Patient communities

Patient organizations, or communities, are another approach for those with rare diseases and their families to enable them to gain a more positive attitude and practical experience to better live with such diseases and improve their quality of life.

Newly diagnosed patients and their families can quickly obtain information on medication, doctors and family care related to the disease after joining these organizations, said Kevin Huang Rufang, founder and director of the Chinese Organization for Rare Disorders. Huang said there are more than 80 such organizations nationwide.

Zhou Yingchun said he started to translate foreign documents about skin care for patients with Epidermolysis bullosa in 2006, before many doctors were familiar with the disease. The patients also asked for discounts from pharmaceutical companies for surgical dressings to protect their skin when it blistered, he said.

Doctors said they had witnessed the growth of patient communities in recent years. The communities were initially formed to exchange experiences, but later took part in discussions and international seminars with doctors and medical companies. They also sought attention and help from the media, social organizations and government departments, and finally promoted the progress made in the treatment of rare diseases in China.

Li Wei, vice-president of medical affairs at Shanghai Roche Pharmaceuticals, said, "The Phase II clinical trial of a medicine for SMA patients by our company started on the Chinese mainland in April, and the patient community－the Mei'er Advocacy and Support Center for SMA－did a lot, including seeking enough participants for the trial."

Medical experts said they regarded the country's first rare disease list, which contained 121 such diseases and was drawn up in May, as a milestone in this area.

Ding said: "The list included diseases for which therapies are available in the country and for treatments that are still being developed. It will certainly accelerate work on the diseases and relevant therapies."

Peter Fang, head of Asia Pacific and acting China general manager at Shire Pharmaceutical, a company headquartered in Ireland that caters to patients with rare diseases and specialized conditions, said: "With such guidelines, there are opportunities to bring to China rare disease therapies at the same time as the United States and Europe. In the past, Chinese patients had to wait eight to 10 years after a drug won approval in the US."

Li Dingguo, a member of the Expert Committee of Diagnosis, Treatment and Security of Rare Diseases with the National Health Commission, said only 15 of the 101 therapies for rare diseases patients marketed in the US are available on the mainland. Li is also an honorary professor with Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine.