test, and either we can get him tested and cleared of all possibilities of cancer, or we can be excited because it's negative. I hope we continue to grow stronger. That we can finally get an answer as to if we will have more kids or not. I am hopeful that all those around me stay happy and healthy. I am hopeful that no matter what, we can continue to grow strong and continue to expand our love. And I am SOO excited to see how the girls' grow and change. To see their personalities develop even more. To see how strong they become, and to see the progress when I look back on my blog and realize just how far we have come.

Update from the last month..

So our household is still adjusting to the news of the PTEN mutation. We are still awaiting Sam's tests results. So we are still in limbo of how to feel completely. We are starting our evaluation for the school district to see if we can get therapies or get admitted into their early childhood preschool. It is very overwhelming. We have to have many evaluations. Yesterday started our evaluations - we had the cognitive, autism therapist, and speech who observed her. The questions they asked were overwhelming. They saw Brooklynn in her full force - they were able to witness her inability to transition, her complete and utter focus on what she wants and inability to move on if she doesn't want to, her repetitive behavior and speech, and her sometimes "aggressive behavior" of hitting and throwing some silent fits. It was hard to see it. It was hard to hear the autism therapist ask if had ever heard the term autism with her (she was researching what her syndrome was - saw autism is 25% occurence, and even stated she saw behaviors that could possibly be concerning). It was disheartening, it was nerve racking. And next week, we go to the speech therapist, occupational therapist, and physical therapist (possibly). I also have to speak with the school psychologist to see about her social/adaptive behaviors. I won't get the official results until January 23rd. I am used to waiting, but I am so tired of waiting! I know that she needs therapies. It is just scary that I might encounter something I don't want to or that i haven't heard before with her. I asked her teacher to fill out a questionaire, and it was eye opening to really see how little she is interacting with her peers. It makes me a nervous wreck. I see her so fun loving and excited and play well with her family. But I know she has problems interacting with those her age. I just hope we can get information that helps us to improve all she needs improved, and foster her development as best we can. I am just struggling with being okay with all this. I am struggling with staying strong. I struggle with not letting it eat away at me day to day. I think time is making things better, but it is always on my mind. I am letting it consume me and I know I should not do that. Maybe after we get all these evaluations out of the way, and we no longer have to wait for things, I will finally be able to move on. But we still have so much up in the air. It sucks. Izzy had a cardiology appointment today since her PCP heard a murmur - she felt it was innocent but wanted to check with everything we have been through. We went and she passed with flying colors - her heart was perfectly normal! So one thing marked off my worry list. We are getting ready fro christmas and very excited. Life is so amazing, even with everything, that I try to take all the positive and concentrate on that. I keep pushing the negative back...but sometimes it just creeps its way to the front. One day it will go away completely...I hope :).

Random blogging of Thoughts...

So blog it's me again. I am going to be babbling on...again. Things have been hit or miss lately with my mood. I go from being a-okay with everything, than I get hit with a wave of anxiety/depression/fear. I don't know if this is normal or totally uncalled for. I don't know if I am thinking too much about this (probably...I always do). It would be so much easier if I had people to talk to about this new diagnosis. Nobody knows what this means. Nobody can give me any sort of prediction because the data is ever changing. There are no families I know that have dealt with this diagnosis. The only thing I can do is read, and read, and read some more about different research articles that contradict each other. About different blog sites that freak me out, or offer me solace knowing I am not alone. There is a message board that I can participate in - but they have been down due to Hurricane Sandy. I have been waiting since we got the diagnosis to be able to log in, but I have been awaiting approval. I asked to participate in the Parent to Parent Support program through CMH, but there are no registered parents with this same diagnosis, so they have to do a national search. My pediatrician has never heard of it - and granted she is pretty remarkable and will catch anything I should be concerned about. She told me when I informed her that if we ever need to make any type of referral she will sign it no problem. She knows what FirstSteps has found (her upper torso weakness, her language delays, some social concerns), and she is all for doing what we need to. But I feel like a lot of it is going to be dependant on our eyes and ears, our knowledge, to guide her cares and know when to be concerned. And that is the scariest feeling in the world. What if I miss an article and it shows that there is something that pops up, and I don't catch it? I know she will be looked at by many medical professionals, and I shouldn't be that worried, but I am still fearful. We have all the right programs instituted for her - she has been in the therapies she needs, and we are working on her developmental evaluation referral. We have many specialists already involved from prior to this diagnosis. I am debating trying to get in contact with Cleveland Clinic - I think I will wait and see if Sam get's a positive test result. If he does, we might look into a family trip out that way just so we get all the knowledgeable people giving us as much information as we need. And to top it off, we now have to go to a cardiologist for Izzy - the doctor heard a murmur at her check up. She thinks it is an innocent murmur, but didn't want to miss something due to all the other things going on. So now I have her to worry about. It wouldn't be so bad if I had time to process. But I feel okay about everything when I am with my kids, until I go back to work and am immersed in families who have all these terrible things happening to their children. And I can't help but personalize. I wish I could talk to others and they would understand my fears, anxieties, or thoughts. I wish I could stop feeling like these thoughts are me being crazy. I wish I knew if the worries were warranted, if others with this diagnosis were feeling the same thing. Or is it like most everything else with me - I am over thinking.

