70% of rare disease patients develop childhood onset
Today is the 15th International Rare Disease Day, and this year’s theme is “Rare Together is Better Tomorrow”.
At present, there are more than 7,000 rare diseases known worldwide, with more than 300 million rare disease patients, and more than 20 million rare disease patients in China. 70% of rare diseases have onset in childhood, and childhood diagnosis is critical.
Professor Lv Junlan, Department of Neurology, National Children’s Medical Center, has been diagnosing the rare disease spinal atrophy for more than 30 years. According to the incidence rate, there are nearly 1,000 new cases of this rare disease in my country every year.
Lv Junlan, chief physician of the Department of Neurology, Beijing Children’s Hospital, National Medical Center: Rare disease patients are different from ordinary patients , SMA (Spinal Atrophy) patients are particularly prominent, these children are very small, he will have serious complications of this, such as poor breathing, complicated by pneumonia.
95% of rare disease patients can only be treated symptomatically. Because of their rarity, people’s awareness of these diseases is very limited, the clinical misdiagnosis rate is high, and diagnosis is very difficult. According to current research, genetic inheritance accounts for 80% of rare disease patients.
Wang Ke, Chief Physician of the Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Guangxi Medical University: Rare diseases are placed on our 14 In a country with a population of 100 million, these rare diseases are actually not so rare in many cases.
Wang Hui, Director of the Second Department of Nephrology, Beijing Children’s Hospital, National Medical Center: In fact, many of our patients are caused by single gene mutations Although it is called rare childhood kidney disease, it is actually not uncommon in terms of absolute population ratio in our country.
Rare disease diagnosis time has been shortened from the past 4 years to 4 weeks
Recently, the National Health Commission held a meeting at Peking Union Medical College Hospital to further strengthen the management of rare diseases in my country and improve the diagnosis and treatment of rare diseases level.
At present, the diagnosis time of most rare diseases in my country has been shortened from the past 4 years to 4 weeks, which greatly reduces the medical burden of rare disease patients.
In recent years, relevant state departments have continued to promote the diagnosis and treatment of rare diseases. my country has issued the first batch of rare disease catalogues in 2018, clarified 121 rare diseases, and formulated diagnosis and treatment guidelines for all diseases in the catalogue one by one. In 2019, the National Health Commission entrusted Peking Union Medical College Hospital to lead the establishment of a rare disease diagnosis and treatment collaboration network with 324 hospitals participating, establishing a “one-stop treatment plan”, and basically forming a three-level prevention and control system for rare diseases. After two years of hard work, the diagnosis time for most rare diseases has been shortened from an average of 4 years to 4 weeks, which has greatly reduced the medical burden of rare disease patients.
Due to the particularity of rare diseases, the average hospital stay and medical expenses of patients far exceed those of ordinary patients. It is recommended to introduce policies for the assessment indicators of rare diseases and other intractable diseases in public hospitals, and at the same time increase basic research and carry out multidisciplinary research.
Zhang Shuyang, President of Peking Union Medical College Hospital: We will continue to make efforts in terms of policy, policy coordination and interconnection. Research and development requires our own pharmaceutical companies, and we must continue to make efforts in the research and development of new drugs. How to fundamentally reduce costs, we need our own domestic preparations and drugs.
Multidisciplinary diagnosis and treatment Every small group cannot be given up
At the National Children’s Medical Center Rare Disease Consultation Center, every Wednesday afternoon, children with rare diseases from all over the country are consulted. In 2021 alone, more than 70 children with rare diseases will be diagnosed. For children with these rare diseases, the hospital will provide effective symptomatic treatment according to the condition.
Zhang Guojun, Secretary of the Party Committee of Beijing Children’s Hospital: We consulted a total of 78 difficult and rare patients last year, and only 4 cases are not available now. A clear diagnosis. About 65% of patients can improve their condition, and about 10% can stabilize their condition.
The drug protection work for patients with rare diseases has attracted much attention. At present, there are more than 50 kinds of drugs for rare diseases on the market in China, of which more than 40 kinds have been included in the national medical insurance drug list. Through the access negotiation of the medical insurance drug catalogue, the price of drugs for rare diseases has been greatly reduced, and the burden on patients has been effectively reduced.
Zhang Guojun, Secretary of the Party Committee of Beijing Children’s Hospital: We also hope that the state will support us in the future to further support some existing Whether the drug can be explored for new treatments, or to explore some new drugs, will be further studied in this regard. Because our country has a large base, if we canIf there are enough new drugs, they may be available, which will benefit more rare disease patients.