사각지대에서 고통 받는다! 가정의 파탄, 빈곤화 등의 문제가 잇따르는 희귀질환으로 고통 받는 환자 (KBS 20120214 방송)

 A Family Tragedy Caused by a Rare Disease... What Happened Over the Past 10 Years? In 2002, a murder occurred in a home in Gwangju. The father, who also suffered from a rare disease, killed his son, who asked to be killed, saying he no longer wanted to live in pain. At the time, the media reported that the father and son suffered from Wilson's disease, a rare genetic disorder that had been passed down through generations. However, Professor Kim Hyun-joo of the Genetic Disease Center at Ajou University Hospital deemed this report genetically impossible. Wilson's disease cannot be passed down through generations. Professor Kim conducted genetic testing on the father, mother, and daughter, and the results revealed that both father and daughter suffered from spinocerebellar ataxia. Spinocerebellar ataxia is a rare, inherited disease that causes the cerebellum to shrink, resulting in motor dysfunction. This family consists of eight people across three generations. Ten years later, how are these eight people doing? The production team followed the family to find out.  Even if I have a rare disease, I can't receive medical support? The World Health Organization estimates there are approximately 7,000 rare and incurable diseases. However, only about 130 diseases are currently recognized as rare and incurable in Korea. Consequently, many patients, despite their rarity and difficult treatment, are unable to receive benefits such as medical expense support. The government, recognizing this problem, began a review of ultra-rare diseases, which are not even included in the Korean Standard Disease Classification, in 2007. Because ultra-rare diseases do not have separate disease codes, they are currently excluded from the rare disease support system. After three years of collecting patient complaints and conducting expert reviews, a total of 54 ultra-rare diseases were identified. However, the Ministry of Health and Welfare recently announced that it would not include these diseases in the special calculation. The production team covered the review and selection process for ultra-rare diseases, as well as the opposition from patient groups.  Untapped Laws and Policies Related to Rare Diseases Treatments for rare and incurable diseases are often expensive imported products. However, many drugs are not covered by insurance, placing a significant financial burden on patients. Therefore, in 2010, a portion of the Customs Act was revised to alleviate the burden on patients. This amendment designated products used by patients with rare and incurable diseases as exempt from tariffs. This allowed patients to save approximately 18% on medication costs, including tariffs and value-added tax. However, two years after the law's passage, no additional rare drugs have been exempted from tariffs. We investigated the situation with the Ministry of Health and Welfare and other sources. We also discovered that while a law related to rare and incurable diseases was proposed in the 18th National Assembly, it has not been properly discussed. ※ This video is from [Current Affairs Project Window - Rare and Incurable Diseases, We Want to Live Too], which aired on February 10, 2013. #Cebellar Ataxia #Behcet's Disease #Neuromyelitis Optica #Gaucher Disease #Ossification of the Posterior Longitudinal Ligament ✔ Documentary is from KBS | KBS Documentary Official Channel 📺 ✔ Subscribe to KBS Documentary ➡️ @kbsdocumentary The current situation and content may differ slightly depending on the broadcast time. Defamatory and malicious comments may be removed by the moderator to protect the cast.