Each country has its own definition of “rarity” when it comes to illnesses. Taiwan has set out a clear definition in the Rare Disease and Orphan Drug Act: a disease that has a prevalence below one in 10,000 people, is genetic in origin, or has high difficulty of diagnosis and treatment.

Rare diseases are difficult to diagnose. The TFRD promotes screening for newborns, hoping that early discovery will lead to early treatment.

Families help each other

“Rare diseases” is a broad term that covers nearly 7000 different conditions. In Taiwan, the Ministry of Health and Welfare has thus far recognized 215 illnesses in this category under the RDODA, including some you may have heard of, such as motor neuron disease, osteogenesis imperfecta, mucopolysaccharidoses, spino­cerebellar atrophy, and thalassemia major. Some of these diseases have patients numbering in the hundreds or even over 1000 worldwide, while others number only a handful of cases even on a global level.

There are about 6000 people in Taiwan who suffer from rare diseases. There is no way to know ahead of time the causes of these diseases, and there is little understanding among the general public of their treatment.

Tseng Min-­chieh and Serena C. Wu, the two people who founded the Taiwan Foundation for Rare Disorders (TFRD) in 1999, met each other because both have family members with a rare disease. The two often had to take their children in for treatment, and encountered all kinds of difficulties, so they began to help each other out.

In those days neither the legal nor the healthcare system was properly prepared for dealing with rare diseases. The general public understood little about the issues that affected families face, and patients and their caregivers had to travel widely home and abroad seeking treatment, so it was only natural for them to turn to one another for support.

Tseng and Wu founded the TFRD based on their own personal experiences and after seeing the helplessness of the families of patients with rare diseases. “We can’t look after our children all their lives, but a system can,” says Wu.

The RDODA, passed in 2000 at the instigation of the TFRD, made Taiwan only the fifth country in the world to have such legislation. This not only made the treatment of rare diseases more systematic, it also made Taiwan a focus of international attention on this subject.

Every child is a treasure, and every parent’s wish is that their child can grow up healthy and free from worry.

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.

A model for other countries

Compared to other countries, Taiwan was ahead of the curve when it comes to treatment for rare diseases.

Thanks in large part to the TFRD, between 1999 and 2009 Taiwan built a very comprehensive environment for the treatment of rare diseases. Whether in terms of legislation, social welfare, how rare disorders are defined, or experience with clinical treatment, Taiwan has become a model for nearby governments such as Hong Kong and Indonesia.

In 2004, Dr. Damayanti Rusli Sjarif of Indonesia came to Taiwan to learn about the progress being made in developing the system for dealing with rare conditions. After returning home she sought out medical resources for rare diseases and launched an advocacy organization, using Taiwan’s definition of rare disorders and relevant systems for reference. Through ten years of effort she finally got the government and the medical community to sit up and take notice.

In Vietnam, it was only in 2014 that provisions related to medications for rare conditions were incorporated into legislation governing pharmaceuticals. This was the first time that people with rare diseases and the issues of concern to them began to get attention. In Hong Kong, the Hong Kong Alliance for Rare Diseases, an NGO similar to the TFRD, was founded only in 2015. Its main goals have been establishing a formal definition of rare diseases, setting up a database, and founding a rare diseases center. The Philippines passed its Rare Diseases Act in March of 2016.

In recent years, Southeast-Asian countries have devoted increasing attention to rare disorders. The export of the Taiwan experience has helped interest groups in Southeast Asia avoid having to re-invent the wheel.

Family members are the main source of support for patients. The TFRD”s cooking classes provide parents with a way to blow off steam and exchange ideas. (courtesy of TFRD)

Building up real capabilities

There are no borders to medicine, and when advanced diagnostic and therapeutic tools are developed, people affected by rare diseases anywhere in the world can benefit.

The TFRD has joined the US National Organization for Rare Diseases as an organizational member, and since 2016 is also partnered with EURORDIS, the European advocacy group for people living with rare disorders. These are platforms for sharing data and information about diagnosis and treatment.

There has long been an “information gap” internationally. But help is on the way. As a result of an initiative by EURORDIS, in November 2016 the United Nations established the NGO Committee for Rare Diseases (CRD).

Taiwan’s experience had previously garnered so much international attention that the CRD, on its own initiative, invited the TFRD to be present at the formal founding of the committee, and the TFRD was even asked to address the group, and to share the stage with representatives from the US and EU.

The TFRD planned to deliver an address on the theme “What Can Taiwan Contribute to the UN Sustainable Development Goals 2030: An NGO Model for Rare Diseases.” It also aimed to make concrete recommendations.

It was quite a challenge to try to sum up the experience of 20 years in a ten-minute speech. Sadly, however, the speech was cancelled due to political obstacles. But the TFRD, which is devoted to serving the ill, remains undaunted and has not given up its work. Tseng Min-chieh believes that there will never fail to be an international audience for practical services for patients. The TFRD has gone from learning from others’ experiences to creating an innovative service model unique to Taiwan. Like a shining pearl, the TFRD now has the rest of the world following Taiwan.

Art can have a psychologically therapeutic effect. The TFRD sponsors drawing classes to enrich the lives of participants. (courtesy of TFRD)

A “welfare home” sparks international discussion

The TFRD has been able to make a global impression and speak on behalf of patients with rare disorders as a result of the accumulation of real capabilities. At the beginning of their second decade, they began to think about how to provide a more comprehensive range of services.

Inspired by its experience of organizing travel for people with rare conditions, the TFRD has decided to construct a comprehensive “welfare home.” The design has been done by the famous architect Kris Yao. The facility will not be some cold and sterile building, but an imaginatively configured, fully accessible environment. When patients and their families come here, everywhere they turn there will be things that will immediately put them at ease, and within this space they can freely run and laugh. This innovative service model is the first of its kind anywhere in the world, and is a “new topic” for international exchange.

“Because of you, love is not rare.” Though the number of actual sufferers of rare disorders is, by definition, small, they cannot be ignored by public health authorities around the world. The TFRD has long been a window to the world for Taiwan, while never forgetting its mission of caring for and advocating on behalf of patients with rare diseases at home.                 

Architect Kris Yao has designed a “welfare home” for the TFRD that will provide an imaginative and relaxing accessible environment. (courtesy of TFRD)

Smiling children head outdoors, accompanied by parents and volunteers. (courtesy of TFRD)