There are some diseases that not only the vast majority of ordinary people have never heard of, but even doctors rarely see a few cases in their lifetime, and even hundreds of cases all over the world. These diseases are commonly known as rare diseases, and the last day of February every year is International Rare Disease Day. There are about 20 million rare disease patients in my country, with more than 200,000 new patients every year.
Because of its rarity, many doctors and hospitals lack treatment experience, and many patients often do not know how many hospitals they have gone to, No matter how many times I checked and how many doctors I consulted, I couldn’t get a complete diagnosis after running for several years, let alone find an effective treatment plan. Because of the small number of patients, on the one hand, they suffer from insufficient research samples and research results, and on the other hand, they are worried about the small market. Most pharmaceutical companies are reluctant to invest too much in R&D for rare diseases. Even the price is surprisingly high. The current state of physical and mental exhaustion, the mountain of economic pressure, and the vague hope of healing are intertwined, causing many families with rare disease patients to suffer.
Life is the top priority, and saving the wounded is the duty. Don’t turn a blind eye because of rare diseases, and don’t ignore them because of lack of doctors and medicines, since 2018, relevant departments in China have made every effort to support the prevention and protection of rare diseases, and continue to promote the prevention and control of rare diseases. The “China Plan” has strengthened the confidence of rare disease patients in fighting against the disease, and brought light to the families of rare disease patients.
A disease is not missed, and a patient does not give up. Through the formulation of rare disease catalogues, the establishment of a national rare disease diagnosis and treatment collaboration network, and the establishment of the China Rare Disease Alliance, more and more rare disease patients have come under the spotlight, which has contributed to the promotion of rare disease diagnosis and treatment in my country. Strong support. In 2019, the National Health and Health Commission selected 324 hospitals with strong rare disease diagnosis and treatment capabilities and a large number of diagnosis and treatment cases to establish a national rare disease diagnosis and treatment cooperation network, and conducted relatively centralized diagnosis and treatment and two-way referrals for rare disease patients. Give full play to the leading role of high-quality medical resources and improve the comprehensive diagnosis and treatment capabilities of rare diseases in my country. As the national leading hospital of the National Rare Disease Diagnosis and Treatment Collaborative Network, Peking Union Medical College Hospital has registered 93 rare diseases in the National Rare Disease Direct Reporting System, involving more than 60,000 cases, and the average diagnosis time has been shortened from 4 years. for less than 4 weeks.
In addition to improving the ability of cooperation in diagnosis and treatment, it is necessary to “find a case and register a case”, so as to make the diagnosis and treatment as early as possible. The country is also building a multi-level rare disease protection mechanism. In terms of drugs for rare diseases, more than 40 of the more than 50 kinds of drugs currently listed in China have been included in the national medical insurance drug list, which greatly reduces the number of drugs for rare diseases such as teriflunomide, miglastat, and deuterotetrabenazine. price. The original price of 700,000 injections of the high-priced drug Nosinagen Sodium Injection has been reduced to about 33,000 yuan/injection after eight rounds of “soul bargaining” by the medical insurance department. It is estimated that the patient will pay 10,000 yuan/injection about. At the same time, through the fair and inclusive implementation of basic medical insurance, the improvement of supplementary medical security measures such as critical illness insurance, and the establishment of a solid line of defense for medical assistance, the burden of medical expenses for all insureds, including rare disease patients, has been effectively reduced.
Speaking from facts, the prevention and treatment of rare diseases in my country is still in its infancy, including the scope of rare diseases, treatment methods, drug research and development, etc., which are far from the needs of patients, and many rare diseases cannot be effectively treated. . But as rare disease experts and patients have expressed, we have taken a decisive step. As long as the country pays attention, there is hope. This is a master prescription for rare diseases. Fighting rare diseases requires determination, confidence and patience.
Source: Beijing Evening News reporter Jia Liang
Process editor: u028