Late Samsung chair's foundation eases financial burden for patients with rare bone growth disorder

“Doctor, is it O.K. for me to walk around now?” Seo Jae-young asked during a follow-up appointment at Seoul National University Children’s Hospital on Thursday, a month after external fixators used to lengthen his thighbones were removed.

“You can walk around as long as you’re careful and don’t fall and fracture a bone,” Song Mi-hyun, a professor of pediatric orthopedics, replied. She then asked Seo to try walking across the examination room.

His body swayed slightly from side to side with each step, but he completed the task. Song explained that his muscles had weakened during treatment, resulting in his unsteadiness, and advised him to continue his strength training.

Seo was diagnosed with achondroplasia, a rare disorder in which a mutation in the FGFR3 gene restricts bone growth, soon after birth and began growth hormone therapy at 27 months old. Though he continued the treatment for more than a decade, he was 137 centimeters (4 feet, 6 inches) tall by the time that he was 15.

He underwent surgery to lengthen both thighbones in late February, right before entering high school. Surgeons cut the femurs and used external fixators attached outside the body to gradually separate the bones by 1 millimeter (0.04 inches) per day, allowing new bone to form in between.

Intramedullary nails — metal rods inserted into the hollow centers of bones — were used as support. This method reduces the time that patients must wear external fixators compared to using the devices alone.

Doctors will check his progress again in three months. After he takes the College Scholastic Ability Test, which students take in their third year of high school, they plan to correct the curvature in his lower legs and may consider another operation to lengthen his shinbones if necessary.

According to Seo, what troubled him the most while growing up was the way that others looked at him.

“Because I was short for my age, people stared at me wherever I went, which hurt, and I was even self-conscious around my friends,” he said. “I was told about the pain and possible side effects [of the surgery], but I was the one who strongly pushed for the operation.”

Though his parents worked and saved money for more than 10 years, the cost of the procedure and rehabilitation remained beyond their means until Seo joined Seoul National University Hospital’s clinical study on femoral lengthening surgery for patients with achondroplasia, funded through a donation from the family of the late Samsung Chairman Lee Kun-hee.

The study analyzes the outcomes of femoral lengthening procedures in patients with FGFR3-related skeletal dysplasia to help guide future treatment. Participants receive partial financial support for surgery on both thighbones and are monitored for about two years, which includes the bone-lengthening period.

Beyond the operation, rehab was far from easy. Seo had to turn levers on the external fixators multiple times each day and disinfect the areas where metal pins passed through his skin.

“Walking with the external fixators hurt as if someone were pinching and tearing off my flesh,” he said.

But Prof. Song encouraged him to live his life like usual, and Seo returned to school on crutches one week after surgery.

His thighbones lengthened by about 10 centimeters over four months. The external fixators were removed in June, when Seo measured 147 centimeters tall. His mother called the period between the surgery and the removal of the devices “100 days of miracles.”

“I knew that [the treatment] was something that we would eventually have to do, but the financial burden was overwhelming,” she said. “He was able to have the surgery thanks to support from the Lee Kun-hee Foundation, and the results are so good that they’re almost unbelievable. I’m extremely grateful.”

The surgery also transformed Seo’s everyday life.

“Life has become much easier, and I was happy that my friends had noticed that I’d grown taller,” he said.

Prof. Song stressed that limb-lengthening surgery is not necessary for every patient with achondroplasia. Doctors must consider a patient’s stage of growth, the severity of any deformities, their functional needs and whether the patient personally wants to endure the lengthy course of treatment.

“Being short does not mean that other physical functions are impaired, so surgery is not always necessary,” she said. “But a man who is 169 centimeters tall asking to become 178 centimeters tall is different from telling a 137-centimeter-tall boy that he must live that way for the rest of his life. We should provide appropriate treatment opportunities to patients who desperately want them and have undergone a medical evaluation.”

The experience inspired Seo to pursue a new dream: studying social welfare to one day help children and teenagers with rare and incurable diseases in hospitals.

“Just as the Lee Kun-hee Foundation opened up a future for me, I want to become someone who contributes to society,” he said.

Song added that she hopes the experience will shape Seo’s future beyond his recovery.

“I hope that [he] grows into a wonderful adult who gives back the help that he received to society,” she said.

BY RHEE ESTHER [[email protected]]