The day my son was born in 2010, I told my mother there was something different about him.
Everyone told me he was fine and I was just nervous as he was my first child. He spent much of the first year with unusual infections and illnesses but still developed and thrived. I was dismissed by doctors. Around his first birthday he developed a staph infection in his right hip. It was extremely painful and he would not go on to walk for almost an entire year after this. I spent most of that time advocating for my son and looking for doctors, physical therapists, anyone who would listen and take Silas seriously.
We finally found a primary doctor who was somewhat skeptical at first, but told me that I know my child best and sent us to geneticists last summer. Silas began to change slowly, he was having more trouble walking and when we finally got his results in Sept of 2013 they did not come with any real answers. We were told that Silas was the first/only person on record with his duplication and they could not be certain that was the cause of his symptoms. They decided to monitor him closely and also referred us to Neurology.
In December, Silas had a decline. It was as if you could see the difference overnight. When we got back from Christmas vacation I contacted Neurology and Genetics right away. We were seen again and they agreed that there is most likely another cause. Since December, Silas has days where he can hardly get out of bed and days where he has almost no hearing at all. We keep finding symptoms and no root cause. They believe he has a rare form of Ataxia on top of the known duplication but the test is not FDA approved so insurance will not cover the Ataxia Panel and the cost is too great for us to begin to consider.
We now know he has Auditory Neuropathy which is a fairly newly diagnosed type of hearing loss that only effects the nerves in the inner ear and not the ear itself. He has also developed swallowing issues, a gluten intolerance, a curve in his spine, his legs just give out, he no longer has any response from his sensory nerves and so many other small things.
Despite all of this, he is a happy little boy and most days determined to keep up with his younger sister.
Even with so much unknown and uncertainty, I know his team of Doctors will never give up on him. I am confident his doctors will do everything in their power. I cannot put into words what it has meant to us to have such dedicated medical professionals on every front who do not just treat Silas as another patient, but who genuinely care for him and go above and beyond what is expected of them. They have been such a blessing to our family and I cannot say enough good things about them. It gives me so much hope to know if there is ever an answer or a cure, they will find it for our child.