High cost of drugs and serious long-term problems often result in large numbers falling into poverty, according to experts. Wang Xiaodong reports.

For the past three years, Liang Fen has set out on the 1,600-kilometer rail journey from Hengyang, Hunan province, to Beijing every quarter to pick up an icebox from a black market dealer.

Once the deal is concluded, she quickly returns home with the box, which contains a precious drug that means she will not have to worry about her 5-year-old son for the next three months.

The drug is a generic version of Cerezyme, a patented medication used to treat Gaucher disease, a rare illness whose symptoms include short stature, liver swelling and osteoporosis, aka "brittle bone disease".

Each dose of the drug, which is manufactured overseas, costs Liang about 12,000 yuan ($1,700). That's less than half the price of Cerezyme, developed by the French pharmaceutical company Sanofi, but the unbranded medication is almost as effective, according to Liang.

"Even the generic drug is too expensive for us, so I can only give my son the smallest amount necessary to keep him alive," she said.

She declined to disclose further details about the drug, including her source, because its sale and use have not been formally approved by Chinese authorities.

In recent years, Liang has maintained close contact with officials from Hunan's Healthcare Security Administration in the hope that Cerezyme will be included in the province's basic medical insurance program and she would be reimbursed for her outlay.

Currently, only a few provinces, including Zhejiang and Shanxi, have included Cerezyme in their medical insurance programs. However, Liang's hopes have been raised by news that a number of provinces, including Hunan, may include the drug in their programs by the end of the year.

Treatment shortfall

According to a report released in February by the Chinese Organization for Rare Disorders, a lack of affordable medication means patients with rare conditions, like Liang's son, are less likely to receive effective treatment than those with more common conditions.

As a result, they are often more severely affected by their illnesses and are more likely to end up in poverty.

The report noted that as of the end of last year, medication was only available globally for 74 of the 121 diseases in China that the National Health Commission defines as rare.

Of the 162 drugs on the global market used to treat the 74 diseases, 83 were available in China. However, only 29 were included in basic medical insurance programs, and they were only effective in treating 18 rare diseases, the report said.

As a result, about 230,000 patients-most of whom will rely on medication for their entire lives-have to bear all their drug costs themselves, with annual per patient expenditure ranging from 189 yuan to 5 million yuan. Moreover, millions more have no access to effective medication, while the lack of reimbursement means they cannot obtain adequate, sustained treatment, the report said.

A survey of 5,810 patients with rare diseases conducted by the organization from 2014 until last year showed that 42 percent received no treatment, while most of those who received some form of medication took a lower dose than that recommended by their physicians.

Moreover, more than half of the 5,810 patients developed ongoing chronic problems as a result of their illnesses and they spent more than 80 percent of their family's earnings on treatment every year.

There are no official statistics about the number of patients with rare diseases in China, but some experts believe the figure may exceed 20 million.

Over the past 10 years, a program run by the China Charity Federation has donated drugs valued at more than 1.3 billion yuan to 134 Gaucher patients, meaning the average cost was about 1 million yuan per patient.

"Without the program, it would be impossible for me to obtain the medication," said Zou Zhengtao, a 31-year-old Gaucher patient in Beijing, who receives free drugs provided by the program.

Zou said he knows some Gaucher patients who have to bear the entire cost of their medication themselves: "Most of them cannot afford the original (patented) drugs, so they have to try various alternatives to survive."

Diagnosis dilemma

According to Dong Dong, a professor of public health at the Chinese University of Hong Kong, a lack of effective diagnosis and the high rate of misdiagnosis are major challenges for patients with rare diseases.

"Sixty percent of Gaucher patients in China have been misdiagnosed, and some have even had to visit several hospitals to have a diagnosis confirmed," she said. "Most patients can only obtain accurate diagnoses at large hospitals in Beijing."

Zhang Shuyang, vice-president of the China Alliance of Rare Diseases, said the country has a severe shortage of doctors capable of identifying such diseases, which is a major obstacle to diagnosis and treatment.

Qiu Zhengqing, a pediatrician at Peking Union Medical College Hospital, said that while diagnosis of rare diseases has improved over the past 10 years, medical professionals require more training.

"It is essential that we establish a network for the diagnosis and treatment of rare diseases to facilitate the transfer of patients (between hospitals)," she said.

"It is unrealistic to expect every hospital or doctor to provide accurate diagnoses of rare diseases. Because they are rarely seen, most doctors have not experienced such illnesses. However, with a sound network, doctors would be able to refer a suspected case to a certain hospital that excels in its diagnosis and treatment to enable timely intervention."

Spotlight

Since the beginning of the year, rare diseases have come under the spotlight, with a number of measures taken to facilitate diagnosis and treatment.

They include accelerated market approval procedures for medications developed overseas, reduced value-added tax on 21 drugs used to treat rare illnesses, and intensified training programs for doctors.

In February, the National Health Commission published China's first guidebook on the diagnosis and treatment of rare diseases to help medical professionals, especially those at grassroots institutions, better identify, diagnose and treat such illnesses.

A network of hospitals has also been established for the diagnosis and treatment of rare diseases, led by Peking Union Medical College Hospital.

The network, which covers 324 major hospitals nationwide, is expected to improve cooperation to improve diagnosis and treatment skills, promote training of doctors, establish related standards and regulations, and facilitate the referral of patients between hospitals.

Wang Lin, an expert on rare diseases at the Beijing Medical Association, said patients with rare illnesses were neglected in the past compared with those with other maladies, but in recent years they have received more attention.

"In the past, we were primarily focused on health insurance for common diseases," she said. "Now we try to cater to the interests of minority groups, such as people with rare diseases, which is a sign of progress."

However, many challenges remain to ensure effective diagnosis and treatment, including the provision of affordable drugs for such patients, she said.

The very low number of physicians capable of diagnosing rare diseases spread across a few major hospitals means it would be an arduous task to provide training for vast numbers of doctors nationwide to enable them to identify such diseases, she said.

"A long-term mechanism should be established to ensure financial resources to provide medical care for patients with rare diseases, including a basic medical insurance fund, commercial insurance and social relief funds," she added.

Li Dingguo, president of the Shanghai Rare Disease Prevention and Treatment Fund, said authorities should accelerate the inclusion of more drugs to treat rare diseases in basic medical insurance programs to improve patients' access to effective treatments.

He also suggested that laws and regulations should be formulated to improve patients' access to medication.

"Legislation is needed to speed up the entry procedures for drugs from overseas used to treat rare diseases and also to encourage domestic pharmaceutical companies to develop such drugs," he added.(Source: China Daily)