What is a Rare Disease?
Briefly speaking, rare diseases suggest diseases with low prevalence. Well-known rare diseases include: Spinocerebellar Ataxia, Phenylketonuria, Mucopolysaccharidoses, Osteogenesis Imperfecta (Glass Dolls), Thalessemia and so forth. The number of patients with these rare diseases ranges from hundreds to thousands.
Moreover, there have been only several cases of certain rare diseases in the world. Most rare diseases are results of genetic defects, and are often described as congenital diseases.
Genetic defects are sometimes caused by sporadic mutation or by inheritance. However, causes of certain rare diseases still remain unknown. The possibility for this kind of serious health risk at birth is present in all pregnancies. The rate of babies born with the effects of a genetic disease or damage due to complications is around 3-5%. This figure, though seemingly a small consideration, is a real risk that affects millions of births each year. There are about 25,000 genes in human body and each one of us carries around 5 to 10 defective genes.
If both parents carry the same defective gene, the risks are much higher that their baby will inherit an active, dominant form of the disease and show the physical effects. The prospective parents could seek out medical counseling to discuss their family histories, their current genetic makeup, and their risks for passing on negative genetic effects. It is also important for the parents to be aware of the lifestyles and environment that they live in which could adversely effect their own health as well as increasing the risks for genetic defects in their children.
What is an Orphan Drug?
Rare diseases are not always diseases with no medication.
In some cases, if diagnosed and treated at early stage, patients may avoid serious results such as mental and growth retardation and physical disability. However, due to the high cost of developing medical treatment and special nutrients and a small market with so few patients, pharmaceutical industry is not willing to develop, produce or import those products. Therefore, those medical treatment and nutrients are called Orphan Drugs.
TFRD introduced the first enzyme replacement therapy for Gaucher Disease patients in September 1998. After that, the government announced 10 kinds of orphan drugs on June 17, 1999. And now, there are 122 kinds of orphan drugs in Taiwan.
Rare Disease in Taiwan
Due to the low affliction rate and the small number of people who suffer from rare diseases, those who are affected are marginalized in society. They encounter obstacles in receiving diagnosis, treatment and education, as well as in finding employment and care.
Conventional prejudices and the lack of information about genetic diseases have contributed to the general belief that genetic disease is tremendously shameful or a form of punishment for wrongful deeds committed in a past life. These ideas have discouraged many from confronting the reality of their illnesses or from seeking medical help, and has in turn led to endless tragedies. It is our firm belief that only through legislation, can we protect those who are weak and desperately in need of help.
Rare disease, as its name suggests, are those diseases with very low prevalence and affects only a small number of people. Rare diseases are classified differently in each country. For example, in the U.S. it is considered a rare disease if it affects less than 200,000 people(prevalent in less than 7.5/10,000). In Japan, if the number of patients total less than 50,000 (prevalent in less than 5/10,000). In Taiwan, according to the Rare Disease and Orphan Drugs Committee, the standard for rare diseases is if it’s prevalent in less than 1/10,000.
In 2024, the government has categorized 244 diseases as officially proclaimed rare diseases. TFRD has been serving patients with 284 rare diseases affecting more than 19,000 families. So far 140 orphan drugs and 50 special nutrients(formula) have been approved by the government for treating patients.
Characteristics of Rare Disorders in Taiwan
1) The world's first such law with rare disease prevention and subsidy scheme of orphan drug research and development.
2) Physicians need to register patients to the HPA platform when treating patients with rare disease.
3) Orphan drug licenses will have ten years validity period.
4) Unlicensed medicines can be imported by named-patient program.
5) Subsidy for international rare disease examination service.
6) The Review Committee shall be consulted in the process of examining an application for listing an orphan drug in the NHI Pharmaceutical Benefits and Reimbursement Schedule.
7) Subsidy for medical costs which NHI failed to pay for diagnosis, treatment, medicines and special nutritional foods essential for the maintenance of life.
8) Subsidy for domestic diagnostic testing, rental of household medical facilities, treatment, and drugs.