Born With Fused Fingers and an Abnormally Developing Skull — A Little Girl’s Journey to Count All Ten Fingers

When Catherine and Justin Arpey attended their 19-week pregnancy ultrasound, they expected another reassuring glimpse of their unborn daughter.

Instead, doctors noticed two concerning signs. Their baby was not opening her hands, and measurements of her developing skull were abnormal.

Further testing confirmed that their daughter, Isabelle, had Apert syndrome, a rare genetic condition affecting the development of the skull, face, hands and feet.

For her parents, the diagnosis marked the beginning of an emotional medical journey filled with uncertainty, complicated surgeries and unexpected milestones.

A Diagnosis Before She Was Even Born

Apert syndrome causes certain bones of the skull to fuse prematurely, potentially affecting the shape of the head and creating pressure-related medical concerns.

It can also cause syndactyly, a condition in which fingers or toes are joined together.

Isabelle was born with craniosynostosis, fused fingers and toes, and an additional foot condition called metatarsus adductus.

Her parents initially felt overwhelmed as they tried to understand what these differences would mean for their daughter’s future.

Multiple Surgeries During Her Early Childhood

Isabelle required several complicated operations to address her craniofacial condition.

These included two craniectomies and a frontal-orbital advancement procedure designed to expand her skull and reshape her forehead and upper eye sockets.

Although she received specialist care near the family’s home in Atlanta, another concern remained.

Her medical team was uncertain whether all her fingers, particularly the middle and ring fingers, could be fully separated.

Her parents wanted to explore every reasonable option to help Isabelle develop functional hands.

Another Family Leads Them to Boston

Through a connection with another family affected by Apert syndrome, Catherine and Justin learned about plastic surgeon Dr. Brian Labow at Boston Children’s Hospital.

They contacted the hospital in April 2023 and quickly arranged a consultation.

The meeting gave them renewed confidence. Dr. Labow believed that reconstructive surgery could help Isabelle achieve ten separate fingers.

Working alongside Dr. Amir Taghinia, he developed a staged surgical plan to release the fused digits.

The Moment She Could Count Ten Fingers

Isabelle underwent her first finger-separation procedure approximately one month after the initial consultation.

Additional operations followed, with the final release surgery taking place in May 2024.

As her hands healed, her family began noticing changes that meant far more than the appearance of her fingers.

Isabelle could use her hands in new ways.

She proudly showed people her fingers and began counting all ten, touching them individually as she went.

For her parents, watching her explore everyday activities with greater independence was an extraordinary milestone.

A Little Girl Her Family Calls Sunshine

When Catherine and Justin shared their daughter’s story in July 2024, Isabelle was approaching her third birthday.

She enjoyed playing outdoors, climbing playground ladders, spending time with her older brother and threading beads using her newly separated fingers.

Her parents decided to speak publicly about their experience to support other families receiving an unexpected prenatal diagnosis.

They wanted people to understand that Apert syndrome presents complex medical challenges, but children living with the condition also have their own personalities, interests and potential.

For Isabelle, whom her family affectionately calls Sunshine, the ability to count ten fingers became one meaningful milestone in a much larger childhood journey.

Source: Boston Children’s Hospital, July 16, 2024. Catherine and Justin Arpey, “No Labels or Limits With Apert Syndrome: A Letter to Parents.”