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Treatment hampered by lack of definition of rare disease in Hong Kong

By Macau Mak & Total Lam

For Terry Lai Ka-wai, doing simple things that most of us take for granted can be a struggle – for instance, walking. “I used to sweat heavily after walking outside for five minutes in winter. I’d be like someone who’s just played ball games and have to change my clothes,” he says.

Lai, who is now 24, was diagnosed with Pompe disease when he was nine. Pompe is an inherited metabolic disorder caused by the deficiency of an enzyme used to break down glycogen to glucose in lysosomes. The lack of the enzyme causes the buildup of the glycogen in the body’s cells which can impair organs from functioning normally.

In his teens, Lai suffered from muscle weakness, a drooping jaw, curved spine and reduced lung volume and had difficulty walking and speaking clearly.

Terry Lai Ka-wai
Terry Lai Ka-wai

The Hospital Authority (HA) started providing Lai with subsidised medical treatment in 2010, and his physical condition has improved since then. With increased stamina, he is now working in a ticketing office after finishing his degree at Hong Kong Polytechnic University.

With only around one in 40,000 people worldwide suffering from Pompe, it is regarded as a rare disease in some places like Taiwan and the United States.

There is no universal definition for a rare disease. Most are caused by genetic mutations, some of which are inherited. For the United States, any disease affecting about one in 1,500 people is defined as a rare disease; for the European Union, the figure is one in 2,000 people; for Taiwan, one in 10,000 people. Currently, more than 6,000 rare diseases are known, although the number of patients with any particular rare disease is relatively low.

In Hong Kong, the HA has not defined what counts as a rare disease, so related statistics are unavailable. However, it has been providing enzyme replacement therapy (ERT) to patients suffering from certain lysosomal storage diseases since 2008. The ERT drugs – which provide patients with the enzyme that is deficient or defective in their bodies – are categorized as special drugs in the HA Drug Formulary. Only six diseases are addressed, namely Pompe, Gaucher, Fabry and Mucopolysaccharidosis (MPS) Types I, II and VI. In 2008-2009 and 2010-2011, the government allocated additional recurrent funding of HK$10 million and HK$35 million respectively for the HA to provide the costly therapy.

However, patients are not automatically prescribed the treatment. In 2007, the HA established an expert panel to assess applications for ERT on a case-by-case basis. The panel comprises paediatricians, physicians, clinical pharmacology experts and pharmacists. The panel has handled 27 applications and 17 patients were still undergoing ERT in December 2013. The HA adopts a year-by-year contract system to provide ERT for successful applicants at highly subsidised charges.

Although Terry Lai is one of the successful applicants, he finds the system very stressful. “We would not know whether our contract is renewed until the last minute. It’s just creating fear and pressure for the patients,” he says. Lai adds he knows the HA stops renewing contracts for patients if their body function worsens. As the annual cost of ERT is around HK$2 million without a subsidy, Lai would be unable to continue treatment without government support. So he is under pressure to make sure he can make improvements in walking and lung function tests so that his contract can be renewed.

Tsang Kin-ping, the executive committee member of the Hong Kong Alliance of Patients’ Organisations, says the contract system is inhumane. “It’s impossible to say the drug is here, but [the panel] still has to observe the patients,” says Tsang. “There’re hundreds of billions of dollars in the Hong Kong treasury. How can this be handled in this way?”

Although there are no official figures, it has been estimated less than 1 per cent of the population suffers from a rare disease. As ERT is only for patients with specific lysosomal storage disorders, the total cost of providing all these patients with the treatment should be less than HK$100 million, which is around 0.25 per cent of the annual recurrent allocation of more than HK$40 billion for the HA.

Patients’ rights advocate Tsang Kin-ping says the HA only considers the cost of medical resources, whereas he thinks cost-effectiveness should be calculated in a broader way. For instance, he says, patients and their caregivers can contribute to the labour force and rely less on social welfare if the patients can recover or control their symptoms after receiving treatment.

Tsang is also critical of the expert panel that assesses whether a patient should receive ERT. He says the decisions involve the use of public funding, but the panel’s member list and agenda are not disclosed. Their decisions are not made public and the panel has no responsibility to explain its rationale for rejecting an application or not renewing a contract. Neither is there an appeals mechanism. Tsang has suggested that the HA invite patients onto the panel but this was rejected.

In a written response, an HA spokesperson said that involving patients in the panel could lead to potential conflicts of interest. As for the lack of an appeals mechanism, the reply said that any application that is rejected can be resubmitted and that the panel would consider any new evidence.

While there are critical voices about the way patients are assessed for ERT, some rare disease patients do not even have any specific drugs to relieve their symptoms. Karen Chau Hiu-yin is a 21-year-old MPS Type IV patient. The symptoms include shortened limbs and trunk, cloudy cornea and ear infection. A drug for MPS Type IV is now available in the United States, but the new drug is not listed in the HA Drug FormularyDSC_0128

Chau’s father, Chau Po-yuen, is the chairperson of Hong Kong Mucopolysaccharidoses and Rare Genetic Diseases Mutual Aid Group, and he has written letters to the HA asking for the inclusion of the MPS Type IV drug in the HA Drug Formulary.