Transition Meeting

Today we had a transition meeting from Firststeps to Early Childhood Education Center at the school district. Since Brooklynn turns 3 in March, Firststeps can not provide services after that time. So I met with the school district to learn more about it. Boy, am I overwhelmed! It was very emotion sitting in the meeting, and honestly I was not expecting that at all. The thing that hit me was the terminology "special education". I knew Brooklynn has been needing therapies to improve her speech and her ability to play and transition. I even knew that were some quirky behaviors she has that may or may not mean anything. And than you add those things to her new diagnosis, and my mind and heart just felt so many different things. This meeting was intended to just get information. The speech therapist, the special therapist (aka "behavior/play" therapist), the FirstSteps coordinator, and the Early Childhood Center Coordinator were sitting at this table. We discussed where Brooklynn is now. We discussed her improvements, and things we still are continuing to work on. We discussed her diagnosis, and what it could mean developmentally and intellectually. We discussed how her sessions have been going. And I started processing some things I have not. Such as her hypotonia issues in her upper torso, and how these are truly starting to effect her development. She is having a hard to grasping objects to be able to things with them (such as a fork, spoon, crayon). We are working on her strength, and her ability to interact with others. It was decided I will meet again in the end of November. I will give permission to start the testing process at this time. The testing includes evaluating her eligibility based on her development in physical, cognitive, communication, social/emotional, or adaptive. We will also fill out an Autism Spectrum Disorder questionnaire. I am nervous. I am scared. I am half thinking that all of these will be fine. I am half expecting to get blindsided by something that I was not expecting. She has to prove that she falls 1.5 standard deviations in 2 or more areas of development, or 2 standard deviations below one area of development to be accepted into this program. There are different levels. There is just appointments with therapists (speech, social, etc). This usually is if a kid only needs an hour or up to 3 hours of services if we choose. There is also the preschool program, which is where they can either integrate her therapies into her classroom, or pull her out of the classroom to accomplish her therapies. There is also the special education education, which would be if they needed more than 3 hours of therapy sessions, and are having trouble mainstreaming with the other children. Right now, I don't know which part we will qualify for, if we qualify at all. I don't know what their assessments are going to bring up. I don't know where we will stand and what services will need to be provided. If she gets accepted into the preschool, it is usually 4 half days a week. If she shows that she will regress during the summer months, there is the potential to have summer time sessions as well. I am not sure how to feel. I look at Brooklynn, and she is such a loving and fun little girl. She is super intelligent, and can really do some things I am in awe of. I know that i shouldn't think one way or another. I felt like after the meeting, it seemed that we will probably be accepted for one service or another. I am anxious to get this process started, but I know it really doesn't matter how long this all takes as we won't even start any of this until she turns 3. First steps has been amazing, so I am going to be sad to transition away from them. They have helped Brooklynn in so many ways. They have helped me change as a parent so that I can meet her needs. The Early Childhood Center looks amazing. The services they could provide are astounding. The thought that she would even need these services, a little nerve racking. I never thought I would raise a child who had special needs. There is absolutely nothing wrong with that - I will take that on full force and I am willing to do whatever I need to provide her the services she may need to fully develop and grow into the wonderful amazing person I know she is and will continue to become. I just don't want any of those special needs she might have to define her. I don't want her to ever question where she stands with others. I don't ever want her to feel like she is incapable of doing ANYTHING! I want to foster her and let her know that she can do WHATEVER it is she wants to do. I just need to accept that I might need some more people to help her get there than just her father and I. I am very glad Brooklynn has her older sister. Those two are wonderful together. They love each other completely. They play together so well. They help the other one, they accept the other one no questions asked. Izzy helps her little sister in any way she can. Brooklynn helps her older sister learn the meaning of sharing and patience. It is truly remarkable to see them interact with each other. Izzy is growing into such a wonderful little girl. She is always considerate of others. She wants to include everybody, and her sensitivity is so stellar at such a young age. The girls truly are best friends, and I love every minute that they are together. I can't help but smile and laugh and enjoy life when they are together. Even when they fight, it's because of something silly, and the fight only lasts about 2 seconds. I am so excited to see them continue to grow as sisters, and best friends!

