The Conundrum
One of the struggles of having a diagnosis like Angleman Syndrome, is that it’s so rare. I’ve shared in the past that roughly 500,000 individuals worldwide have this syndrome. So while Maddie needs lots of therapies, insurance companies can be a hassle. The insurance companies can be stingy, and since there isn’t overwhelming data, they tend to be more conservative. This conservative approach leads to a denial of services.
The work around, is to have your child diagnosed with another syndrome. Most commonly, providers try to pair Angelman Syndrome with an Autism diagnosis. While early on, Angelman Syndrome can mimic Autism, Angelman Syndrome is not on the spectrum. The two most common traits that Angelman Syndrome shares with Autism, is the developmental delays and the non verbal aspects of both syndromes. The two share the same genetic basis, but are separate disorders.
With the closeness of Angelman Syndrome to Autism in children, there is a push to have an Angelman child diagnosed with Autism. With a diagnosis like Autism, families can access a larger array of services. With a diagnosis like Autism, it is harder for insurance companies to deny therapies like Applied Behavorial Analysis, better known as ABA therapy.
We are currently waiting to have Maddie tested for Autism. While Maddie is non verbal and globally delayed, that is about the only symptoms Maddie has. Instead of being more reclusive in public, she seeks out attention. While we were in church today, she was at her best.
There were three young boys that sat behind us with their family. Maddie started right to left. She would make eye contact and smile. She then would start to giggle and move on to the next youngster. We didn’t even need to distract her with toys, she was soaking up the attention from these strangers.
This is the dilemma that we face. While we are pretty sure that Maddie technically doesn’t have Autism, we are forced to seek out testing just so that Maddie can have access to services that she needs. In addition, an Autism diagnosis might have a negative effect on her education at school. They could add services and tasks that Maddie does not need, due to to this diagnosis. Which will mean another fight when it comes to Maddie’s individualized education plan.
These are the frustrating parts of a rare syndrome. We do not want to game the system. We only want to do what’s right for our child. If that means getting another diagnosis, we will. It would just be so much easier if the world had a little more common sense, instead of protecting the bottom line of a corporation. That however, is a can of worms we’ll unpack another day.
-Written by Adam Birchmeier
