The maturation of a system for rare diseases
Newly founded non-governmental organizations often have a long learning curve. In its first five years, the TFRD laid the groundwork for the future by organizing a number of international conferences. They invited international rare disease experts to Taiwan to help fill in some of the gaps in local knowledge about things like treatment, care, prevention, and postnatal screening.
Taiwan has over the years gone from basic learning to having a mature system. Over the past decade the TFRD has helped create a national structure for dealing with rare disorders and a systematic approach to their treatment and the care of patients. The structure includes the passage of the RDODA, bringing rare diseases within the scope of social welfare protections, winning the creation of a special fund for relevant medications, inclusion of these disorders on the National Health Insurance list of “major illnesses,” and the broadening and deepening of care and services for patients.
Because of the rarity of these disorders, and the fact they are often difficult to diagnose, the TFRD and National Taiwan University Hospital have established a database on rare hereditary diseases. So far the database has gathered together detailed information on 200 conditions, and the data is open and accessible to anyone who can read Chinese.
On average, it takes more than three years for sufferers from rare diseases to be correctly diagnosed, and there are often misdiagnoses along the way. To help out with this problem, the TFRD assists patients to go overseas for genetic testing.
Unlike commonly seen diseases, rare illnesses can’t just be cured with some routine treatment. Usually, when hospitalized, these patients get very intensive care, while the rest of the time they are usually cared for by family members. Therefore the TFRD not only is concerned with the patient (who is of course the core concern), but also with support for the family. They offer a variety of innovative courses and activities which are unique to Taiwan, earning considerable attention from interested observers.
The TFRD focuses on giving breathing room to patients and families for the 95% of rare diseases for which there is no pro-active treatment. This is the aspect of TFRD activities that has drawn the most praise and attention.
Five-year-old Haohao has a rare disease that makes excessive protein intake dangerous. His parents carefully watch his diet to make sure he grows up healthy.