Genetics Appointment

Today we had our appointment with genetics. We talked mostly with the genetics counselor. Let me just say, it was a nice meeting, even if the information we received was a little hard to take in. The genetics counselor validated our feelings. She said it's a diagnosis most people don't understand or know about. It is a long explanation for others to understand. There is an initial reaction to not understand where we are coming from with our fears and thoughts because she is healthy right now. It is not like other diagnosis that others understand. If we had the diagnosis of Down Syndrome, people would know what that means. I cried, she teared up, I stopped crying, I teared up again. You know, normal reaction for me. She really didn't tell us anything different than what we knew from the research. They have seen others with this PTEN gene mutation. They gave us an official diagnosis - PTEN Hamartoma Tumor Syndrome, or we can just say PTEN related disorder. (the second sounds a little less scary). She stated that there is definitely an overlap between BRRS and Cowden Syndrome now, so the symptoms that go with each of these can both be seen with Brooklynn. Cancer is our biggest long term risk. The numbers are always changing, so she stated to not trust the percentages. They can go from 25% to 80% for chance of getting breast cancer depending on the research article. They are still learning about this gene mutation. We have to monitor her thyroid every year. We have our first thyroid ultrasound on Monday. We will have to monitor for GI polyp symptoms. We will have to go yearly to the dermatologist. There are many types of growths, tumors, and malignant cancers that can be seen in this syndrome. Brooklynn could have many symptoms, she could have no symptoms, there is no predicting the severity. There is a clinic in Cleveland that deals with PTEN related disorders. They have a Dr. who goes there that is highly recognized for her work in PTEN related disorders. The genetics counselor will contact that clinic and see if it will benefit us to get in touch with them. She stated she would put us in touch with other families that are dealing with the same thing. There is also a doctor at KU who does a lot of research for adults with PTEN and cancer. We might be able to speak with her at some point. Sam had his labs drawn today - it may take any where from 2 weeks to 6 weeks. Those results will reflect the next step. If it is positive, he will have to have his thyroid checked. At 35 he will have to start some other screenings. If his is negative, I will have to have my labs drawn. If mine is positive, I will have to do thyroid, breast, and endometrial cancer screenings by the time I am 30. If either of us is positive, we have to decide if we want to test Izzy (she has no symptoms at this point, so we feel that right now our decision is no - but if she develops any symptoms we would test her - we feel like she should be able to chose for herself if she wants to know as she gets older since she has no symptoms of anything being wrong). Brooklynn will have to be told at some point in her life about this. The counselor talked about how some people deal with this. She said some people tell them little by little, some tell them all at once. Some kids want to speak with a medical professional, some just want to talk to their parents. We need to tell her prior to her being child bearing age. She has a 50% chance her kids will get the mutation. They could either have mild symptoms, or much more severe. She will have to talk to her significant other that she is at increased risk for cancer. That she might have to have her breasts removed at a young age. She might get breast, skin, endometrial, brain, renal, or GI cancer. And at any age it can show up. This will possibly hinder her ability to get life insurance at a decent premium. This diagnosis will effect her whole life, and even before she knows it. Right now, our biggest concerns to pay attention to are her development. Foster her learning and development as much as possible. The positive is now we should get services we need easier. We will be vigilant about screenings. She will possibly get a developmental screen done to see if there are concerns. This goes along with learning disabilities and developmental delays. Sam was my rock. He was so strong through all this. He took it wonderfully. He supported me in all my million questions. He pretty much summed it up "We can't change this. It is what it is." I still feel like I am in a fog. I don't know necessarily how to handle this. I don't know how to process this, but I am working on that.

