According to a story from Korea Biomedical Review, two Korean drama television shows, Partners for Justice Season 2 and Doctor John have recently depicted Fabry disease as key components during their run, which has served to raise awareness about the illness in South Korea. It is not common for rare diseases to be depicted in media, but when they are, it often exposes audiences to these diseases for the very first time.
About Fabry Disease
Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients, and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.
Fabry Disease Hits The Small Screen
In Doctor John, the main character Cha Yo-han successfully diagnoses a convict with Fabry disease and is then able to save his life with proper treatment. Meanwhile, in Partners for Justice Season 2, protagonist Baek Beom finds medication for the illness at the home of murderer Jang Cheol, allowing him to determine that he must have the rare disease.
There are three treatments approved in South Korea for Fabry disease. These include Fabrazyme and Repragal (both administered intravenously); Galafold was more recently approved and is the only orally available therapy for the illness available.
While the appearance of Fabry disease in this programs will help raise awareness of the illness, patients in the country may still experience challenges such as diagnostic delays. Its symptoms can easily be confused with other kidney diseases. The Fabry Society, which is part of the Korean Society for Nephrology, is the most active organization in the country that is working to improve detection and treatment of the illness in South Korea.