ZHU Changqing, who suffers from amyotrophic lateral sclerosis (ALS), a muscle wasting disease, always keeps piles of drugs close at hand, for these have helped sustain her life over the past 20 years.

The 51-year-old Shanghai resident takes vitamins and nerve-boosting medicines three times a day, which costs her up to 5,000 yuan (US$813) a month. Yet, in recent years, as the disorder in which neurons die has progressed, she has still lost the ability to walk.

There is a specific overseas medicine which can help slow down ALS, says Zhu. But it costs more than 5,000 yuan for just one box, and a patient usually needs two boxes a month. And in any case other medicines are still required.

“Many ALS sufferers have to give up treatment due to the high costs,” says Zhu.

Zhu’s plight is typical of most of the almost 17 million Chinese who suffer from rare diseases such as ALS.

They struggle getting drugs for their conditions due to limited legal availability and high prices. Few are available under China’s medical insurance, which helps cover costs.

Treatments for such conditions are known as “orphan drugs” — drugs developed specifically to treat a rare medical condition.

Rare diseases, many of which are hereditary, are defined as conditions that affect 1 in every 500,000 adults or 1 in every 10,000 babies.

There are so far about 6,000-8,000 kinds of such conditions, including hemophilia, tuberous sclerosis that causes benign tumors to grow on the brain and organs, and achondroplasia — a common cause of dwarfism.

In China, it is estimated that 16.8 million people suffer from rare diseases.

Worldwide, no more than 5 percent of such diseases have drugs or treatments — and much fewer are commonly used in clinical practice in China, says Gu Longjun, a professor at the Shanghai Children’s Medical Center affiliated to the Medical Department of Shanghai Jiao Tong University, who specializes in pediatric hematology and oncology.

This means many people suffering from such conditions face difficult and uncertain futures.

Although the Ice Bucket Challenge that swept the world last year brought unprecedented attention to the plight of people with ALS and other rare diseases, only 130 orphan drugs are available on the Chinese market — and of these only 57 are included on the national medical insurance list.

Part of the problem is that in China few pharmaceutical companies are keen to develop and produce treatments as the individual markets are comparatively small.

Importing drugs legally brings problems too, as they must undergo extensive trials first. If approved, they are often very expensive.

So some patients resort to illegally imported drugs which doctors cannot officially recommend.

At the ongoing National People’s Congress, motions for legislation on rare diseases were raised by deputies.

A motion, raised by Liu Gexin of the Sichuan Kelun Pharmaceutical Company, seeks to support medication for rare disease patients while encouraging independent development of related medicines by domestic companies.

Most of the orphan drugs available in China are expensive imports, as no independent research and developments have been done by domestic pharmaceutical enterprises, says Huang Rufang, director of the Chinese Organization for Rare Disorders.

Costs put these completely out of reach for many patients.

For example, lifelong medication for Gaucher’s disease — a genetic condition in which fatty substances accumulate in cells and certain organs — costs about 2 to 3 million yuan per year on average.

In any case, the range of imported orphan drugs is very limited due to the lengthy and complicated approval process.

“Clinical trials on no less than 200 patients is required for the approval of any imported drug’s selling in China, but it can be very difficult to collect 200 cases,” says Huang, “And even when trials are completed, it’s common to take another five years to complete all the procedures.”

Faced with these obstacles, some doctors unofficially recommend patients to use the gray market to buy effective overseas drugs that are not approved for the Chinese market, says Gu.

Because they are not approved, they are legally considered “fake” drugs, though they are genuine.

Doctors are placed in a difficult situation as they can be sued by patients if problems arise and they are judged to have recommended their purchase.

“It is a helpless choice, made at the risk of a doctor’s career,” says Gu.

And of course, patients have to pay for these drugs themselves.

“One solution to the dearth of drugs for rare diseases should be to encourage independent development and production of local enterprises,” Gu says.

However, few domestic drugs companies have shown an interest.

“We are no less advanced in bio-technology, but entrepreneurs are unwilling to invest in drugs that may not bring profits immediately,” says Gu.

While Chinese drugs companies are reluctant to develop orphan drugs, Western pharmaceutical companies, including Pfizer and Roche, are seeing potential in a burgeoning global market.

According to the 2014 market report by EvaluateGroup, sales of orphan drugs — not including generic drugs — is expected to reach US$176 billion in 2020.

Orphan drugs will account for 19 percent of sales of prescribed drugs, and see annual growth of 11 percent, compared with just 4 percent for common drugs.

Yet this seems insufficient incentive for Chinese companies.

The market, competitors, technical difficulties and the likelihood of success are among major considerations for Chinese pharmaceutical companies in deciding whether to develop certain drugs, says a staffer with Jiangsu Hengrui Medicine Co Ltd, who asks to remain anonymous.

“The development of an orphan drug may not cost more than an ordinary drug, but it’s for a much smaller market,” says the staffer.

“We would get into trouble if we charged as much as foreign companies, but we’d lose money if we didn’t. So nobody is doing it,” he adds.

In a bid to tackle this situation, the motion by Liu of Sichuan Kelun Pharmaceutical Company would include setting aside special funding to develop original orphan drugs, offer incentives to producers, fast-track approval and establish a medical insurance system specifically for rare diseases.

Meanwhile, Professor Gu suggests that a fund with contributions from various sources be set up to help pay for medication for rare disease patients.

Such a system has been used in supporting treatment for conditions such as Gaucher’s disease in Shanghai, Qingdao of Shandong Province and Yinchuan of the Ningxia Hui Autonomous Region.

Under Gu’s scheme, contributions would come from national medical insurance, the government charity funding and commercial insurance.

So far, insurance companies have been reluctant to become involved.

“It is true that commercial insurance companies will lose money in this particular field. But considering that they probably make money in more than 90 percent of its products, why not make a little contribution to gain a better reputation?” says Gu.

One thing is certain.

Whatever solutions to the dearth of treatments for people with rare diseases can be found, they can’t come soon enough for patients such as Zhu Changqing.