Growing up with Cerebral Palsy I often wondered if I would ever experience my happily ever after. The fairytales my mom read me always followed the life of a beautiful princess falling in love with a handsome prince. You never read about a prince and princess in wheelchairs or with any type of disability for that matter.
Cohort-based whole exome and whole genome sequencing and copy number variant (CNV) studies have identified genetic etiologies for a sizable proportion of patients with cerebral palsy (CP). These findings indicate that genetic mutations collectively comprise an important cause of CP.
We got the diagnosis of Cerebral Palsy when Lelia was 18 months. I was really happy, as we didn’t know what was wrong with her before then. She had low tone. She couldn’t roll over. She couldn’t sit up. Of course she didn’t walk. The diagnosis gave it a name, something I could work with, and I became a kind of vigilante mother, determined to get the best care for my daughter.
As we all know, becoming a teenager means significant upheaval, not only physically, but in terms of friendships, in terms of learning, and life outlook. This is also true for adolescents with cerebral palsy and other developmental disabilities. We know that whilst we may of spent a lot of time focusing on their physical abilities and other difficulties it is not the only part of their life.
Around the age of six all children are going off to school. Children move from explorative play, which is fairly informal to a much more formal day. That can be a lengthy day and it's quite structured. There are a lot of challenges faced by children with cerebral palsy throughout the school year.
We all have different towns and we all have different things that we do in the course of the day. It may be that the student is a great artist or a great writer. When it comes to assistive technology we have to think about what is going to give that student the ability to do what they love without having to see roadblocks and go, "I can't do that”. There are so many tools out there, whether it's a communication app, a video app, a math tool. With assistive technology you are not making the student into what you want them to be.
When treating a child with CP, part of a pediatrician’s job is assessing and treating children with abnormal tone difficulties, as well as other muscular-skeletal problems. From around the age of two years, kids start to develop difficulties with muscle tone that can have an impact on their hip development.
To give you an idea about genetic variation between each of us, there are about three million differences in our genetic code. They go to influence the color of our hair and the color of our eyes, the way we walk.