By Angela Gartner
Four-year-old Imogen (Immy), who was diagnosed with Angelman syndrome (AS), a rare genetic disorder, is a super happy, affectionate child who loves the water, according to her mom, Beth Phillips Synk.
In fact, Synk says that was one of the clues to Immy’s diagnosis. Children who have AS are often happy, smile and laugh. The condition also includes developmental delays, speech and mobility challenges, and seizures, according to Cleveland Clinic.
“It was a long journey to get an official diagnosis for her because of how rare the condition is and how few medical professionals were even familiar,” Synk says. “We’ve been navigating having an official diagnosis and everything that means.”
Synk and her husband, Mike, have been taking advantage of any therapies or activities they can find for Immy. These include physical, occupational, aquatic and music therapies, as well as Camp Cheerful’s Therapeutic Horsemanship program in Strongsville. They also have her in the early intervention program for preschool.
“I think children should have as much access to therapy as they need,” Synk says, noting the struggles in qualifying for Medicaid or Medicare and having to pay for many services through private insurance.
“I am fortunate that I have a good job with good insurance, but it makes me think of other children who might not be in that same position,” she says.
Immy, who has an older sister, Annabelle, 6, is also very social and the family has attended free resources such as adapted storytimes and an adapted playgroup from Connecting for Kids, which serves ages 6 and younger and their parents.
Synk adds parents at the playgroup have the opportunity to connect with others, take a respite break for themselves and play with their children in a safe environment away from home.
“I think what’s great about the adapted playgroup is everyone is encouraged to come as they are,” Synk says. “No one is judging you or telling you that you need to leave or handle your child better. A place like an adaptive playgroup, you just feel much more welcomed and accepted, because everybody knows that all of these children have differences — and that’s absolutely fine.”
Here are local resources the Synk Family has utilized for Immy:
- Connecting for Kids, connectingforkids.org
- Achievement Centers for Children (PT, OT, SLP), Camp Cheerful, Therapeutic Horsemanship, achievementcenters.org
- Christopher’s Promise (adapted bike), christopherspromise.org
- A Special Wish NEO, aspecialwishneo.org
- For adapted storytimes, check with your local library
Learn about Angelman syndrome:
- Angelman Syndrome Foundation, angelman.org
- Foundation for Angelman Syndrome Therapeutics, cureangelman.org
