Three years ago, 23-year-old Huang Huan suddenly fell into a coma and had to be rushed to hospital. After she regained consciousness, she was told she was suffering from pulmonary hypertension (PH) - a fatal disease that she had never heard of before.

This rare disease has an incidence rate of 15 to 35 in a million, same as that of leukemia. Though PH receives much less attention from the media, it can be even more deadly than leukemia. At present, there is no cure for it, and the drugs that are available can, at best, alleviate the symptoms.

Doctors from a hospital in Suining, of Southwest China's Sichuan Province, give a 2-and-a-half-year-old boy suffering from hydrocephalus a checkup, as his grandmother anxiously looks on. The family of farmers has spent all their savings on treating the boy. Zhong Min

However, the drugs are expensive, costing anywhere between 10,000 ($1,300) and 30,000 yuan ($3,900) per month.

Shortly after being diagnosed with PH, Huang lost her job. Knowing that she could not keep looking to relatives and friends for help, she looked for, and managed to find, another office job. But just half-a-year later, when her illness came out in the open, she had to leave.

Despite their illness, patients such as Huang are forced to continue working because PH is not covered by the country's basic medical insurance. "It is unfair to us. The medications we need, though expensive, are crucial for us," Huang said during a recent PH patients' forum.

PH is a complex health problem characterized by high blood pressure in the lungs. Not much is known about what triggers it, but what happens is that it leads to a narrowing, scarring and clotting of the blood vessels in the lungs, making it more difficult for blood to get through to the lungs. The right side of the heart has to pump harder to overcome this, and this extra stress can eventually lead to heart failure.

It is estimated that China currently sees 2,500 to 5,000 new PH patients each year. The average time a PH patient survives without any treatment is about two years. Most patients are misdiagnosed initially and simply wait for the end, because they cannot afford the expensive medication, according to Dr Jin Zhicheng, well-known PH expert and associate professor with the Cardiology Department of the Fuwai Heart Hospital in Beijing.

Dong Yan, a patient of Jin's, for example, has chosen to stay in Japan after completing her college studies.

His mother, Ms Liu, said: "Many times, I have wished my daughter could be with me. But I have to leave her alone in Japan, as she can get free medication for her disease there." She said she constantly dreaded the possibility that her daughter could die suddenly, with no one beside her.

According to Jin, in many neighboring countries, such as Japan, Singapore and Thailand, PH patients can get special reimbursement for their medical bills as long as they prove the diagnosis was made by specialists. In the United States, patients are entitled to free medication as long as they pay an extra $1,000 into their medical insurance every year.

"The medications make a big difference," he said.

For example, in the United States, more than 80 percent of the patients under treatment lived for 10 years after the first diagnosis of the disease. By contrast, in China, only 68 percent had lived for one year after the first diagnosis, Jin said.

For patients of rare diseases, such as PH, having their medications covered by insurance held out their only hope of prolonging their lives.

However, according to an official from the Ministry of Labor and Social Security, including rare diseases in the national medical insurance scheme is still not on the agenda as China lacks a clear definition of what constitutes a rare disease.

Rare diseases are commonly defined as those affecting a few or few dozen among one million people. Because so little is known about most such diseases, an accurate diagnosis is often made late, and developing drugs for such diseases is not commercially viable. Even when drugs are developed, they are very expensive owing to their high development costs vis-a-vis the small number of users.

At this year's two sessions of the National People's Congress (NPC) and the Chinese People's Political Consultative Conference (CPPCC), Sun Zhaoqi, a deputy to the NPC from Anhui Province, made a proposal for the second time in the past two years that medical insurance should give preference to sufferers of rare diseases.

In 2005, Sun met Zhang Yafei, the first identified case of Fabry disease in Anhui Province.

Twenty-eight-year-old Zhang was diagnosed in 2005. Fabry disease is a rare hereditary disorder caused by a faulty gene. The estimated prevalence among the general population is 1 in 117,000 people. Fabry patients cannot produce enough of an important enzyme needed to clear certain cells in the body of a fatty substance, the buildup of which can eventually lead to life-threatening complications.

Since his childhood, Zhang rarely perspired and often ran a high fever in the summer. To cool down, he would often lie down on the cement floor of his home. For many years, he was treated as a Pyelytis patient. But his symptoms just grew worse, and the developed increasing joint pains that severely restricted all outdoor activities.

Zhang told Sun that the only drug that worked for his condition was produced by a US company but could not be imported into China. However, even if Zhang could have accessed the drug, its cost - $160,000 every year - is prohibitively high.

For patients such as Zhang, there is no option but to suffer and wait for death.

Li Zengxi, 5, joins the medical insurance system by showing her household registration at the Anhui Provincial Children's Hospital on July 1. Anhui has implemented a comprehensive medical insurance system covering all residents suffering from illnesses acknowledged by the Ministry of Health. Xu Guokang

Sun said the developed, and even many developing, countries have special laws to deal with patients suffering from rare diseases.

He said there were several reasons for the difficulties such patients faced in China. There is no concept of rare disease either in the national medical security system or in the medical insurance drugs catalog. Also, few medical institutions are engaged in the research of rare diseases, and this means patients do not get timely diagnosis and treatment. There are also no preferential policies to encourage domestic pharmaceutical companies to develop new drugs treating rare diseases.

Jin said that in the absence of medical insurance coverage, he had found that helping patients, their families and doctors share information and experiences had provided some relief.

The PH Association he started in 2003 has tried to build on the success of the Pulmonary Hypertension Association (PHA) in the United States.

At the time the PHA was being organized by three PH patients at a dinner table in 1987, there were only 50 diagnosed cases of the illness in the United States. There was no hope, little knowledge and little research.

Thirty years later, the PHA has grown into an association of 8,000 members and an additional 28,000 supporters, and has significantly raised general awareness about the condition in the United States.

Rino, president of PHA in the United States, believes that its successes have become possible due to its unique structure wherein patients, their families and doctors work together to seek and deliver solutions.

Jin hopes his association can help patients and their families cope with this devastating disease and provide networking opportunities to end their isolation, assist in locating doctors and medical facilities with expertise in treating PH and form support groups to allow patients to establish contact with others.

The first PH website that Jin established in 2005 came as a blessing for PH patients, as kind words of encouragement poured in at the slightest change in condition in any member. "Here they found a way to deal with their hopelessness," Jin said.

(China Daily 07/16/2007 page8)