[Column] The Role of Health Insurance for 0.1% of Rare Disease Patients

'0.1%'.

This is the proportion of people diagnosed with rare diseases relative to the total domestic population in 2020. Many of them suffer greatly from unexplained symptoms, but it takes a long time to receive an accurate diagnosis. Misdiagnoses also occur. Korea lacks sufficient information and diagnostic systems for rare diseases.

Some diseases can be lived with despite delayed diagnosis, but others are difficult to survive beyond a year or two. Spinal Muscular Atrophy (SMA) is a congenital rare disease in which even the internal muscles gradually weaken, eventually making movement and breathing difficult. Type 1 progresses the fastest. Infants with Type 1 must be diagnosed within 4 months of birth and receive treatment within 12 months. However, diagnosis is structurally difficult. Parents must notice that their baby’s cry is quieter than peers and that limb movements are slower when lying down to seek medical attention. Once at the hospital, they must find a doctor knowledgeable about the disease the baby is suffering from. During this process, medical staff sometimes say, "I don’t know," or "Go to a larger hospital," refusing to provide treatment. Rare disease patients and their families whom the reporter met appeal that "rare diseases with accurate diagnoses and available treatments should be included in the national newborn screening supported by health insurance."

Even after diagnosis, it must be checked whether treatments exist, whether they are covered by insurance, and whether the disease codes for rare diseases are registered. The treatment process is as arduous as the suffering from the disease itself. Health insurance is a universal welfare benefit that all citizens enjoy. Financial soundness has also become important. It is difficult to argue that all rare disease patients should receive health insurance benefits. However, efforts are needed to listen more to the voices of minorities and find policy alternatives to eliminate blind spots in health insurance coverage.

Reporter Seonjin Byeon, Biohealth Department