A Story of Hope: Meet Emiliano

Each year, Shriners Children’s Philadelphia staff treats thousands of children from all over the world for rare diseases and conditions.

Emiliano is 16 years old and lives in Guatemala with his family. One year ago, he injured his hand while practicing karate. After initial evaluations and X-rays, he was treated for a simple fracture and was sent home to heal.

Shortly after, while playing a game of basketball, Emiliano injured his hand again. After another round of X-rays, his doctor noticed that his bone was extremely thin, and he was sent for further testing. Once completed, Emiliano was diagnosed with Gorham-Stout disease, a rare condition that causes weakening of the skeletal bones.

Gorham-Stout disease can affect any bone, but for Emiliano his right dominant hand was affected. When his mom saw that he was struggling to perform daily tasks such as writing and playing guitar and piano, she knew that action needed to be taken.

Alejandra, Emiliano's mom, began online research, looking for the best care for her son's new condition. After much research, they were referred to Shriners Children’s Philadelphia.

Emiliano's first visit was a telehealth visit with our upper extremities team. Shortly after that first virtual appointment, Emiliano and his family arrived in Philadelphia for surgery, which is one of the few treatment options for Gorham-Stout disease.

In January 2025, Emiliano had vascularized bone graft transfer surgery, a procedure where vascularized bone was taken from the arteries and veins that provide blood supply to the leg, and were transferred with the bone and reconnected in the hand and wrist. His mom remembers that after a few days post-surgery, Emiliano was able to move his finger with minimal pain. After a brief inpatient stay, he returned home and to school and will follow up with Scott Kozin, M.D., and Eugene Park, M.D., for routine checkups.