March Featured Alexander Disease Patient
Written by David’s mom, Melissa Sciera
David was born a healthy and happy baby. He wasn’t a great sleeper and spit up all the time, but babies do that, right? Some of his early milestones were also a little slow in happening but babies develop at their own pace, right? When he didn’t get up on all fours to crawl but rather chose to get around on his belly, I thought he was adorably quirky. He was a smiley and content baby. At 11 months he was diagnosed with food allergies to dairy, egg, and peanut which I thought this explained the excessive spit up. At his 18-month well-visit, when he wasn’t walking independently or saying many words, the pediatrician suggested early intervention. I thought the extra help would give him the confidence to improve. We started physical therapy for his low tone and speech therapy. David took his first independent steps just shy of his 2nd birthday. It was a great day!
Due to his severe ankle pronation David started wearing AFO ankle braces to help with his stability when walking. His speech improved but his appetite started to decline. He wouldn’t experiment with food and was reluctant to eat anything new. We began occupational therapy to assist with food aversion and sensory issues pertaining to food.
Everyone who worked with David from his pre-school teachers to his therapists all fell in love with him. He started kindergarten and kept pace with his peers and met the goals set for him through his various therapies. As he progressed through the first years in elementary school, we noticed he was falling behind his classmates, so we began special education classes. His therapies were becoming more challenging and he was slower to meet his goals if he met them at all. His stability worsened. He stopped gaining weight. His elementary school nurse told me that she felt there was more going on than simple low tone. She urged us to seek medical advice from a specialist. And luckily, my friend is a pediatric neurologist. We made an appointment and scheduled our first of many MRIs. David was 9 years old.
I will never forget the moment I received the phone call giving me the results of the MRI. Words like white matter changes in both hemispheres and cerebellum, demyelinating, demyelinating, and muscular dystrophy were mentioned. I was in the car and scrambled to find a scrap of paper to write this down. I still carry that slip of paper in my wallet. I don’t know why.
This began a series of tests that would last for months. More MRIs of not only his brain, but his spine, eye exams, sleep studies, swallow studies, blood work, more blood work, nutrition experts, gastroenterology, physiology, lumbar puncture, and finally genetics which confirmed the Alexander Disease.
Receiving David’s official diagnosis was a slice through my heart. I reached out to the community for support and found an online support group. Through this group I learned of the work being done by Dr. Messing and Dr. Waldman and we immediately made a trip to the Children’s Hospital of Philadelphia to participate in the natural history study. Dr. Waldman gave us hope that there was a future treatment possible. The support group posted all links to research, updates, and ways to support each other. This group became a lifeline. The members became my family. When someone had something to celebrate, we all celebrated. When there was grief, we all grieved.
The announcement that there are pending clinical trials on the horizon lit up the community. We are all on the edge of our seats waiting for news, any news that could mean help is coming for our loved ones. For the first time since this journey began, I see the light at the end of this very long and very dark tunnel.
The announcement that the clinical trials will soon begin has brought emotions to the surface that I am trying to control. The thought that this journey could possibly go another way has me both euphoric and terrified. There is a possibility of a future. The next few months are going to bring about a change. At the writing of this account, the criteria for the clinical trial has not yet been announced. Until then we are in a holding pattern, waiting for our future to be defined.
David will be 13 in April. He has the biggest heart of anyone I know! David has taught me about life in ways I never could have learned otherwise. He works hard at his therapies and his schoolwork. He has developed neuromuscular scoliosis and wears a back brace. He also still wears braces on his legs as his stability has continued declining. He uses a walker for assistance and a wheelchair for longer distances. He is still a very picky eater but with a nutritional supplement, he has maintained a healthy weight. He loves to crack jokes and always kisses my hand when I help him walk across the room. He is my heart!