Elly is a toddler who loves to climb – at home, at the playground and everywhere she goes. She even talks about climbing mountains. Using her hands to grasp and pull herself up, however, hasn’t always been easy. “I will never forget how everyone in the room suddenly got quiet when she was born and the obstetrician said, ‘The child has no thumbs,’” says Lee, Elly’s father. “I was overwhelmed.” 

Elly’s condition is a congenital difference called bilateral thumb hypoplasia. Experts at Children's National Rare Disease Institute offered help, information and hope. That it occurred on both sides of her body indicated the condition might be the result of a genetic syndrome which might also cause major health concerns. These could include rapid organ or bone marrow failure. 

Christina Grant, M.D., Ph.D., a medical geneticist and her team began a series of testing to identify potential underlying conditions. "My biggest concern was making sure that Elly didn't have a scary genetic condition,” Dr. Grant says. “Finding a reason for the difference could also give us an idea of recurrence risk both for Elly’s parents and for Elly in future if she has her own children.” 

The team first checked genes likely related to hypoplasia, then moved on to more comprehensive testing. Elly was negative for known genetic disorders, but the question remained: what caused the defect and did any related concerns exist? Dr. Grant suggested Elly take part in an ongoing clinical trial at Children's Pediatric Mendelian Genomics Research Center. Investigators would study her entire genome, a level of examination possible only through research.   

The genetics team also referred Elly’s family to the Plastic and Reconstructive Surgery Team at the hospital’s main campus, and primary care at a Children’s National location within walking distance of their home. “The coordinated care made us feel so much more confident,” says Kourtney, Elly’s mom. “Everyone shared information. Everyone cared about us."  

Gary Rogers, M.D., M.B.A, M.P.H., division chief of Plastic and Reconstructive Surgery explained the benefits of pollicization surgery. The complex operation would transplant Elly’s index fingers to become her thumbs. This would dramatically increase her hands’ mobility. 

When Elly was 18-months old, Dr. Rogers and Joseph Letzelter III, M.D., an orthopaedic surgeon, performed the 6-hour operation. "They worked on one hand together and then the other,” Kourtney says. “They were a confident, compassionate team.” 

Elly went home the next day in matching blue casts. Soon she was scaling playground equipment again. “She can do anything; she can pick up anything,” Lee says. “And as a future mountain climber, she very much needs her thumbs.” 

A young patient at Children's National Hospital.

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A young patient at Children's National Hospital.