Rare disease groups urgently need legal protection

“Promoting the Government's Policy in the Field of Rare Diseases” – This is an important element in the work goal of the Porcelain Dolls Care Center. In February 2009, the Porcelain Diabetes Rare Diseases Care Center teamed with five organizations of rare diseases to initiate the call for the signature of the “Two Calls for Legislation to Call for Legislation for Rare Diseases” proposal. Since then, every year in the two sessions, the porcelain doll rare disease care center will make recommendations through NPC deputies and CPPCC members.

Diagnosis of rare diseases is difficult and treatment is more difficult. As the number of patients suffering from each disease is relatively small, the medical profession and society as a whole have less knowledge of them and are easily overlooked. The vast majority of patients are misdiagnosed because of long-term missed diagnosis; the "scope and criteria for treatment and treatment of rare diseases" has not yet been defined and established. It has made screening and treatment difficult for patients; in addition, a large number of hospitals, including the top three hospitals, lack the necessary equipment for the detection of rare diseases, and most rare patients cannot be diagnosed.

It is reported that there are more than 6,000 rare diseases in the world, including glass people, hemophilia, pulmonary hypertension, Fabry disease, pulmonary lymphangioleiomyoma, frozen people and so on. Because there are fewer patients, pharmaceutical companies in most countries are reluctant to develop drugs to treat these diseases, and only 1% of rare diseases have effective drugs, so the rare drugs are called "orphan drugs." Which country has orphan drugs come out, the world must import, and form a world exclusive monopoly, drug prices are ridiculously high, more than one year more than 100,000 yuan more than two hundred thousand dollars.

Symptomatic medicines for rare diseases in our country basically all rely on imports and are expensive. After importation, it will not be added to the Medical Insurance Drug List. Medicare will not be reimbursed and many patients will not be able to afford it. In the absence of symptomatic drugs, the medical expenses incurred by patients for routine treatment of palliative care are also higher at the self-financed expense. Patients who have already participated in the medical insurance experience find it difficult to obtain medical insurance. Many patients choose to give up treatment. .

At present, the list of Medicare medications is formulated for most people's common and serious diseases, while those for rare diseases are not included.

A Hebei netizen named “Laoerji” said that he had a rare disease—pulmonary arterial hypertension. The curative effect of the imported drug “All-Court” medical insurance does not require reimbursement. His three-month drug fee would be 5.8 Million yuan, year after year to eat more than 20 million. Pulmonary hypertension is not yet curable and can only be controlled with medication.

Many countries in the world have formulated and promulgated laws and regulations concerning rare diseases, providing legal basis for access to medical assistance and social security for patients with rare diseases. In recent years, there have been continuous recommendations and proposals on rare diseases in the two sessions of the country and the local two sessions. These proposals and proposals involve the establishment of a definition of rare diseases as soon as possible, the establishment of a national medical system for rare diseases, the initiation of medical assistance for patients with rare diseases, and the development of rare Disease Prevention Act etc. Some of these recommendations have been or are being accepted and adopted by related departments and local governments. Some regions have also made useful attempts and achieved initial results in the medical and social security of certain kinds or rare diseases. However, the progress of the construction of a national medical insurance system for rare diseases is still slow.

Many medical experts also use various opportunities to make appeals on various occasions. Professor Jing Zhicheng, a pulmonary vascular disease diagnosis and treatment center of Shanghai Lung Hospital, is one of them.

Jing Zhicheng said that the public is highly concerned about leukemia, uremia, and other diseases. Now the country has also included many such diseases, including cancer, into health insurance, but there are few concerns about rare diseases. In fact, some diseases that enter the national health insurance, even if they are treated free of charge, will not be able to prolong the patient's life if they cannot improve. For example, lung cancer, even if the free treatment life is very limited, but the patients with pulmonary hypertension can survive as long as the treatment, the more formal treatment can prolong the life of the patient, and the quality of life is high, but if not timely treatment, they usually only Two or three years of life.

Jing Zhicheng said that since China has not yet formulated relevant laws for rare diseases to protect its basic rights, patients with pulmonary hypertension are not as physically disabled or have obvious external features as those with osteogenesis imperfecta, and they cannot follow the handicapped. Treatment enjoy social care and policy care.

Despite the slow progress, Jing Zhicheng was not discouraged. He said that as long as there is an opportunity, he will continue to appeal for the rights and interests of patients, because only institutional guarantees can bring hope to more patients.