China Focus: China's action on rare diseases inspires hope among patients

BEIJING, July 17 (Xinhua) -- Chinese health campaigner Wang Yi'ou has beautiful eyes, albeit a little different from the norm; the whites of her eyes, known as the sclera, are tinted blue. Behind this unique feature lies a heartbreaking reason: she has a rare medical condition called osteogenesis imperfecta, more commonly known as brittle bone disease.

Attending the third conference of the Global Health Forum of the Boao Forum for Asia on Tuesday, Wang didn't take the podium only as a patient of this rare disease, but also as someone devoted to helping others suffering the same misfortune.

As the founder of the Beijing-based Illness Challenge Foundation, Wang recounted her experience of establishing the foundation and helping other rare-disease patients at one of the conference's sub-forums, which focused specifically on the topic of rare diseases. Her speech won the applause of all those present.

According to the definition from the World Health Organization, rare diseases are medical conditions that affect 0.065 to 0.1 percent of the world's total population. Rare-disease patients face three major hardships: difficulties in diagnosis, limited access to medication, and hefty drug prices.

In China, more than 20 million people are suffering from rare medical conditions.

With increased attention on rare diseases in the country, China has made much progress in tackling such diseases in recent years. During the process, social organizations like the Illness Challenge Foundation, medical institutions and relevant authorities have all made due contributions.

A notable achievement in this regard is the establishment of a medical service network for rare diseases. In 2019, 324 medical institutions designated by China's National Health Commission were embodied in this system, allowing them to cooperate on rare-disease diagnosis, and receiving and treating patients. The network now consists of 419 medical institutions nationwide.

This system has greatly reduced the time before patients receive a definitive diagnosis of their illnesses. "The average time to definitive diagnosis has been shortened from four years to less than four weeks," said Zhang Shuyang, president of Peking Union Medical Hospital, the leading medical institution in the network.

The rarity of drugs is another matter that has long troubled patients suffering from rare illnesses. It is estimated that of the some 7,000 rare diseases identified so far, less than 10 percent of them can be treated with specific drugs.

In order to address the patients' needs, China's National Medical Products Administration (NMPA) gives priority to such drugs in assessment and approval procedures, said Geng Ying, an official of the NMPA Center for Drug Evaluation.

In addition, to ensure the timely provision of drugs for patients, the administration has teamed up with social organizations and other departments to source much-needed medicines.

In 2021, a patient suffering from paroxysmal nocturnal hemoglobinuria, a rare blood disorder, was unable to continue procuring a medicine for the disease. The administration worked jointly with parties including Peking Union Medical Hospital and pharmaceutical companies to search for substitute drugs, and eventually made a brand-new drug developed in Switzerland available for compassionate use at the hospital.

To alleviate the patients of their financial burdens, China has also expanded the coverage of its medical insurance. Earlier this year, 15 rare disease drugs have been incorporated into an updated catalog of medicines covered by China's national medical insurance, resulting in more urgently needed drugs being accessible at lower prices.

For instance, the price of a medicine for treating atypical hemolytic uremic syndrome, a rare illness that affects kidney function and causes abnormal blood clots, has been cut from over 20,000 yuan (about 2,804 U.S. dollars) a dose to around 1,000 yuan per dose.

Despite these achievements, experts noted that there is still much to be done in improving the lives of rare-disease patients.

Zhang, also vice chairperson of China Alliance for Rare Diseases (CARD), urged increased efforts to conduct epidemiological investigations and create a map of rare-disease case distribution in China to support the development and implementation of relevant policies.

Li Linkang, executive chairperson of the CARD, called on the general public to gain a greater understanding of rare diseases and illuminate the world of rare-disease patients with compassion and love.

"Caring for patients with rare diseases can rekindle their sense of hope," Li added. ■