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Rare disease sufferers who performed in the drama “Rare Hug” in Beijing in February to raise awareness of the plight of the estimated 20 million people in China with rare diseases. Photo: Simon Song

Rare diseases in China, their high treatment costs, and the people publicising patients’ plight

  • Twenty million people suffer from rare diseases in mainland China but of the 121 rare conditions on the government register, none entails free treatment
  • In February a foundation staged a drama performance featuring 15 patients with rare diseases to mark Rare Disease Day
Wellness

Pan Longfei is afflicted with Kallmann syndrome, a rare genetic disorder that prevents sufferers from fully completing puberty. The 30-year-old lacks such male attributes as armpit hair, an Adam’s apple and a beard. He also suffers from osteoporosis, epilepsy and heart disease.

He says his classmates made fun of him at school. “They said I sounded like a girl.”

His feminine features have caused him problems in his adult life, too.

“When applying for a bank card, some tellers said I was a girl, contradicting the male gender on my identity card. They refused to let me open a bank account. Embarrassing encounters in toilets where men have problems with me using the male toilet are also common,” he says.

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Twenty million people suffer from rare diseases in mainland China, according to the non-profit Illness Challenge Foundation in Beijing, which works with other groups to raise awareness of these illnesses and the plight of the people who have them.

According to Genetic Alliance UK, a charity that supports people affected by genetic conditions, the European Union defines a rare disease as one that affects less than one person in every 2,000. There are between 6,000 and 8,000 known rare diseases in the world. Patients often suffer from delayed diagnosis and scant and costly treatment, as drug manufacturers frequently consider it a bad investment to develop drugs to treat such small groups of people.

Rare disease patients performing “Rare Hug”, a play based on their struggles to overcome adversity, staged by the Illness Challenge Foundation. Photo: Simon Song
The plight of patients with rare diseases was brought to global attention in 2014 when the Ice Bucket Challenge went viral. The campaign encouraged people to dump a bucket of ice and water over their heads to raise funds for, and promote awareness of, the rare disease amyotrophic lateral sclerosis, or ALS, also known as motor neurone or Lou Gehrig’s disease.

Pan says treatment of rare diseases in China is backward compared to that abroad.

“I have to get hormonal injections 10 times a month, which cost more than 1,000 yuan [US$150] a month. My treatment is cheap compared to others. Of the 121 rare diseases incorporated in the government register, none entails free treatment.”

He says that of those diseases, haemarthrosis – a genetic condition that causes bleeding into joint spaces, a common symptom of haemophilia – is the disease which receives the most government financial support. Sufferers can receive government rebates of 80 per cent of their medical bills.

But for sufferers of Niemann-Pick disease – in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow and brain – or Pompe disease – a glycogen storage disease which damages muscle and nerve cells throughout the body – they might need one to two million yuan for treatment every year. “The Chinese government does not subsidise their treatment at all,” he says.

I always tired easily and felt depressed before. I had seen many specialists in urology who failed to find out what was wrong with me. It was not until a doctor in Guangzhou suggested I see an endocrinologist that I was diagnosed
Pan Longfei

In Taiwan, he explains, treatment for rare diseases is free; in Hong Kong, the government includes on its subsidised medicine register any rare disease medicine being used in more than two countries.

In mainland China, after a new medical product has been developed, the government requires researchers to conduct a six-year clinical trial on it before it can be made available to the public. “Those with fatal rare diseases cannot wait for six years,” Pan says.

According to a 2018 rare disease report, released by the Illness Challenge Foundation, on 2,040 patients and 285 medical personnel in mainland China, the average patient must shoulder almost 80 per cent of their medical bills, while the government gives them a rebate on the remainder.

Of the patients polled, 489 had never received any treatment for their rare diseases due to the high costs. Sixty per cent of patients said they had received misdiagnoses or delayed diagnoses. In the two most extreme cases, it took patients more than 40 years to get a proper diagnosis. The study also found a lack of understanding of rare diseases among doctors and other medical personnel polled.

