The family of a boy nicknamed Mili in Maoming, Guangdong Province, who is suffering from the rare disease of spinal muscular atrophy (SMA), had to borrow a lot of money last year when they paid 700,000 yuan (US$110,000) for six injections of Nusinersen as required for the first year of treatment.
SMA, a genetic disease afflicting an estimated 30,000 people in China, is characterized by the loss of motor neurons in the spinal cord and lower brainstem that can result in severe, progressive muscle atrophy and weakness. The condition needs lifetime treatment with Nusinersen, the world's first therapy approved for treating SMA.
The drug cost was 700,000 yuan for each dose when its manufacturer, U.S. pharmaceutical giant Biogen, launched it in the Chinese market in 2019. Biogen, the China Primary Health Care Foundation and the municipal government provided some support, cutting the total price for the first-year treatment to 700,000 yuan. Still, the cost was unaffordable for the family.
Good news came early this month, when China's National Health Services Administration released its 2021 National Reimbursement Drugs List (NRDL), a compilation of medicines that are covered by the nation's government-run medical insurance program. Nusinersen was among 74 drugs that were added to this year’s list after Biogen agreed to slash prices by 95 percent.
According to Mili's mother, Nusinersen is now being sold at 33,000 yuan per jab. With coverage by public insurance, the family expects to pay 30,000 yuan to 40,000 yuan out of their own pocket a year for the three jabs that Mili needs in the second year of treatment. This has greatly reduced the financial burden of the family and given them hope.
Other rare disease sufferers may not be as lucky as Mili. Around the world, about 300 million people are suffering from nearly 7,000 rare diseases. In China, the number of this special group of victims is estimated at 20 million. Because these diseases are not common, few drugmakers are willing to spend huge amounts of money to develop a therapy for a very small market, and the cost of treatment is usually highly unaffordable even when a therapy is available.
Because of the lack of treatment, some parents resorted to building their own labs to produce medicines for their children. A therapy drug called "copper histidine," used for Menkes disease, which is caused by a genetic defect that prevents the body from absorbing copper ions, is available overseas but not yet approved for sale in China. Xu Wei, a man in Yunnan whose son suffers from Menkes, paid 20,000 yuan to a laboratory in Shanghai to make copper histidine and filmed the entire process, according to Chinese-language newspapers.
Back in Yunnan, he transformed his own utility room into a laboratory, purchased the equipment and materials, and concocted this blue liquid according to the techniques shown in the video. Xu's homemade drug has alleviated his son's illness.
In recent years, China has taken steps to help patients with rare diseases. According to the China Rare Disease Conference on Saturday, the government has approved therapies for 60 rare diseases for use and included more than 40 medicines for 25 rare diseases into the list of drugs covered by the government's medical insurance system.
Shenzhen's government-backed Serious Diseases Insurance Program, operated by insurance companies, in 2021 included for reimbursement four rare diseases such as SMA and Pompe disease, a severe neuromuscular disorder.
In addition to the government, medical institutions and charity groups can play a bigger role. Seven years ago the University of Hong Kong-Shenzhen Hospital started a charity program helping patients of osteogenesis imperfecta (OI), an inherited disorder which results in the formation of fragile bones that break easily. During the yearly free consultation sessions, the hospital's one-stop service for OI patients provides a multi-discipline consultation, while charity organizations offer financial support, accommodation and logistic supports to help patients. More hospitals should follow suit.
To help rare disease sufferers, the country's drug administration needs to quicken the approval of new drugs and imported medicines, and include more drugs to be covered by health insurance. Tax incentives and subsidies can also motivate pharmaceutical companies to develop treatments for this niche market.
Publicity campaigns can be launched to raise the awareness of rare diseases among the general public so that more people will lend their support to patients and their desperate families. Chinese celebrities with rare diseases can learn from their Western counterparts to open up about their sufferings. Actress Christina Applegate revealed recently that she has been diagnosed with multiple sclerosis, an autoimmune disease in which the body's immune system attacks its own tissues. Singer Sia suffers from both Graves' disease, an autoimmune disease that results in irregular thyroid function, and Ehlers-Danlos syndrome, which is a group of connective tissue disorders that affect the skin. Star power will galvanize the awareness campaign and prompt more individuals and organizations to take action.
Charity organizations and philanthropists should be encouraged to devote more resources to this special group of people, who may rightfully feel they are neglected and abandoned by society if they are left to fend for themselves.
(The author is a deputy editor-in-chief of Shenzhen Daily.)