From Bolivia to Philadelphia: Samir’s Story

Samir, a patient at Shriners Children’s Philadelphia, is originally from Santa Cruz, Bolivia, and lives with skeletal dysplasia – specifically, campomelic dysplasia.

Skeletal dysplasias are typically genetic conditions caused by mutations in specific genes that disrupt normal growth. They may be diagnosed by ultrasound during pregnancy or may not become apparent until the child begins to grow.

After three surgeries were performed on his feet in Bolivia, Samir still struggled to walk and sought further help at Shriners Children’s Philadelphia. Samir said, “I want to improve my gait and walk like normal. I’ve always dreamed of better surgery and a better hospital.” Samir and his family learned about Shriners Children’s Philadelphia through a TV ad in Bolivia. Samir was selected to travel to Philadelphia to receive treatment at our hospital.

Samir’s first surgery at Shriners Children’s was to decompress his neck at the C2–C4 vertebrae. He received halo traction to assist with the decompression, and it was extremely successful. He now experiences significantly less pain when walking than he did before the surgery. Prior to the procedure, he could only walk short distances and needed to hold onto someone’s arm for balance.

He recently underwent a second procedure to realign and decompress his thoracic and lumbar spine. His orthopedic surgeon is Terrence Ishmael, M.D., who said, “Samir has a complex set of problems. He has campomelic dysplasia, which is a form of skeletal dysplasia. He was initially referred to us at Shriners Children’s Philadelphia for difficulty walking, which was initially thought to be as a result of issues with his hips and feet. After further review, we discovered that his spine was affected as well and was likely to be the main cause of his difficulty with walking. We performed a multi-stage decompression and realignment of his cervical, thoracic and lumbar spine. Throughout the entire process Samir has remained positive and has worked really hard with the rehabilitation team and nursing staff. He has been amazing, and I am optimistic that his attitude and determination will pay off in the long run.”

Samir’s mother, Sofia, said, “As a mom, it’s great to see him improve. He no longer cries in pain, and he can sleep well.” Samir also attends physical therapy (PT) sessions with Nikki, PT, DPT, PCS. In PT, Samir practices walking, balancing and gaining arm strength and endurance. In terms of Samir’s quality of care, he said, “It has been very good! The care at Shriners Children’s Philadelphia is excellent, better than any other hospital I’ve been to.”

Sofia said, “We are thankful for the attention and care he had in surgeries, it’s been a great opportunity, and his quality of life has improved greatly. Coming to Shriners Children’s is a dream come true!”

In Samir’s free time, he enjoys playing video games and singing. When Samir returns home to Bolivia, he plans to spend time with his family and, hopefully, return to college at Universidad del Valle next year. He is studying to be a scientist for pharmaceuticals. Shriners Children’s Philadelphia staff is proud of how far Samir has come in just a few months, and we look forward to seeing all he will accomplish in the future.