Osteogenesis imperfecta, also known as brittle bone disease or "glass bone," is a rare genetic disorder that affects the development of bones. It occurs in approximately 1 in 10,000 to 15,000 people worldwide, with an estimated 100,000 to 200,000 individuals affected in China. This condition makes bones extremely fragile, leading to frequent fractures from minimal trauma.
Six-year-old Xiaofeng from Guizhou was born with this condition, making his bones as delicate as porcelain. Even simple movements could cause fractures, and by the time he was six, his legs had broken more than twenty times. The repeated fractures caused his legs to twist into a cross-shaped deformity, making it impossible for him to stand. He spent most of his time sitting on the sofa, watching cartoons or climbing with his hands. His condition worsened over time, and by age five, his legs had become so deformed that he could no longer stand upright.
After years of unsuccessful treatments in Chongqing and Zhejiang, Xiaofeng's parents turned to the Porcelain Dolls Rare Care Center, a charity focused on osteogenesis imperfecta. The organization helped connect them with the Department of Pediatric Orthopedics at Shenzhen University Hospital in Hong Kong, where a groundbreaking solution was found.
The hospital’s orthopedic team used 3D printing technology to create a precise 1:1 model of Xiaofeng’s lower limbs. This allowed surgeons to plan the operation in detail before performing a complex surgery in June. Using minimally invasive techniques, they performed an osteotomy—cutting and realigning the bones—and inserted four retractable "intramedullary nails" to stabilize the legs. These special nails can extend as the child grows, eliminating the need for multiple surgeries later in life.
One month after the operation, Xiaofeng began physical therapy. He was able to stand with support, and although the exercises were painful, he showed incredible determination. His progress was slow but steady, and doctors believe he will eventually be able to walk independently. However, the condition cannot be cured, and Xiaofeng will still need regular medical care, including bisphosphonate injections to strengthen his bones.
While the surgery was a success, the financial burden remained a challenge for Xiaofeng’s family. The hospital charges were manageable, but for a family in a remote mountainous area, it was still a heavy cost. To help children like Xiaofeng, the hospital is working with various NGOs and businesses to establish a charity fund for rare diseases like osteogenesis imperfecta.
This case marks a significant breakthrough in treating severe skeletal deformities, offering hope to many families facing similar challenges. With continued advancements in medical technology, more children with "glass bones" may one day walk freely, just like any other child.
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