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.
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.” …