Mother's 'Reckless' Fight Secures Life-Saving Drug for Rare Genetic Disorder

A mother's unwavering determination has paved the way for a life-changing treatment for a rare genetic disorder, transforming her "reckless" pursuit into a successful campaign for healthcare access.

Park Soon-bae, representative of the XLH Patients' Association, is not an ordinary mother. Her daughter, who suffers from X-linked hypophosphatemia (XLH), is now able to walk again thanks to the treatment 'Crysvita' (burosumab). This breakthrough came after a lengthy six-year wait since the drug's approval in September 2020. On July 1, the drug passed the Health Insurance Review and Assessment Service's drug evaluation committee, making it accessible to adult patients through insurance coverage. While a 60-day negotiation period for the drug price with the National Health Insurance Service and the pharmaceutical company remains, it pales in comparison to the years of waiting.

Park's journey was one of immense personal sacrifice. To afford her daughter's treatment, which cost over 10 million won per month, she sold her home and gambled her entire fortune. She transformed from a homemaker into a "pizza shop owner," yet never missed accompanying her daughter to medical appointments in Seoul. She also became a "global mom," actively participating in online meetings with XLH patient groups worldwide.

Her advocacy began when she learned about Crysvita. Initially unaware of how to even send an email or join a Zoom meeting, she learned these skills through her daughter and with the help of Dr. Lee Yu-mi, her daughter's primary physician and a strong advocate for forming the patient group. Her sole focus was her daughter's treatment, which fueled her efforts.

XLH, a rare genetic disorder affecting approximately 1 in 20,000 people, causes growth abnormalities, short stature, and dental issues due to problems with phosphate reabsorption. While Park's daughter managed daily life through high school, by age 20, side effects from existing treatments led to severe bone pain, a hunched back, and an inability to walk independently.

"Mom, if I could just be pain-free for one day, that would be my dying wish," her daughter cried. This plea spurred Park's "reckless" actions. Learning that the new drug Crysvita, approved in 2020, was highly effective but prohibitively expensive due to lack of insurance coverage, she became determined to find a way. Despite knowing little about the National Assembly, she filed a petition in October 2022. Initially receiving only 10,000 signatures in 20 days, a surge of 40,000 more came in the final ten days, thanks to support from her church and local community networks. The petition, reaching 50,000 signatures, was referred to the National Assembly's Health and Welfare Committee, accelerating the drug's path to coverage.

Six months later, in May 2023, coverage was approved, but with an age limit for patients under 18. This excluded Park's 26-year-old daughter. Undeterred, Park sold her house to pay for the non-covered treatment, and her daughter, who had been bedridden, began to walk again.

Unable to stop her daughter's remarkable recovery, Park founded the XLH Patients' Association. Together with the Korea Rare Disease Patient Organizations' Federation, she submitted a petition to the National Human Rights Commission, arguing that the age restriction for Crysvita coverage was a violation of human rights and discrimination, demanding the guarantee of patients' rights to life, health, and equality. Park had transformed into a rights activist.

Even as her savings dwindled and debts mounted, Park's relentless pursuit continued. July 1, the day Crysvita passed the drug evaluation committee, was a miracle, extending her daughter's wish from "one pain-free day" to "a lifetime." The hope now is that the remaining 60-day price negotiation period will be shortened, allowing patients to access the treatment as soon as possible.