Our patients' stories: Looking towards the future of Angelman syndrome

Michelle and Dustin Sclater’s son Jake was born with Angelman syndrome, a genetic condition that affects about 1 in every 10,000 people. Raising a child with a rare medical issue feels isolating at times, but the Sclaters are determined to raise awareness about the condition, both in the medical community and the world at-large.

Sclater family. (Jake is featured in center)

Jake Sclater loves Tater tots. He can’t ask for them by name, but sitting across from him at a table at Children’s Hospital Boston’s cafeteria, it’s easy to tell he’s ready for a few more of his favorite treats; with a friendly smile a quick point of his finger, Jake lets his mother Michelle know that lunch isn’t over just yet.

Jake can’t ask for more tots because he has Angelman syndrome (AS), a rare genetic disorder that affects the nervous system, resulting in developmental delays and severely limited speech. Problems with movement and balance are also common, as are seizures. (Fortunately, in Jake’s case, he only has occasional seizures.) But more prevalent than any of his symptoms is Jake’s infectious laugh, fun-loving demeanor and bright eyes, all of which are also typical among kids with AS.

The Sclater family lives in the Washington D.C. area, but is visiting Children’s to be part of the Angelman Syndrome Natural History study. Children’s is one of five sites across the country taking part in the study, which follows individuals with AS to help doctors learn more about their development and growth through the years.

While at Children’s, Jake will also be a participant in a Children’s sponsored drug trial, testing the effectiveness of medication for children with AS. Children’s doctors are studying whether or not the drug levodopa – commonly used to treat adults with Parkinson disease—could be helpful in controlling tremors and involuntary movements often seen in AS patients, as well as boost cognitive function.

Boston is a long way from the Sclater’s home, and the studies mean a lot of extra time in doctor’s offices, but Michelle says there’s far too much mystery surrounding AS and is willing to do what it takes to help the medical community learn more about it.

“There’s so much people don’t know about Angelman patients, especially what life is like for them as they age,” she says. “Years ago when kids where born with AS they were often institutionalized, probably without being properly diagnosed, so no one really knows what life has in store for kids like Jake when he get’s older. We’re here to try and change that.”

Michelle’s strong sense of community can be found among other families on AS list serves and websites. In fact, it was the online Angelman community that offered Michelle a huge source of comfort when Jake was first diagnosed. “I don’t know how people raised kids with Angelman back before the Internet was around,” she says. “Technology has done so much to connect us to other families dealing with similar issues, which is great because we all support and learn from each other.”

Inspired by the support their family received, Dustin and Michelle have taken that sense of community to the next level and started The Angel Fund, Inc. a nonprofit that aims to raise money for Angelman families looking for financial help in order to get alternative therapy for their kids. Alternative therapies can do wonders for many kids with medical issues, but are not usually covered by insurance plans.

Jake with two dolphins, Fiji and Bella
Such was the case with Jake. Four years ago, Michelle and her family took a trip to Florida so Jake could visit Island Dolphin Care, a nonprofit organization that lets kids with special needs interact with live dolphins as a way to motivate them and boost their confidence. Jake responded very well to the IDC environment and after just their first day Michelle knew her family would be back next year. But seeing how well Jake responded to his time with the dolphins Michelle felt just planning a return trip wasn’t enough; she wanted other moms to share the joy she felt seeing Jake blossom in the dolphin lagoons.

 

“Any time you want to try therapies that think outside the box you’re bound to get pull back from the insurance companies,” she says. “Dolphin therapy was just so motivating for Jake I knew it could help other kids and I wanted to help them have that experience. Even if we can only send two or three kids a year to special therapy it’s worth it.”

The Angel Fund raises its funds through golf tournaments, private donations and is in the process of setting up a way for people to make charitable donations electronically, through employer programs such as The United Way and the Combined Federal Campaign. By early next year, Michelle and Dustin hope they’ll have raised enough money to send a few kids to alternative therapy sessions, specialized camps and respite care not usually covered by insurance.

And the therapies don’t just help kids; the whole family often grows from the experience. For Michelle, just knowing that she could provide Jake with a therapy he truly loved made her feel less overwhelmed by his medical condition, which despite her deep love for him, she can’t control.

“If I could put the missing piece of Jake’s chromosome back I would, but obviously that’s not a possibility,” she says. “Just knowing there’s something I can do that helps him communicate means so much. Every mom who has a kid with special needs deserves that chance.”

Are you raising a child with Angelman syndrome and would like to participate in the two AS studies currently being conducted at Children’s? If so please email Hillary Chu for more details: Hillary.Chu@childrens.harvard.edu. To learn more about the studies themselves, check out this post from Vector, our science and innovation blog.

Want to learn more about The Angel Fund, Inc.? Please visit their website.