Angelman syndrome, a once little-known neurogenetic disorder affecting one in 15,000 people, is suddenly gaining a lot of attention in the U.S. Symptoms of the disorder have been alleviated in lab mice, which could lead not only to a cure for Angelman, but also other neurological disorders including Alzheimer’s and autism.
With scientists so close to a cure, funding research on the disorder is more important than ever. This summer, Vivint, a home security company, is giving away $2.5 million to charities through a Facebook voting contest, with the Foundation for Angelman Syndrome Therapeutics (FAST) currently leading in votes for a chance to win $250,000 for research.
We sat down with Michele James, who’s daughter has been diagnosed with Angelman’s, to learn about her daughter’s experience with the disorder and the Facebook contest that could help change the lives of thousands worldwide.
– Ashley Anderson
Tell us a little about your daughter.
Her name is Storme, and she is 20. She has Angelman’s syndrome. She was diagnosed at 11 months old in 1992, and when they diagnosed her, nobody knew exactly what it was. I was in dental school at the time and we got on the medical computer and started looking up journals and scientific articles. All I found were 322 kids in the world at the time (with the syndrome), but now I know that there are Angelman syndrome societies and families – it’s all over the world.
Storme has a lot of the classic characteristics of Angelman, but she’s lucky compared to a lot of kids with Angelman. She loves water – every Angelman child loves water. She’s always happy – another classic Angelman characteristic. She’s just a great kid. She can’t speak, but she understands a lot and has a lot to say.
How do you communicate with Storme?
Right now we’re working with the iPad. The iPad has a whole set of speech programs. There’s pictures and she can touch them and it will say whatever she wants the picture to say. She’s still learning that, but her favorite form of communication is gesturing; just a few signs she’s kind of picked up and made her own. It’s limited, but we get by with the basics.
What is the biggest challenge and/or blessing you’ve experienced from having a child with Angelman syndrome.
There’s fortune and misfortune. The biggest blessing is that she’s just so happy and she keeps you so grounded. You stump your toe, and she lays on the floor laughing. No matter what’s happening, she always brings a smile or something positive.
As for the challenges – just trying to teach her independence. It’s tough when you’re young and you have a child and you always think you know exactly what your child’s going to grow up and become. You have this idea of who they are and what they’re going to be – if they’re going to be like you or take after somebody else in the family. You quickly learn it’s completely opposite. I worry about her future because she’s long-term dependent. So, there are blessings and challenges all rolled into one.
What advice do you give others who have a child or know someone with Angelman syndrome?
Having an early diagnosis helps because there are certain behaviors we knew that would be classic. All the things we knew that she was likely to do, we were able to try to intervene and help out. My daughter is very lucky. She’s never had a severe problem with seizures, and she walks pretty well. Having that early diagnosis really helped though.
It’s a fight. You have to push and you have to battle, and it’s something that you have been charged with as a parent. You cry for these kids, but they have not a care in the world.
They’re happy! Just protect them and love them and see the joy that they see in their world. Don’t quit on them because they wont quit on you. They just keep loving, and you just have to give it back.
Tell us about the Facebook contest that FAST is currently leading.
Angelman syndrome is neck and neck in the contest. Voting is free and will be held until Aug. 27. You can cast your vote every day. You can also donate to FAST at www.cureangelman.org if you don’t have Facebook. But, on the Facebook voting page, they are currently matching donations. Each regional winner gets $100,000. Each national winner gets $250,000. That $250,000 could run a research lab for a couple of years. And we’re that close. It could be that $250,000 that pushes researchers over the edge.
Vote for FAST at www.vivint.com/givesbackproject/charity/43 or visit www.cureangelman.org for information or to donate to Angelman syndrome.
Contact writer Ashley Anderson at email@example.com.
Category: The Spotlight
About the Author (Author Profile)
Ashley spends half her time writing stories at The Voice-Tribune office and half her time out on the town conducting interviews, while occasionally dressing in wild outfits to fully immerse herself in the experience (aka Princess Leia at Comic Con). Ashley is a huge UofL fan and loves the Yankees and the Boston Celtics (she is fully aware of the irony). She hopes to one day outshine Erin Andrews on ESPN and enjoys running, Bardstown Road/Fourth Street, Breaking Bad and reality TV (she’s not ashamed to admit that).