February 15th is the first ever International Angelman Syndrome Day. Aside from possibly hearing it from me, I bet you have never heard of Angelman Syndrome before. I had never heard of it before. It’s pretty uncommon. Only 1 in 15,000 people have it. One of those people is my son, Cole.
We did not know he had it during my pregnancy, nor did we know when he was born. We didn’t even know he had it when he turned one… or even two.
It took us two-and-a-half years to find out that my son Cole had a deletion on his 15th chromosome. This deletion was actually on the maternal side of the 15th chromosome, giving Cole Angelman Syndrome. If it had been on the paternal side, it would have been an entirely different syndrome – Prader-Willi Syndrome. This specific deletion contains an important gene that would normally aid in brain function. This is the reason that people with Angelman Syndrome have symptoms like seizures, developmental delay, and complex communication needs.
Not everything about Angelman Syndrome creates a struggle for Cole, though. When Cole was an infant, he only hit one milestone on time. It was smiling. Cole, and other people with Angelman Syndrome, are typically VERY happy people. They are constantly laughing and smiling. They are also very social and make wonderful friends.
Cole is making great progress, though. He just started to walk only holding on to one finger for help! He’s eating with a fork – as long as you put the food on it for him, and he’s starting to wave. He is a complete joy.
The good news is that there are already clinical trials happening for a therapeutic cure. In fact, the Foundation for Angelman Syndrome Therapeutics is wrapping up the first clinical trial this month. That means it is possible, within the next few years, my son may have the opportunity to talk. I just may have the opportunity to hear him say, “I love you, Mom.”
Jenn Kubicza is a mom of two little boys, one of whom has a neuro-genetic disorder called Angelman’s Syndrome and will require extended diapering.