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August 29, 2014

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Challenge brings light to disease

GET drenched in ice water or donate to the ALS Foundation. The ice bucket challenge to raise awareness of amyotrophic lateral sclerosis — a neuromuscular disorder — has swept China with participants ranging from celebrities to ordinary people.

So far, the campaign has raised more than 6.89 million yuan (US$1.14 million) for the China-Dolls Center for Rare Disorders (CCRD), a non-profit organization that received only 2 million yuan in 2013.

CCRD, though not a specific organization for ALS, says it will use the money to help more patients with diseases including neuromuscular disorders.

The very successful marketing campaign has brought unprecedented attention to the disease. But for 50-year-old Zhu Changqing, initiator of the Neuromuscular Disease Association of China (MDA China), there are many ways people can help other than having a bucket of ice water dumped over their heads.

Zhu is also a muscular dystrophy patient, having fought the disease for about 20 years.

She says giving a donation or participating in related volunteer works may provide more direct help. An electric wheelchair, a non-invasive ventilator, or an eye-tracking system will help improve the lives of the sufferers and help them live with dignity.

Neuromuscular disorders are inherited. They cause muscles to become progressively weaker. They eventually kill the sufferer when the muscles for swallowing, breathing or even heartbeat fail.

In China it is more widely known as jian dong ren (literally “gradually frozen men”), which aptly describes patients’ gradual loss of control of their muscles until they become paralyzed, or “frozen.”

The disease ranks as among the five most serious ailments in the world, along with AIDS and cancer, for which doctors have no cure. Patients have to rely on medication and physical treatments to relieve symptoms. There is estimated to be 4.5 million muscular dystrophy sufferers in China, with about 50,000 in Shanghai.

Many sufferers also struggle to cope mentally with the disease.

“Being diagnosed with muscular dystrophy in 1993 was a nightmare that shadows me in the prime of life,” says Zhu.

Because it’s a genetic disease, Zhu chose to break up with her boyfriend since she could not give him a normal family with a child. Though she passed all the entrance exams for a doctorate at a local university, she was rejected because of her health problem. Feeling depressed and helpless, Zhu got through the psychological low ebb when she realized there was still something important for her to do.

“A friend of mine told me that I was not alone. There must be other muscular dystrophy patients in the country who also are depressed and in urgent need of help,” says Zhu.

Inspired by the world’s first muscular dystrophy association set in 1950 in the US, Zhu started to prepare for China’s own association — the MDA China — in 2002. In Zhu’s blueprint, the association would gather doctors, researchers and patients to promote research into the disease, provide service for patients and raise public awareness. She hopes that her efforts will bring as many patients “out of the dark” as possible.

However, the association still has not been approved due to complicated “technical problems.” In spite of that, it has brought light to some patients in Shanghai through its programs during the intervening 12 years. This includes a website providing medical information, group psychological counseling for patients and their families, outings that help sufferers get out to visit places they otherwise might not be able to, and door-to-door volunteer service on educational courses, rehabilitation therapy, and nursing instructions.

“Most of the patients that I have contacted are mentally strong, with great passion for their life regardless of their physical problems,” says Cindy Qin, a volunteer with the MDA China for eight years.

Contracting the disorder at eight months of age and finally getting diagnosed at three, Jack Feng, now 29, never had a chance to study at schools. With the help of courses provided by the association-to-be, Feng passed the top Japanese Language Proficiency Test and became a professional translator, even though he can only control two fingers and his mouth at the time.

“I always consider myself a lucky guy who crawled from hell to the man’s world,” says Feng. “It is just because I was so close to death that I cherished the moment of living better.”

However, regardless of many patients’ strong will, the progress of the disease is not stoppable, and limited help and support from the society can leave patients and their families feeling desperate.

Though Zhu could still walk slowly with the help of ankle and leg braces in the first few years after she started the association-to-be, she must now rely on an electric wheelchair. She has lost control of her upper arms, and had to hire a 24-hour ayi after both of her parents had died by 2012.

And a 17-year-old boy she knew with the disease died of breathing difficulty, which just saddened her more.

“He could have lived with a non-invasive ventilator,” says Zhu. “But his parents have low income and just couldn’t afford the 40,000-yuan machine that is not covered by medical insurance.”

In fact, most costs of treatment are not covered by the state insurance, imposing huge financial burdens on families. Apart from the monthly cost of 3,000 yuan to 5,000 yuan for medication, most sufferers will eventually need electric wheelchairs and non-invasive ventilators as their diseases progress, which is beyond their financial capability in most cases.

Though the neuromuscular disease is more widely known in Shanghai, support for patients is still limited. Sufferers have a hard time getting ordinary education, employment and medication.

The absence of laws and regulations to support and protect the rights of sufferers is a major reason. Though MDA China has kept requesting the government to act, very limited progress has been achieved so far.

“I never overestimate our ability as an association,” says Zhu. “What we can do is just help raise public and governmental awareness, so as to urge the government to take action. Only by then may most sufferers in Shanghai really enjoy a life with dignity.”

Other rare diseases in China

The World Health Organization says the occurrence rate for rare diseases is lower than 0.065-0.1 percent. Most rare diseases are genetic, and thus are present throughout a person’s life, even if symptoms do not immediately appear.

The rare incidence poses big obstacles to the clinical advancement in treating such problems.

 

Albinism

Albinism is a congenital, inherited disorder featured by complete or partial absence of pigment in the skin, hair and eyes. Most patients appear white or very pale, while ocular albinism often results in pale blue eyes. The disease is often accompanied with vision defects like photophobia, nystagmus and astigmatism. Most patients suffer poor physical and intellectual development.

There is no cure. Albinos need to avoid sunburn and have regular skin checks. Surgery is possible on the ocular muscles to relieve eye conditions, but effectiveness varies.

 

Osteogenesis Imperfecta (China Doll Disease)

Osteogenesis Imperfecta (OI) is a congenital disorder characterized by brittle bones prone to fracture. Patients are born with defective connective tissue or without the ability to make it. The easy and repeated bone-breaking may seriously disable or even kill sufferers.

There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fractures and maintain mobility. Most patients suffer fewer fractures after adolescence.

 

Hemophilia

Hemophilia is a hereditary disease that impairs the body’s ability to control blood clotting or coagulation, which stops bleeding. In severe cases, even a minor injury can result in blood loss lasting days or weeks, or even never healing completely. In areas such as the brain or inside joints, this can be fatal or permanently debilitating.

Hemophilia cannot be cured, but medication to improve coagulation can help relieve the symptoms. Related gene therapy research is under way.

 

Lymphangioleiomyomatosis (LAM)

Lymphangioleiomyomatosis is a lung disease resulting in a proliferation of disorderly smooth muscle growth in the lungs, bronchioles, and related tissues. Patients usually suffer shortness of breath, coughing blood, recurrent pneumothorax and chylous pleural effusion. Symptoms are more likely to be found among women in their 30s.

Sirolimus treatment is often used to improve quality of life in mild-to-moderately severe LAM patients.




 

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