Born Without Thumbs and With Both Wrists Bent at 90 Degrees, This Little Girl Faced a Rare Genetic Diagnosis

After struggling to conceive and experiencing several unsuccessful rounds of IVF, Valerie and her husband, Brian, were overjoyed to learn they were expecting their first child.

But their excitement turned to uncertainty during a routine pregnancy examination.

At their 20-week ultrasound, doctors identified abnormalities that required further investigation. Genetic testing eventually revealed that their unborn daughter, Emery, had Holt-Oram syndrome, a rare genetic disorder affecting the development of the upper limbs and heart.

Her parents knew their baby would need specialized medical care. What they could not yet know was how extensive her physical differences would be at birth.

A Rare Diagnosis Before Birth

Holt-Oram syndrome is estimated to affect approximately one in 100,000 people.

The condition can cause abnormalities involving the hands, wrists and forearms, sometimes accompanied by congenital heart defects.

For Valerie and Brian, receiving the diagnosis was frightening, particularly after the long fertility journey they had already experienced.

Nevertheless, they remained determined to find the best available care for their daughter.

Born Without Thumbs and With Two Heart Defects

When Emery was born, doctors immediately observed the visible differences in her arms and hands.

She had no thumbs, the radial bone in each forearm was shortened, and both wrists turned inward at approximately 90 degrees.

Doctors also discovered two holes in her heart.

Her parents now faced the challenge of understanding how these conditions might affect her development and which medical interventions could help improve her daily functioning.

Her Parents Sought a Second Opinion

Before Emery’s first birthday, Valerie and Brian met with a surgical team to discuss treatment options.

However, they left the appointment feeling uncomfortable with the proposed plan.

Determined to explore other possibilities, they sought a second opinion.

A friend recommended Shriners Children’s Northern California, where Emery was evaluated by pediatric orthopedic hand surgeon Dr. Claire Manske.

The specialist assessed her hand function and discussed a treatment approach focused on helping Emery become as independent as possible.

Surgeons Began Rebuilding Her Hand Function

Dr. Manske performed procedures to improve the alignment of Emery’s wrists, bringing them into a straighter position relative to her forearms.

Emery also underwent an operation on her left hand in which her index finger was shortened and repositioned to function like a thumb.

This procedure, known as pollicization, can help children born without thumbs develop a more functional grasp.

When the hospital published Emery’s story in May 2022, a corresponding procedure on her right hand was planned.

Her medical team emphasized that the goal was to improve both function and appearance while supporting her development over time.

A Little Girl Who Loves Singing and Dancing

Despite the surgeries and medical appointments, Emery continued enjoying her childhood.

By the time her story was published, she was attending preschool, singing, dancing and playing outdoors.

Her parents were grateful to have found specialists who listened to their concerns and helped them understand the options available.

Additional treatment was anticipated as Emery grew, but her care team remained focused on helping her use her hands to accomplish the everyday activities she wanted to do.

For Valerie and Brian, their daughter’s journey had begun long before her birth, with years of hoping to become parents.

Now, their attention was on supporting Emery as she discovered what she could do, one milestone at a time.

Source: Shriners Children’s Northern California, May 18, 2022 — Emery’s Orthopedics Team Focuses on Giving Her a Future of Function.