Age limits on rare disease treatments like hypophosphatasia must be removed quickly

A memorandum of understanding (MOU) signed between the Korea Hypophosphatasia Patient Association and the Korean Endocrine Society's Rare Disease Research Association aims to enhance the diagnostic and treatment environment for hypophosphatasia (HPP) patients and foster research collaboration.

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As we celebrate this year’s Menstrual Hygiene Day, I stand before you not just as a mother, a woman or the wife of the Governor of Anambra State, but as an advocate for dignity, health, confidence and the future of our children, especially girls.

HPP is a rare genetic disorder characterized by reduced levels of an enzyme essential for bone formation and metabolism, leading to bone regeneration and mineralization issues. While the exact number of adult patients in South Korea is estimated at around 10, and including children at about 70, the association stresses that the collective suffering of individuals with rare diseases is significant. The initiative aligns with the government's push for a national rare and intractable disease responsibility system.

Kim Hyun-joo, the 50-year-old representative of the HPP patient association, shared her personal journey. Diagnosed with HPP after a traffic accident led to persistent pain following a tailbone fracture, she learned that her frequent childhood fractures and bone issues were symptoms of the condition. The diagnosis also revealed that HPP is hereditary, a fact she confirmed when her daughter tested positive for the gene mutation. Despite the emotional toll, Kim chose not to have her elderly parents tested, fearing the guilt it might cause them.

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Menstruation is a natural part of life. It is not a curse. It is not a taboo. It is not something any girl should be ashamed of. Yet, across many communities, countless girls still suffer in silence because of stigma, poor hygiene education, lack of sanitary materials and harmful cultural and social misconceptions.

Kim's experience underscores the critical lack of information surrounding HPP. Even major hospitals struggled to provide details about the disease, prompting her to establish the patient association and join the Korea Rare and Intractable Disease Association. She is now urgently advocating for improved treatment accessibility, especially as her daughter, currently a high school senior, will soon face age-related restrictions on HPP medication. While HPP has a treatment, its coverage is stringent, and age limits prevent many adult patients, like Kim herself, from accessing it, despite the condition persisting into adulthood. The article calls for swift removal of these age restrictions for adult patients.

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We must replace shame with understanding, silence with education, and exclusion with compassion and support. Every girl deserves to experience her womanhood with dignity, confidence and pride, not fear or humiliation. This is why conversations like this are important.