Rare disease patients performing the experience of a mother with a rare disease giving birth to a child on stage during “Rare Hug”. Photo: Simon Song
Rare disease patients onstage performing “Rare Hug”. Photo: Simon Song

Pan, who now works for the foundation as a project manager to raise public awareness of rare diseases, said he was only diagnosed at the age of 23.

“I always tired easily and felt depressed before. I had seen many specialists in urology who failed to find out what was wrong with me. It was not until a doctor in Guangzhou suggested I see an endocrinologist that I was diagnosed.”

Yin Yuanyue, 29, from a rural family in the northern Chinese province of Hebei, was diagnosed with muscular dystrophy when she was seven years old. She does not work and relies on her parents’ income from running a grocery shop near their home.

“I don’t know whether my condition is covered by the government rebates. I don’t know where to look for such information,” she says.

“One side effect of my condition is diabetes. I have to have insulin injections four times a day that cost around 2,000 yuan a month. I sometimes get infections due to my diabetes getting worse and have to stay in hospital. Such stays, which happen every year and last from one to five weeks, cost several thousands to tens of thousands of yuan. The bills are a large financial burden on my family.”

Yin Yuanyue, photographed backstage during “Rare Hug”, was diagnosed with muscular dystrophy when she was seven years old. Photo: Simon Song

Apart from the financial drain, the condition also prevented Yin from getting an education.

“At seven years old, I contracted pneumonia. I have been wheelchair-bound since recovering from it. Schools here in the past did not have disabled-friendly access. They refused to take me in. I am glad that the situation has since improved and now it is illegal for schools to refuse admission to disabled children.”

Pan says society’s growing awareness of the disabled and rare disease sufferers is due to the work done by community organisations such as the Illness Challenge Foundation.

Last month the foundation staged a drama performance featuring 15 patients with rare diseases at Beijing’s Tianqiao Performing Arts Centre to celebrate Rare Disease Day on February 28. Pan and Yin both starred in the play, which was based on the patients’ struggles to overcome the adversity brought about by their conditions.

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Yin says she did not believe she could perform on a stage in front of a big audience.

“Taking part in the play allowed me to review my life and how I grew up. I feel blessed to be able to live to this day.”

The world’s most common rare diseases and their incidence in China

1. Multiple sclerosis

According to Statista, a German statistics portal, the most common rare disease worldwide in 2017 was multiple sclerosis, affecting 90 in every 100,000 people. Multiple sclerosis is a disease of the central nervous system that disrupts the flow of information within the brain, and between the brain and body. It leads to symptoms including double vision, blindness in one eye, muscle weakness, sensory disturbances and trouble with coordination.

In China: As in much of Asia, the prevalence of this disease in China is quite low: only one or two in 100,000.

Rare disease patient Su Jiayu performing during “Rare Hug”. Photo: Simon Song
Rare disease patients performing “Rare Hug”. Photo: Simon Song

2. Narcolepsy

Narcolepsy, or sleeping sickness, affects 50 in every 100,000 people globally. Narcolepsy is a chronic neurological disorder that reduces a person’s ability to regulate sleep-wake cycles. Symptoms involve excessive daytime drowsiness lasting from seconds to minutes that can strike at any time.

In China: Narcolepsy was detected at a higher rate in children in China following the 2009 H1N1 swine flu epidemic. Since then, findings have suggested that there is a link between the virus and the condition.

3. Primary biliary cholangitis

Primary biliary cholangitis, or PBC, is an autoimmune disease of the liver that was formerly known as primary biliary cirrhosis. This chronic liver disease slowly destroys the bile ducts within the liver, and over time, liver inflammation may cause scarring which leads to cirrhosis.

Patients lobbied for the name change as the disease is not alcohol- or drug-related (cirrhosis is most commonly caused by these things). With early diagnosis and proper medication, most people with PBC will never reach the cirrhosis stage. Worldwide, it affects about 40 in 100,000 people.

I n China: A 2016 review of available literature concluded that in China, where liver disease is widespread, PBC is not rare and usually does not progress to cirrhosis. Mainland Chinese researchers are focused on finding new treatments for the disease, ranging from stem cells to traditional Chinese medicine.

This article appeared in the South China Morning Post print edition as: The cost of a f f l i c t i on
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