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.

Article

So when you research anything on google, there is a wide range of what you might find. So as I have been doing research, I am finding so many articles that are very informative. But I wanted to know from genetics clinic standpoint what is a good article/website that is consistent with her gene mutation. Here is a link to what I was provided. It gives good tables, percentage risks, and just a general overview. Just thought I would post for those who would be interested r.

Genetics Phone Call

We received a phone call from the genetics counselor. One of Brooklynn's labs finally came back. We were excited because her microarray (the test that looks at the pieces of her DNA) were normal. However, it did come back with an incidental finding. We found out she is a carrier for something called Alpha 5 reductase deficiency. So what does this mean? It means that if she marries someone that is also a carrier, they have a 1 in 4 chance of having a baby who has this disorder. This disorder can cause problems if it's a boy that is born, and they will be born without testosterone. This also means that more than likely, at least one of us is a carrier. There is a small possibility that both of us are a carrier, and we just haven't seen it because we have 2 girls. So now we have to decide if we are going to be tested. We have decided that there is a possibility that we will want to have more kids - but if we find out we are both carriers, there is no way we are going to risk this by having another child. We are supposed to meet with the genetics counselor once that PTEN gene is back. We will find out more information at this time. While I am glad that her microarray came back normal, it stinks that we found out this "incidental" finding and knowing what to do with that information. It is still doesn't explain her other symptoms and things, so the PTEN test results might still show something, which stinks. Guess we will have to wait until October when those results come back.

Our life Is Different Now...

So I know people are wondering about my post today on Facebook. Well, the biggest reason for that post was we got a phone call on Monday. Brooklynn's labs came back. It was positive for the PTEN Gene Mutation. What does this mean? It could possibly mean a lot. One thing it means is that we finally have an answer to some of her medical problems. After 2 1/2 years of 8 specialty visits, and 3 1/2 months of waiting test results, we have an answer. I was just hoping it was negative. When they told us they were going to test her for this mutation, I of course got online and researched it. And I got on a blog called PTENlife.com. And as I read, my heart dropped a little with each kid. They had such similar stories to us. Their children were born large for their gestational age (Brooklynn weighed in at 8lbs, 6 ounces 4 weeks early). Their children's heads grew quickly, and went through a large range of tests, including CT scans, neurosurgery consults, genetics consults, mucopolysaccharidosis screening, and all came back negative. Their children have speech/developmental delays. Their children have large tonsils, asthma, and the same facial features (depressed nasal bridge, down slanted eyes), low muscle tone (Brooklynn has a weak upper torso). I kept saying that I was reading too much into the blog. You can find similarities any where if you look hard enough. But when I saw the boy on the front of the website, I just knew in the bottom of my heart that this was going to come back positive. And it did. Unfortunately, that voice in the back of my head that was telling me that there was something there, and to not stop looking until we have an answer - well that bitch was right (sorry for the cursing - but I so wanted that bitch to be wrong). Taken from the blog itself, here are some of the things that this gene mutation can cause..."A PTEN gene mutation causes tumors and growths in the body (particluarly in the thyroid and GI tract) since it is the tumor suppressor gene. According to published medical literature, other characteristics of the syndrome include macrocephaly (large head), low muscle tone, excessive drooling, vascular malformations [blood vessel abnormalities], lipomatosis [abnormal localized or tumorlike accumulations of fat in the tissues], hemangiomas [benign, and usually a self-involuting tumor, (swelling or growth) of the endothelial cells that line blood vessels], intestinal polyposis, high birth weight, proximal muscle myopathy, joint hyperextensibility, pectus excavatum, scoliosis , certain eye abnormalities, and in some cases developmental issues (which may meet the criteria for Autism) and mental retardation. Brown spots in the genital area are also characteristic. Certain benign skin lesions on the face, mouth, hands and feet are also characteristic (oral lesions, facial papules, and acral and palmoplantar keratoses). A person with a PTEN mutation may have some, all or none of these issues, and in varying degrees of severity." From another website, I found some statistics: - Abnormalities of the thyroid are present in about 60% of patients. These are usually harmless growths but occasionally may be cancerous. - Breast tumours: These are the most important non-cutaneous association. Fibrocystic disease resulting in benign lumps in the breasts is present in about 75% of women. Breast cancer occurs in 20-36% of patients. - Gastrointestinal polyps and other abnormalities are present in about 72% of patients. - Genitourinary tract involvement may include ovarian cysts and cancers. - Central nervous system – development of Lhermitte-Duclos disease caused by hamartomatous growths of the cerebellum (rare). - Skeletal abnormalities such as bone cysts. At least 40% of patients with Cowden disease have at least one cancer. There are varying degrees of the gene mutation, and we haven't met with the genetics counselor to find out exactly what part she has. But she said it is most consistent with the Cowden disease - which is the highest risk of getting cancer sometime in her life. She will have to have yearly thyroid ultrasounds from here on out. She will have to have yearly dermatology exams for the rest of her life. When she gets older, she will have to have earlier screenings for breast cancer. The risk for colorectal cancer is increased. The risk for intestinal polyps is high - so if she has abnormal stools we will have to start doing screening for those. She is at higher risk for having behavioral, social, or developmental problems. They see this a lot in autistic kids. When it comes time for her to think about having children, she has a 50% chance she will pass this gene on to her own kids. One of us might also have this mutation, so Sam will be tested first, and if his comes back negative, than I have to be tested. If either of us have a positive test, other family members might need to be tested. And we have a 50% chance of passing it on if we have any more kids (which we won't if this is found in either of us). This is life changing. This is stressful. This is crappy. This ultimately sucks! It could mean that nothing happens to her. But this could mean that something does. And to a mom, that statistic does not feel good. It hurts my heart. It wrecks me. It makes me cry every other hour. It makes me hate the world, and makes me angry. It makes me sad. I hate my insurance company - they denied to pay for this. This makes me grateful to the genetics at CMH, they knew a place to send the gene that would not break our pocket book. If it wasn't for their perseverence, we might not have had this test. And we might have caught something too late. If nothing else, I am grateful we know this is what she has, and we can make sure we screen her and watch her close, so if she did develop cancer, we would hopefully catch it early. I am a mother who is at a loss for words, but than has too many she wants to speak. I am a mom who wants to hug her children that much tighter, and keep my family close forever. I am done blogging now - I want to go be with my children and love on them and play with them, and let Brooklynn be a little girl, for as long as she possibly can be little.