Doctors were unable to correctly diagnose Karen’s problem until she was five years old and attending a special school. Her father noticed she had the same symptoms as a classmate with MPS. He later managed to get a referral to the clinical genetic service and, after a DNA specimen was sent for testing overseas, his daughter was diagnosed as a MPS Type IV patient.

Lam Ching-wan, a professor at the Li Ka Shing Faculty of Medicine, Department of Pathology at the University of Hong Kong, says clinical genetics specialists are important to rare disease patients. They can conduct genetic diagnoses and identify the exact rare disease a patient has, so that a comprehensive treatment plan can be drawn up.

Lam says patients cannot contact genetics experts directly, because the Medical Council of Hong Kong does not recognise clinical genetics as a specialty. The council does not provide any examinations for those who want to be clinical genetics specialists.

Not only are they hard to find, but Lam says there are only a few clinical genetics experts in Hong Kong. He says a formal system to recognise the specialty and a local genetics college to train specialists may help make up the shortfall. But he says genetics is difficult to study and not many doctors are interested. “On average, a specialty involves the study of a hundred diseases, but for this, [genetics], 6,000 diseases have to be studied. It’s sixty times,” Lam explains.

Not all rare diseases patients have to rely on expensive drugs and healthcare services. Camilla Poon Lee-ling is a 21-year-old with Waardenburg syndrome, a rare genetic disorder with symptoms that include hearing loss, blue eyes and a forelock of white hair. Poon is studying at the Department of English at the Chinese University of Hong Kong and despite encountering occasional questions about her appearance, she can live a “normal” life with the aid of audiphones.

Camilla Poon Lee-ling
Camilla Poon Lee-ling

With hearing problems, Poon encountered greater difficulties in learning pronunciation. Her mother insisted on training her to speak rather than to use sign language because she wanted her to live like an “ordinary” person. “I didn’t have a childhood,” says Poon. “When I was growing up, my mother wanted me to practise pronunciations all the time. Once she lost her temper, she would hit me. I cried but continued to practise afterwards.” Even though they faced a lot of pressure, they did not seek help from any mutual support groups for emotional counselling.

Wallace Chan Chi-ho, assistant professor in the Department of Social Work at the Chinese University of Hong Kong, has worked with rare disease patients. He says mutual aid groups are an important source of emotional support for both patients and their families.

The government has allocated a total of HK$15 million per year to support the self-help organisations, including those who promote mutual help among rare disease patients. But Chan says the HA could collaborate with the patients’ groups by providing the groups with patients’ contact information so they can reach out to patients with the same rare disease from different districts and connect them with one another.

The Hong Kong Marfan Syndrome Association provides mutual support to patients with Marfan syndrome, which is a rare genetic disease. Steve Lau Chi-keung is the chairman of the group as well as a patient. Possessing Marfan syndrome symptoms, Lau was skinny and far taller than most of his classmates in primary and secondary school. However, the Student Health Service and university admissions body check failed to identify him as a potential Marfan syndrome patient.

When Lau was 32, he suffered a sudden heart attack that changed his life. One of the symptoms of Marfan syndrome is high blood pressure caused by defects in the heart valve and aorta, and this eventually led to the heart attack. Lau had to put his career on hold to undergo surgery. “I knew nothing at that time and you can imagine how anxious and helpless [I was],” Lau says.

Lau suggests the government provide screening services for those with a family history of inherited conditions and who show symptoms of certain conditions in their physical appearance. He stresses the importance of early diagnosis because treatment can be easier and more effective if started early. In the case of Marfan syndrome patients, they can take inexpensive medicine to lower their blood pressure and plan for surgery once they are diagnosed.

Joseph Lee Kok-long, the legislator representing the Health Services functional constituency, explains the existing healthcare system is disease-oriented, with most resources being channeled into the treatment level, rather than the two fundamental levels of early identification and screening. This applies to rare diseases too.

Taiwan and the United States screen newborns for a list of rare diseases that are treatable. As 50 per cent of rare diseases are childhood-onset, screening services can provide early identification and treatment for some rare diseases.

Unlike Taiwan and the United States, Hong Kong has no law for rare diseases and no definition. Advocates believe there would have to be a definition if legislation is enacted. Although Lee has reservations about legislation he does believe rare disease definition is essential as policy will follow the definition, and resource allocation follows policy.

Lee accepts that cost-effectiveness would have to be considered in any policy but he says there are three quantifiable and objective indicators used worldwide to consider whether to provide a new treatment to patients, namely life expectancy, quality of life and prognosis.

For Terry Lai, ERT has enabled him to live an active life and hold down a job. It has undoubtedly improved his quality of life. Lai passed his test in September and is guaranteed treatment for a year. In the meantime, he will prepare for next year’s test by jogging, swimming and playing basketball. He for one, knows that the key to health comes with a hefty price tag and cannot be taken for granted.

Edited by Silvia Li