The biggest thing Megan Ramsey has taught those around her during her 35 years is this: Be patient, then watch out.

Megan Ramsey didn’t start talking until she was 5 years old, “but she hasn’t stopped since,” according to her mother, Diana.

Due in part to a partial cleft palate and swallowing issues, it took Megan a year and a half to learn to eat solid food, but she has eaten independently once she got the hang of it.

She didn’t walk until she was 4½ years old, and then became a whirlwind who loves to dance.

“Early on, when I was working to get Megan services at a public school, one school psychologist told me, ‘A word of caution: If we let Megan think she is normal, she is liable to try to do things she really can’t do.’ I told her, ‘Why don’t we let Megan decide what she can and can’t do.’ Specialists tried to limit her, but Megan is an indomitable spirit,” Diana says.

Advocating for Megan

Diana, an educator herself, was a powerful advocate for her daughter and worked tirelessly so Megan could achieve her potential despite being born with Cornelia de Lange syndrome (CdLS).

“I had a voice and I used it,” Diane says. “I decided to be optimistic and to do whatever I could so Megan would feel hopeful and happy.”

For example, Diana created assistive devices when none existed to help Megan sit at the table because she didn’t have the balance and muscular control to sit on her own. When Megan started kindergarten, Diana suggested that she use a box under her feet to support her while sitting because her legs weren’t long enough to reach the floor, even in the smallest chair.

Megan’s family included her in all they could and, as a result, “the town council made a proclamation, and the whole town adopted her,” Diana says.

Megan eventually attended Midland School, a nonprofit special education school in New Jersey, and now lives in a residential facility for adults with mental disabilities. The group home provides the environment Megan needs and her family can’t provide.

“It takes a team to manage Megan; it’s not a one- or two-person job,” Diana says. “On a bad day, Megan might have multiple meltdowns, and the behavior specialists and staff are prepared to handle that.

“Megan feels very independent living in her group home community. She’s happy,” she adds. “Megan loves the people there, and they love her back! Of course she loves to come home for a visit, but she’s fine with going back.”

Growing and learning about CdLS

Megan is followed at the Center for Cornelia de Lange Syndrome and Related Diagnoses at The Children’s Hospital of Philadelphia. The CdLS Clinic treats adults as well as children.

The Ramseys were connected to the Center even before it officially existed. When Megan was born 35 years ago in Allentown, PA, few doctors even knew about CdLS. But Laird Jackson, MD, then at Thomas Jefferson University Hospital, did. As part of a March of Dimes-funded program, he traveled to hospitals all over Southeastern Pennsylvania and New Jersey to see babies with birth defects and visited Megan in the intensive care unit.

“As a mom, all I knew was that Megan struggled to breathe and had oddly shaped hands,” Diana says. Jackson gave the family the diagnosis.

“She was a chubby baby so she didn’t show the classic facial features,” Jackson remembers. Because he had “read a few articles,” he became a de facto CdLS expert, and when a handful of families with children with CdLS banded together to create the CdLS Foundation, Jackson became the medical director.

Jackson, now a professor at the Drexel University School of Medicine, later connected with CHOP’s Ian Krantz, MD, and the pair discovered the first CdLS gene in 2004. They continue to collaborate on research, and Jackson consults on CHOP patients and supports the CdLS center. The Ramseys had stayed in touch with Jackson over the years and came to Philadelphia in 2004 to celebrate the gene discovery.

“First there was Dr. Jackson,” Diana says. “I remember when Ian [Krantz] came in as a young doctor. I’m so grateful this small group of doctors was motivated to passionately work on a disease that won’t make them famous, but is so meaningful to us. The kindness they have shown to their patients and their families is amazing.”