- CASE FILE
My son went from "normal" child to bound to his bed and wheelchair in a matter of 3yrs. Needing assistance with everyday task.
ABOUT THIS CASE FILE
My 12 year old son hit every milestone growing up. He was a bit clumsy, but we didn't think anything of it. He joined soccer, then basketball, and then jiu jitsu until I could no longer take him due to my work schedule. He loved helping his dad in the farm, and me in the kitchen.
At the age of 9, we started noticing that he was walking slower and different. He was stomping instead of heal toe as he walked. My husband thought maybe it was due to him gaining weight and not being as active, I had a feeling it was something else. Later that year, he joined the "Awesome 3000," a relay for kids. He had joined a couple times before, and both times was in the middle of the group. This year was very different. My sister and I were ready to cheer him on as he ran by. He was not in the middle nor the end. I thought maybe we missed him. We went to the parent pickup area. I didn't see him, my heart dropped. I asked the staff if they had seen him, they said no. They called the staff that was out in the fields and asked if he was still out there; he was. Apparently my son's leg gave out. He could not finish the race and had to be escorted to the finish line. We let him rest for a while and drink water, then went home.
I knew it wasn't just the weight gain, I knew there was more. Months later I finally took him in to the doctor to talk about this. In that very first appointment I asked for an MRI but his doctor said he would refer my son to a neurologist and have him determine if one was needed or not. Meanwhile, he did prescribe some foot braces.
A month or so later he finally saw the neurologist. I again asked for an MRI but the neurologist didn't think one was necessary. Instead he ordered and echo, an EKG and for him to see a physical therapist. Thankfully both studies had good results. But physical therapy wasn't doing much for him. Months past and my son was walking even slower and getting tired fast. One day at PT his doctor therapist noticed that his eyes were moving side to side a little. She sent a message to his doctor and I again asked for an MRI. His doctor referred my son to see an ophthalmologists. We went to the appointment and I asked if he thought an MRI was needed, his response was yes but since the neurologist had no that he would prefer if my son saw a pediatric ophthalmologists first. So we did, and she was shocked that an MRI was not ordered before.
About 8 or 9 months after I first asked for that MRI, one was finally ordered. A day later his neurologist called me letting know that the MRI showed cerebellar atrophy. His brain nerves were dying, but why!? How can this happen!? What did I do wrong!? The doctors couldn't give me an answer.
As months past by, more test were done and my poor son kept getting weaker. First the legs, then the hands, then the arms. He started shaking, at first a little and now almost all day which is all part of the Ataxia that comes with the cerebellar atrophy. He went from foot brace, to cane, to walker, to wheelchair, to most of the time in his bed. He can't feed himself, dress himself, he is to the point where he can hardly even talk and he is now needing diapers.
My son is currently a part of the undiagnosed disease network. He has had skin biopsies, muscle biopsy, spinal tap, exome sequencing, and much more. Many diseases have been ruled out such as lime disease, niemann disease, CACA1A, KSS, NUBPL, rett syndrome, and many more.
No child deserves to go through all this. PLEASE help us! PLEASE help my son!!!