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    Posted July 3, 2014 by
    kris2348
    Assignment
    Assignment
    This iReport is part of an assignment:
    Raising a special needs child

    Silas: A Medical Mystery

     
    We are an Active Duty Navy Family. Harvey serves at a sea going command and is gone around 6 months out of every year. We have two beautiful kids, Silas(3) and Violet(2). We are also thrilled to be expecting our third child in Aug 2014, another boy. After nearly three years of “medical bad luck” and doctors who did not think Silas condition was serious enough to do much with in the way of further testing, we were blessed to find a Primary Care Doctor who took Silas seriously and could see the (then) subtle differences in him. She listened to me as his mother and soon we were on our way to Genetics and Neurology for evaluations. We found out in the fall of 2013, while Harvey was deployed and unreachable, that Silas had a duplication on his 6th chromosome. He is the only person on record to date with this exact duplication. Talk about an unexpected blow! We were told because he was the first/only person they were unsure if this was causing the issues Silas was having at the time and while they could not say for certain, they had no reason to believe he would get worse. Unfortunately, they were wrong. In Dec 2013 we found out we were expecting our 3rd child. Right about the same time, despite going to Physical, Occupational, and Speech therapies on a regular basis, Silas began to show signs of decline. Some of them included: suddenly needing us to repeat ourselves, he could no longer go up or down stairs unassisted, he was falling on flat ground, he was slower, he began dropping food from his fork, spilling water all over himself and other involving motor skills. We have since found out that he has no response from any of the sensory nerves that were tested on the NCV (nerve conduction velocity). That means Silas does not know where he is at in space. He cannot feel the world around him like the typical person. We were also told that he had no response from either ear on the ABR (auditory brainstem response), which means he has Auditory Neuropathy. Auditory Neuropathy is a newly diagnosed type of hearing loss where the hearing is relatively normal all the way past the cochlea and the nerves which are between the cochlea and the brain scramble the signal so the brain does not get accurate sounds and most times it means Silas cannot understand the actual words we are speaking to him. Because of the type of hearing loss, a Cochlear Implant has about a 50% chance of working. A visual language like American Sign Language is a must.
    As a result of these tests and the other areas Silas is showing decline in, it has led them to believe Silas has one of two rare genetic disorders. One that called Infantile Onset SpinoCerbellar Ataxia, there are roughly 50 documented cases of worldwide in which Harvey and I would have to be recessive carriers of and could be a risk to all of our kids. The other called Charcot-Marie-Tooth neuropathy type 5 would have been passed from me to Silas and only effects males while females are carriers. Obviously, without proof they cannot tell us for sure what is happening to him. We only know that it is progressing. And this seems to be happening now quicker than anyone expected. Since we are soon having another boy, it would be nice to know what to expect for Baby Sawyer. Both have the potential to drastically shorten Silas life expectancy as well as take away his hearing and vision completely while he will continue to lose mobility. Because it is so rare, the testing is considered experimental and there is no way it is FDA approved so our insurance will not cover it. The out of pocket cost is so astronomical, we cannot begin to consider covering it and survive on top of the added cost of appointments, a special diet, and the fact we have to drive at least an hour(sometimes two to three hours) one way to see his specialists. His doctors have exhausted the appeals process to insurance and we have contacted every major hospital that we can find only to be denied again and again. Most of them do not do the testing themselves, they only treat after diagnosis or they will not do testing without insurance paying for it. So, we sit here and watch our child decline. Now, however there is a ray of hope, Silas has been submitted to the undiagnosed disease program and we are waiting for a response from them to see if he is selected.
    In the past three months Silas has needed a hearing aid, AFOs and a walker. His team also wants him to have a special compression suit that is supposed to help gives his nerves some of the input they are lacking but we are currently battling insurance for that as it has also been denied. He no longer attempts to use utensils to eat because he has trouble finding his mouth and cannot stand to make a mess. We have been told by all of the specialist Silas sees to prepare ourselves for him being in a wheelchair sooner rather than later. No one seems to be able to answer why this is happening to our sweet boy, which is the most frustrating thing you can imagine. Cognitively he is untouched. So he is beginning to see that he is not like other kids his age. He is asking me questions like why other kids won’t play with him or wait for him at the playground. He sees that he cannot keep up with his younger sister. And he gets frustrated when he cannot hear us. How can I give family and friends an explanation that satisfies their curiosity and longing to help when every day is a new challenge and Silas condition is constantly evolving? How can I explain to his sister why we are constantly on the go and Silas has to go to so many appointments? Am I neglecting her and her needs? She is so easy going and even though she is not yet three, she is amazingly understanding about having to sit at therapies and doctor offices. Will she and this new baby resent us? We both wanted a large family. However, is it fair to any of our children to continue to have kids when there are so many uncertainties about our oldest? Most importantly, how can I explain these things in terms a three year old will understand when I do not even have the answers to give him?
    So, what is it like for us raising a special needs child? It is lonely; People suddenly stare at you everywhere you go but do not speak to you. You lose friends. Not because they do not care but because they do not understand and it becomes hard to relate to each other when you seem to have nothing in common anymore. Our world is filled with therapies and tests and appointments. Theirs are filled with playdates and back to school shopping. It is stressful; to never know if you child will be able to get himself out of bed this morning when you wake up. To constantly worry that someone will give him a type of food that makes his mobility worse. To realize even with all the medical advances in the world, you might never have a black and white answer as to why your child. Or even any sort of timeline as to what his decline will look like two years from now, even a month from now. It is devastating; to know that you cannot do anything to change what is happening to your child. To know that your husband, the father of your children wants to be able to go to appointments and hear results and plans of action first hand but he cannot. He is doing what we have decided as a family is best to provide for us, serving his country. I admire him and I am so thankful for him every day for the sacrifices he makes to take care of us and provide me the opportunity to stay at home and care for all of our children. It is time consuming; to battle insurance, school systems, doctors, churches, everyone to treat your child as equally as possible. It is a financial strain; there have been months where we have spent over $800.00 in gas alone taking Silas to and from appointments. When you go from having a tight budget and planning every penny to so many unexpected expenses on a daily basis, it takes a long time to adjust. It is faith building; when you have nowhere else to turn, you look up. It has completely revolutionized my relationship with my Savior. It is also a blessing; we have grown so much closer not only to each other but to my extended family and I cannot imagine traveling the journey without my mom, brothers, and their families as support when Harvey is away. We also have some amazing doctors working with us now. Without them, we would not know nearly as much as we know about Silas. They have gone above and beyond and done everything in their power to get Silas the things he needs.
    While there are still days I mourn about the life I think Silas should’ve had and in turn, the life our entire family should’ve had, I realize there is a bigger picture that I am not privy to. I cannot allow myself to sink to that place where I resent families with “normal” children. Every family has their challenges. I cannot say in the last year I have learned not to worry, I have learned to let things go. To focus on what we do have instead of what we don’t. Will there still be bad days? You bet! I would be lying if I even though for a second there wouldn’t be. But we have got to be able to get it all out, pick up and move on from those bad moments. We have spent a lot of time talking about Silas and what the future might look like for him and I can honestly say, while I pray every day I can take away his pain, I would’ve chosen him to be my son. Even if I knew things would’ve turned out this way, I would not trade him for any other child. We were given all three of these kids for a reason and I am going to cherish all the time I get with them. He is such a happy little guy and we are so thankful for every moment we spend with him and his siblings. We plan to spend the time we get together as a whole family unit letting our kids experience as much life as they possibly can. Creating memories that will last a life time. Silas has a facebook page if you are interested in getting updates and following his story.
    https://www.facebook.com/Silasamedicalmystery

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