Xinhua News Agency, Beijing, February 27th Title: Diseases are rare, and care is rare-China has taken a key step to solve the problem of rare diseases.
Xinhua News Agency reporters Chen Fang and Tian Xiaohang
It was a nightmare disaster. From the age of 1 to 16, Wang Yiou suffered six fractures.
The 37-year-old Yiou has beautiful and clear blue eyes. People familiar with the disease know that this is one of the typical symptoms of brittle bones patients known as "porcelain dolls": blue sclera.
Behind the seemingly beautiful but shocking names of "Puppet Man" and "Glass Man" are life killers-rare diseases. The last day of February every year is the International Day of Rare Diseases. In China, more than 20 million patients with rare diseases, including gulls, have attracted more and more attention from all walks of life.
Although diseases are rare, social care is rare. Following the price reduction of some anticancer drugs and medical insurance, "ensuring the use of drugs for 20 million patients with rare diseases" was put on the agenda. The establishment of China Rare Diseases Alliance and the preferential treatment of value-added tax for rare diseases drugs … China has made a key step to solve the problem of rare diseases.
How many patients do you have? Without ice bucket action, would you know about gradual freezing?
Hawking, a famous physicist who died of illness last year, struggled with gradual freezing for 55 years. A relay ice bucket challenge made more people know about this rare disease called amyotrophic lateral sclerosis. At present, there are about 200,000 patients with gradual freezing in China.
Ding Jie, member of Chinese People’s Political Consultative Conference and chairman of the rare diseases branch of Beijing Medical Association, has been devoted to the research, diagnosis and treatment of rare diseases in recent years. Since 2013, its team has collected more than 400,000 inpatient medical records of rare diseases in more than 30 3A hospitals in Beijing in the past five years, and found that the incidence of patients with rare diseases is increasing year by year. Studies show that more than 80% of rare diseases are caused by genetic factors, and 50% occur at birth or in childhood. Once both spouses have the same defective gene, the next generation may suffer from rare diseases.
High misdiagnosis, high missed diagnosis and difficulty in medication are common "symptoms" of patients with rare diseases. The survival report of patients with multiple sclerosis published by the Neurology Branch of Chinese Medical Association shows that 47% of patients cannot be diagnosed immediately, and 38% of patients are misdiagnosed as other diseases. The most commonly misdiagnosed diseases are neuromyelitis optica and angiopathy.
There is no symptomatic medicine, the drug price is too high, and medical insurance is difficult to cover, which makes some patients with rare diseases "hope for medicine."
Zhang Shuyang, secretary-general of China Rare Diseases Alliance and vice president of Peking Union Medical College Hospital, said that less than 5% of rare diseases in the world have effective drug treatment. There is no medicine available, which is a big problem facing patients with rare diseases all over the world.
Ding Jie cited a survey of 2133 patients with more than 20 rare diseases, which showed that 78% of the patients could only be reimbursed less than 10% or paid at their own expense, and more than six of them gave up treatment because they could not afford the expenses.
"China has a large population base. Even if the incidence rate is not high, the number of cases of various diseases is not a small number." Zhan Qimin, academician of China Academy of Engineering and director of peking university health science center, said that 10 years ago, few people knew about rare diseases in China. Nowadays, with the joint efforts of the government, social organizations, doctors, medical research institutions and pharmaceutical companies, rare diseases are beginning to "stand in the spotlight" more and more.
How difficult is the treatment? 130 patients with Gaucher’s disease were treated in 10 years, with a total investment of 1.3 billion yuan.
The variety and complex clinical manifestations make it difficult to diagnose, which is another difficult problem in the diagnosis and treatment of rare diseases. Even some patients with rare diseases took twenty or thirty years to be diagnosed.
As a rare disease, multiple sclerosis is a serious, lifelong, progressive and disabling central nervous system disease. More than 30,000 patients are suffering, but many people didn’t know that they were suffering from this "lifelong" disease at first.
The research and development cycle of a new drug for rare diseases is usually more than 10 years. As of 2016, there are 189 kinds of orphan drugs listed in China to treat rare diseases, which is far from meeting the treatment needs compared with as many as 6,000 to 8,000 kinds of rare diseases.
Gaucher’s disease, which is "as big as a drum" and causes damage to the central nervous system, costs millions of yuan a year for its treatment, which is undoubtedly astronomical for an ordinary family. "It is a miracle to help 134 patients with Gaucher’s disease receive treatment so that they can work and live normally, and some of them are married and have children." Wang Shufeng, executive vice president of china charity federation, said that since the launch of the Sizanzan aid project for Gaucher’s disease in china charity federation in 2009, more than 57,000 aid drugs worth more than 1.3 billion yuan have been distributed.
Experts pointed out that rare diseases involve hematology, orthopedics, nerves, kidneys, respiration, skin and severe diseases, and clinicians generally lack professional knowledge of rare diseases. In China, more than 30% of patients with rare diseases need 5 to 10 doctors for diagnosis, and the scientific diagnosis process, related clinical pathways and multidisciplinary consultation mechanism need to be improved.
"It is impossible to ask all doctors to treat rare diseases, but at least let them have this awareness." Ding Jie said that when encountering certain symptoms, as long as we can think of the possibility of rare diseases and recommend patients to medical institutions with diagnosis and treatment capabilities in time, it is an improvement.
How practical is the measure: bringing good news to more than 20 million patients with rare diseases.
The recent the State Council executive meeting pointed out that "strengthening the prevention and treatment of major diseases such as cancer and rare diseases is related to the well-being of hundreds of millions of people".
The head of the Medical Administration and Hospital Authority of the National Health and Wellness Commission said that China will further promote the institutionalization and standardization of the management of rare diseases, study and explore new ways to promote the standardized diagnosis and treatment of rare diseases, improve the level of disease diagnosis and treatment and new drug research and development, and strive to provide timely and efficient medical services for patients with rare diseases.
"We should explore multidisciplinary cooperation, promote early diagnosis and treatment of rare diseases, and strive to reduce mortality." Zhang Shuyang revealed that China plans to initially complete the national rare disease registration system by 2020, carry out more than 500 kinds of rare diseases registration research with 50,000 cases, and promote data sharing research.
Accelerate the listing of "orphan drugs". At present, the application for registration of rare disease drugs has been given priority review and approval. People expect more innovative drugs to bring good news to patients.
It is preferred to select rare diseases with urgent clinical needs and clear treatment plans, which can greatly reduce the disability rate and mortality. Experts call for the establishment of a multi-party rescue model to solve the dilemma of diagnosis, treatment and medication for patients with rare diseases.