Rare incurable disease

Rare incurable disease (희귀난치성질환/稀貴難治性疾患) is referred to a disease that affects a small percentage of the population, and seems incurable at present.

Most rare diseases are genetic, and thus are present throughout the patiet's entire life, even if symptoms do not immediately appear.

In the United States, the Rare Diseases Act of 2002 defines rare disease strictly according to prevalence, specifically "any disease or condition that affects less than 200,000 persons in the United States," or about 1 in 1,500 people. This definition is essentially like that of the Orphan Drug Act of 1983, a federal law that was written to encourage research into rare diseases and possible cures. In Japan, the legal definition of a rare disease is one that affects fewer than 50,000 patients in Japan, or about 1 in 2,500 people. The definitions used in the medical literature and by national health plans are similarly divided, with definitions ranging from 1/1,000 to 1/200,000.

Institutional support in Korea
Since July 2009, the government has provided the rare incurable patients with financial support by reducing the medical expenses by means of the national health insurance. It is to strengthen the safety net of the national health insurance system and to prevent disease-driven poverty of common people.

Once a rare incurable disease is diagnosed by a medical doctor, the patient is entitled for reduced coinsurance rate of medical expenses regardless of hospitalized or outpatient. The statutory coinsurance rate (법정 본인부담률) of the national health insurance is 5 percent for registered cancer patient, and 10 percent for the registered rare incurable patients.

How to register
The rare incurable diseases are requested to register with the National Health Insurance Service.

When the physician in charge of the patient with rare incurable disease has confirmed and put signature in the blank "Confirmed by the Hospital" (요양기관 확인란) of the "Registration Application for the Exempted Calculation of Health Insurance" (건강보험 산정특례 등록 신청서), the applicant is required to submit the application paper to any branch of the National Health Insurance Service (국민건강보험공단) in person, by facsimile or by mail. It is available at the hospital equipped with electronic data interchange (EDI). There is no registration card at all.

입원기간 중 확진 및 등록이 이루어진 경우에는, 입원초일부터 특례적용, 입원기간 중 확진이 이루어지고 퇴원 후 확진일로부터 30일 이내 등록한 경우에는, 확진일부터 특례적용, 입원기간 중 확진이 이루어졌으나 퇴원 후 확진일로부터 30일 경과하여 등록한 경우에는 등록일부터 특례 적용된다.

해당 산정특례 및 관련 합병증에 대한 진료는, 특례대상이나, 산정특례 대상과 전혀 관련 없는 타상병(기왕증 포함)의 진료는 해당되지 않는다. 다만, 동일과목(입원)·동일의사(외래)에게 해당 상병과 동시에 진료를 받은 경우에는 예외로 특례를 인정한다.

Self-help organizations

 * Korea Orphan Drug Center (희귀의약품센터 희귀/난치성질환 모임)
 * Angel Spoon (한국희귀·난치성질환연합회)
 * Wisteria Pixie Dust for Rare and Incurable Diseases on Facebook
 * Luisa (Lupus를 이기는 사람들의 협회)
 * Korea Hemophilia Foundation (한국혈우재단)
 * ALD (adrenoleukodystrophy) which became publicized by the film Lorenzo’s Oil 1992.