No labels or limits with Apert syndrome: A letter to parents

Dear parents,

If you’re reading this, your child might have been recently diagnosed with Apert syndrome and you don’t know what comes next with this rare genetic disorder that causes fusion of your child’s skull, hands, and foot bones. Or maybe you’ve been in the Apert world for a while and are looking for people who understand the journey your family is on. We are those people.

Our daughter, Isabelle, has Apert syndrome, and as we approach her third birthday, we’re sharing our story to let other families know they’re not alone. There is so much help and support available, and there are no limits for children with this condition.

A leap of faith and acceptance

We first learned Isabelle had Apert syndrome during our 19-week prenatal ultrasound. She wasn’t opening her hands, and her cranial circumference wasn’t measuring correctly, so we were referred to a maternal-fetal medicine specialist and received extensive testing that confirmed Apert syndrome.

Very quickly, we found ourselves walking a path less traveled and felt isolated and overwhelmed. Diagnosis to birth was an emotional journey: we were anxious and grappled with understanding what to expect because Apert syndrome is so rare. But we chose to lean heavily into our faith and trust that there is a greater plan for Isabelle’s life, far beyond what meets the eye. We accepted our new path and developed a sense of peace. We were eager to meet our little girl, but still, we kept our experience mostly to ourselves, not yet ready to open up to the outside world.

Accept no limits

Isabelle was born with craniosynostosis, syndactyly in her hands and toes, and metatarsus adductus. She has needed several complicated surgeries, including two craniectomies and a frontal-orbital advancement (FOA) to expand her skull and reshape her forehead and the upper part of her eye sockets. While we’re so grateful for the exceptional care Isabelle has received near our home in Atlanta, we decided it was time to reach out to the broader Apert community when our care team expressed concern about being able to fully separate her middle and ring fingers; our hope was that another family had conquered the same obstacle. A family member of a mutual friend introduced us to Kellie, who brings her son, Sonny, to Dr. Brian Labow at the Cleft and Craniofacial Center at Boston Children’s Hospital. When we reached out to Kellie, she urged us to consult Dr. Labow about separating Isabelle’s fingers and we’ll be forever grateful that she did. This connection put us on the path of great hope for Isabelle’s hands. Within days of contacting the Cleft and Craniofacial Center in April 2023, we had an appointment.

We’ll never forget our initial consult with Dr. Labow because it almost moved us to tears. He told us how beautiful Isabelle is and that we should not put limits on her.

“You will be the one to hold her back if you do,” he said. “She will amaze you in all she is capable of.”

His words married so well into our mantra of no labels, no limits, and captured how much Isabelle had already amazed us by defying many expectations, including not having breathing or feeding challenges that can be common with Apert syndrome.

Dr. Labow assured us that Isabelle could absolutely have ten fingers. His confidence was palpable, and it inspired increased confidence in us. We knew instantly he was the right surgeon for Isabelle.

A month later, Dr. Labow and his colleague Dr. Amir Taghinia performed Isabelle’s first syndactyly release surgery, part of a phased approach to separating all her fingers. She underwent her final release surgery in May of this year.

Since the day we met them, we’ve been in awe of not only Dr. Labow’s and Dr. Taghinia’s ability to provide Isabelle with functional hands and fingers, but also the level of focus and attention to detail they apply to the symmetry, length, and overall beauty of her hands and fingers — even her fingernails. Most importantly, we appreciate how they see Isabelle as more than just a patient; they see the girl who loves playing outside and going to church, and who loves her older brother, her family, and being social.

A light ahead

The effect Isabelle has on people is remarkable to witness, and so is watching her grow and explore the world — whether it be climbing ladders at the playground or threading beads with her 10 nimble new fingers, both adults and kids are amazed by her beautiful fingers and their functionality — she can do just about everything other kids her age can.

While we were initially hesitant to enter the Apert community out of fear and uncertainty, opening ourselves up to others brought us hope, peace, and the connection that led us to Dr. Labow, Dr. Taghinia, and Boston Children’s, so we are forever thankful. Isabelle’s journey has been an inspiration not only to us but to friends, family, and our community. That’s why we want to offer a beacon of hope to others facing Apert syndrome or any prenatal diagnosis. We want to let you know that you are not alone and there is a light in what can feel like darkness; Isabelle is that light for us, it’s no coincidence that her nickname is “Sunshine.”

With love and solidarity,
Catherine and Justin

Learn more about the Craniofacial Program and the Department of Plastic and Oral Surgery at Boston Children’s Hospital.