Searching and hoping...Or searching for hope...

So it has been over a week since we got that phone call that changed our outlook on life. And I have had time almost every day to do a little bit of research. I have tried really hard to not google this...but it is very hard to not google PTEN to discover what others are feeling and going through, and what the most recent research is out there. I feel like I am going through the stages of grief. That probably sounds ridiculously stupid to those out there who have never received any type of diagnosis for you or your child. Or you might even find it stupid if you have received a diagnosis. Don't get me wrong, I am SOO happy that right now, both my children are healthy, and that my husband is healthy. But I have so many fears going through my head, and I am trying to keep them completely hidden. This blog is going to be a reflection for me - a way to get thoughts off my mind. Don't feel like you have to read. Don't judge me by anything you may read. If it offends you or upsets you, stop reading. If you don't know how to handle what I am saying, sorry. But I need this blog to reflect and sort through things. That is how I am going to overcome. That is how we, as a family, are going to grow stronger. I need to be strong through this. Stages of Grief: 1. Shock and Disbelief - I guess I was only in this for a short time frame, like probably 5 minutes. It is so disheartening, though, to know that I have not been in this stage. I can't really say I was ever shocked - I always knew there was something going on. And specialist after specialist couldn't figure out what. And finally, one doctor realized to draw a lab that changed our lives. 2. Pain and Guilt - The pain is there. The pain has been there from the time she has been born. The guilt I have felt thinking that there was something not right. The guilt that I felt when I had relief that we finally had answers. The Pain I feel every day knowing that any day our lives could completely change. That any lump, sickness, or abnormal lab could lead us in a whirlwind because that would mean this new diagnosis has reared its ugly head. And not only for Brooklynn, but also that there is a possibility that Sam or I could be carrying this, and that there might even be the potential that Izzy could have this. 3. Anger and bargainining - I have experienced anger. We don't understand how such a beautiful little girl could have to go through this. Granted, she might not end up getting anything. But I am angry that she has to go through tests her whole entire life. I am angry that I couldn't protect her. I am angry because our lives have changed. I haven't been in the bargaining part of this though - there is no point. You can't bargain your way out of this. 4. Depression, reflection, loneliness - depression yes. reflection, way too much. loneliness, sometimes. I have so many people who have supported us through this. But I feel lonely in my thoughts. I feel lonely because I don't know how much to talk about or to worry about this. I feel lonely because everybody tells me at least we know and can start screening, but I have such an overwhelming sense of fear that I can't away from that easily. I feel depressed because I am allowing myself to get depressed. 5. The upward turn - don't know if I have hit this yet. I get it, and than I go downhill with a day at work. With tears that another mother cries. With another coworker who has found out they have cancer, or tumor, or illness they can't get away from. I am grateful for every day we have that we don't have any diagnosis of "cancer". 6. Reconstruction and working through - this is a day to battle. This is an article by article battle. This is going to be a completely new way of looking at life. Preventative living is what we have to do now. We have to reconstruct the way we live to try to prevent the possibility of the tumors of growing. We have to live healthy. We have to live strong. 7. Acceptance and Hope - I am hopeful. Don't get me wrong. I am hopeful that we never have any terrible diagnosis. I am hopeful that Brooklynn continues to grow and develop. I am hopeful that Sam does not get the positive test result. I am hopeful that I don't get the positive test result. I am hopeful that if either of us do, that we don't have any signs of cancer. I am hopeful if we do, that Izzy doesn't have this. I am hopeful that if we don't, we can figure out if another baby is in our future. I am hopeful that if we do, we are accepting of the fact that the 2 girls are going to continue to be our only world. This might seem silly to some that I am thinking about other children at a time like this, but we always imagined a large family, and that dream in itself is no longer possible (at least right now). Go back to stage 1, 2, 3, and 4 for this realization. I am accepting that we have this answer, so now we have to figure out what this means. But than I go right back to the other stages. Seems silly to be in the stages of grief when my 2 beautiful girls are running around being crazy and laughing and enjoying life. I am really trying to enjoy every minute that we are all healthy. I feel crazy some days. I feel like my thoughts are all over the place. I never feel 100% in the moment. I hope tomorrow when we go to genetics we have some more answers, or at least better answers. I hope every day I get a little closer to being in stage 7, fully and completely. I don't know if that will ever happen, but I am hopeful.