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.
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.