The Parmann Family Becomes the 100th to visit BCH Kleefstra Clinic

When the Parmann family made their way from sunny San Diego to Boston, they weren’t just chasing answers—they were seeking connection and to share some information of their own. Their daughter, Cecilia, a spirited 11-year-old with Kleefstra syndrome (KS), became the 100th patient at the Kleefstra Syndrome Clinic at Boston Children’s Hospital (BCH).

Cecilia, known for her spunky personality and fearless love of life, has faced countless medical challenges. From a young age, she endured long hospital stays, developed a complex set of diagnoses including seizures, profound developmental delays, GI dysmotility, and is fully reliant on a G-tube. Despite these challenges, Cecilia is an adventurer— enjoying surfing, horseback riding, flying through airplane turbulence, and even petting grey whales off the coast of Baja.

But as her parents, Lesley and Bryan, know too well, life with KS isn’t just about managing symptoms—it’s about piecing together a mosaic of care, information, and hope. For Lesley, traveling to the KS Clinic meant finally stepping out of the role of “medical translator” and walking into a room where Kleefstra didn’t need an introduction.

“It’s exhausting being the one who always has to explain KS,” Lesley shared. “At BCH, they already knew. We didn’t start from square one. We got to isolate what is and isn’t KS, and for the first time, we were asked, ‘Would you like to explore more testing?’ That kind of openness was both startling and empowering.”

The clinic experience brought more than just expertise. It brought warmth. From Hailey, who helped manage Cecilia’s expansive medical records (and even gave tips for Boston weather), to Dr. Sid and Zoe, who patiently walked the family through testing and results. Cecilia also met with Dr. Katz, a pediatric neuropsychiatrist willing to work with non-verbal children, a rare and welcome find.

Cecilia’s journey is one of joy, pain, resilience, and now, reflection. In recent years, she’s faced regression—losing skills, enduring more seizures, increased pain, and discussions around palliative care and hospice. Despite this, the Parmanns remain committed to giving her a full, rich life. She continues school, recently completed her 10th NAPA intensive therapy in Los Angeles, and still travels widely with her family, creating memories wherever she goes.

“Each of our kids holds knowledge within their lived experience,” Lesley says. “This can’t be purchased, fabricated, or understood in isolation. The KS Clinic is more than just a place—it’s a collaboration, a step toward turning ‘you know one person with KS’ into something more actionable. I wanted Cecilia to share her knowledge of KS with the group at large, and this was the place to start.”

As the 100th family at the Kleefstra Clinic, IDefine CEO Geoff Rhyne says the Parmanns represent an important milestone.

“This isn’t just a number. It’s 100 families getting answers, support and specialized care for Kleefstra syndrome at one of the only clinics in the world focused solely on this rare condition,” said Rhyne. “This incredible milestone wouldn’t be possible without the strength of our community and the power of partnership. Here’s to continued progress through research, collaboration, and compassion.”