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Emily Tsang

More than 12 years ago, Taiwanese mother Serena Chen lost her beloved younger son very suddenly. The energetic 21-year-old student was found dead by his desk, as if he was just taking a nap.
Chen remembered that her last words to him had been to order him to study hard and stop playing video games.
“He did exactly what I said, studying by his desk in his final moments with the textbooks still opened,” Chen said as she wiped her tears away during an interview in Taipei.
She later learned that her son had been born with an incurable gene defect that could cause his heart to stop at any moment. It was a rare disease and unheard of in Taiwan at the time.
It took Chen a lot of effort to find out the cause of death because it was so uncommon. She had insisted on taking her son’s body to the US for an autopsy.
Following the diagnosis, Chen’s elder son was tested immediately. Fortunately, he did not have the same condition.
Recovering from the pain of her loss, Chen founded the Taiwan Foundation for Rare Disorders in 1999. The group became the main force in the fight to make the island’s government recognise the plight of rare disease sufferers, and successfully pushed for a law to provide such patients with medicines that they often could not afford.
Disabled students battle against the odds in Hong Kong’s pre-university exams
“The battle against rare diseases has been eternal, so little understood by others,” Chen said. “It can happen to anyone. It may take place in the family next to you, or your family. It depends whose cross it is to carry.”
She advised sufferers and lawmakers to engage more actively with the media to give the public a better understanding of these diseases and compel the government to take action. The government should also encourage gene screenings before marriage, before pregnancy and during childbearing to help potential parents, she said.Hong Kong lawmaker Fernando Cheung Chiu-hung has urged Chief Executive Carrie Lam Cheng Yuet-ngor to follow Taiwan’s lead in using legal means to guarantee the supply of so-called orphan drugs for specific rare diseases, which drug makers are reluctant to produce given their high research costs and small market.
The right of rare disease patients to access expensive life-saving drugs caught the public’s attention after Josy Chow Pui-shan, 23, paralysed with an unusual condition, wrote Lam a letter with the only two fingers she could use to ask for treatment.

Lam promised to try to get Chow and others with spinal muscular atrophy (SMA) access to a potentially life-saving new drug.
The Food and Health Bureau is trying to contact the US drug maker to find out how to get local patients Nusinersen, the first drug for SMA, a spokesman said.
Chen said it was encouraging that Lam was adopting a more sympathetic attitude towards the group than the previous administration had.
“The public needs to understand about rare diseases properly – they take place not because your ancestors were cursed or your home has very bad feng shui,” Chen said. “It is a humanitarian problem, a gene puzzle to be solved by the nations and even the entire human race.”

Rare diseases are defined differently in different countries. In the US, the term refers to conditions that affect fewer than 200,000 people. In Taiwan, it means a prevalence rate below one in 10,000. The government has identified 250 illnesses with about 10,700 sufferers.
The Hong Kong Alliance for Rare Diseases said Hong Kong still lacked a clear definition of rare diseases. It estimated that there were about 2,500 sufferers in the city.
Duncan Wei, 45, who suffers from a rare disease that affects all of his body’s joints, witnessed the long battle between patients and the Taiwan government over the years. The wheelchair-bound man, famous in Taiwan for his positive integrity, told the Post to pass on messages to encourage Chow and other Hong Kong patients. He is now an active chorus member in his church, as singing is the only hobby he can still do.
Wei is also from Chen’s group, which has been the main force behind welfare improvements for rare disease patients in Taiwan.
The foundation successfully pushed for passage of the Rare Disease and Orphan Drug Act in the Taiwan legislature in 2000. Under the act, the government must provide a budget to the National Health Insurance Programme (NHIP) to cover costly orphan drugs.
Treatments approved by either the United States or the European Union can also be used on Taiwanese patients directly without delays to have them tested locally.
Watch: Group member Duncan Wei sings ‘You Raise Me Up’


As there is no such act in Hong Kong, lawmaker Cheung urged the government to set up a HK$20 billion fund to guarantee access for rare disease patients. He said it was often very time-consuming for new treatments to be made available due to the stringent approval procedures.
Hong Kong Chief Executive Carrie Lam promises to try to secure treatment for rare disease sufferer
“No patient should die because they cannot afford an expensive drug,” Cheung said. “Getting new treatment a few years or even a few months sooner can already make a great difference to these patients.”


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Wellness

Hong Kong urged to learn lessons from Taiwan to better treat rare diseases

Taiwan Foundation for Rare Disorders co-founder Serena Chen, whose younger son died from an unusual condition. Photo: Emily Tsang

Lawmaker Fernando Cheung Chiu-hung speaks in an interview about Xiao Hiu-chuen's rare disease. 25AUG17. SCMP/ Dickson Lee

Duncan Wei, 45, who is born with a rare diesease that left all the joints on his body to twist to different direction, leaving on wheelchair for life. SCMP / Emily Tsang

Interview with University of Hong Kong student Josy Chow Pui-shan, a spinal muscular atrophy (SMA) patient, at the University of Hong Kong in Pok Fu lam. She and other SMA patients called for an earlier introduction of an US FDA-approved drug to Hong Kong. 30SEP17 SCMP / Felix Wong

Hong Kong Chief Executive Carrie Lam Cheng Yuet-ngor meets 23 year-old Josy Chow Pui-Shan, who suffers from a rare disease, spinal muscular atrophy, outside the government headquarters in Admiralty on Sunday morning during a gathering of parents and patients for more government support

News

Hong Kong

Health & Environment

The Post speaks to Serena Chen, who founded the Taiwan Foundation for Rare Disorders after her son died more than 12 years ago


Hong Kong healthcare and hospitals

Medicine

Disease