Today is International Angelman Day, a day when families and organizations affected by Angelman Syndrome around the world celebrate our kids, their achievements, raise awareness of their challenges and raise money to help orgs help our families with research, resources and support!
My son, Chance is 12 yrs old , he was diagnosed at 2 yrs old. Back then we started noticing his delays at around 9 months old. He wasn’t sitting up, crawling, and barely rolling over. We started early intervention therapy at 16 months old, which meant therapy 3-5 times a week. When doctors started telling us there was a possiblity of a genetic syndrome google became our best friend. My husband and I started googling syndrome that cause developmental delays. On one such list we saw Angelman Syndrome at the top. Clicking through to the website Angelman.org , we read all the symptoms and it was like we were reading a description of Chance.
Getting this kind of diagnosis can be hard. You have this beautiful baby and all the dreams of how this baby will grow up and achieve the usual life milestones, school, marriage, jobs, etc. And then a dr comes in and gives you a completely different future. Now our life was filled with therapies, and school meetings, and specialists.
Chance can still not walk independently, he cannot speak any words verbally and has very little control over his movements, he also has hard to control epilepsy so his seizures are always at risk of showing up. But he is also a typical 12yr old in many ways. He gets incredibly annoyed at his younger sisters wild antics, he loves youtube and playing on the ipad and drawing any chance he gets and he loves to be in the middle of any group activities.
We have been working really hard the last few years to teach him how to use the AAC app Compass with PODD. His school has been really involved in helping his literacy skills, and building his physical abilities as he loves PE class and walking in his walker playing games with the other kids.
There area a lot of organizations around the world dedicated to helping families with Angelman Syndrome. Some orgs focus on just local families and some have a more broad focus and raise money for research and conferences. I’m very proud to support several of these orgs, including being on the board of The Angel Karly Foundation which helps families around the San Antonio/Austin area with events and workshops. Every year I also attend the FAST Gala which helps raise money and funds incredible research to hopefully find a cure or treatment for Angelman Syndrome as soon as we can. The Angelman Syndrome Foundation also puts on a conference biannually and does online webinars and funds great research as well.
One thing I love most about International Angelman Day is that its a celebration amongst a world wide tribe. Our lives can be somewhat atypical but with the love and support from our Angelman family we’ve been able to push forward with hope and support. My AS family has made this journey a lot easier and certainly more enjoyable as I have met some of my now closest friends through this community.
Please click on any of the above links and consider donating or at least sharing their information so we can help spread awareness and promote research that will only improve our kids life.