Event highlights plight of rare disease sufferers
The ninth international Rare Disease Day, initiated by the European Organization for Rare Diseases, was marked on Feb 29 this year.
The date was chosen because such “leap days” are rare, only happening once every four years.
On and around this day, medical and research institutions as well as other organizations all over the world hold activities to raise awareness of rare diseases.
One in every 2,000 newborns in China has a hereditary disease, such as amyotrophic lateral sclerosis or Pompe disease.
But according to Huang Rufang, director of the Chinese Organization for Rare Disorders, there is no system of national medical care for sufferers, especially as there is no clear definition of what constitutes a rare disease in China at present.
“Legislation for rare diseases faces multiple hindrances, there are barely any medical research funds in the field and the admission mechanism for orphan drugs (pharmaceutical agents developed specifically to treat rare medical conditions) is not in place,” Huang said.
Sun Zhaoqi, a deputy to the National People’s Congress, has brought forward a proposal regarding the prevention and treatment of
Legislation for rare diseases faces multiple hindrances ... Huang Rufang, director of the Chinese Organization for Rare Disorders
rare diseases for 10 consecutive years, but this has never been adopted, as there is no government policy to refer to and therefore no medical insurance for patient reimbursement.
According to an investigation into China’s small- and medium-sized pharmaceutical enterprises carried out by Yangcheng Evening News in February, most are keen to research and develop widely used medicines, but are less inclined to work on drugs for rare diseases due to the relatively small size of the market and slim profit margins on offer.
In addition, foreign drugs for rare diseases are not often introduced to China either, according to the investigation.
Even if the drugs are imported, they are rarely used in clinical treatment because patients cannot be reimbursed under existing medical insurance policies.
Patients with brittle bone disease perform at a shopping mall in Jinan, Shandong province, to raise awareness of rare diseases.