Due to the extremely low incidence of rare diseases, the small number of patients and the scattered population, not only the general public has little understanding of rare diseases, but medical staff also lack awareness.
According to a survey by the China Rare Disease Alliance, nearly 70% of medical workers believe that they do not understand rare diseases, especially primary medical workers.
Most rare diseases require multi-disciplinary, inter-professional clinical experts and medical genetic experts to obtain accurate diagnosis.
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On March 12, the revised government work report was released.
In the supplementary and revised content of the government work report, "strengthening the protection of rare disease drugs" was revised to "strengthen the research and drug protection of rare diseases".
Rare disease patients generally face the dilemma of lack of doctors and medicines. For the more than 20 million rare disease patients and their families across the country, this means that their light of hope has been brightened.
After the National People's Congress and the National People's Congress, the whole society has paid more attention to the rare disease group. As a rare disease patient, Zhang Xiao also felt that the topic of rare diseases is less and less "rare".
Zhang Xiao, born in 1993, suffers from the rare disease mucopolysaccharidosis (type I), a lysosomal accumulation disease that cannot be cured at present. The most promising treatments are specific enzyme replacement therapy and gene therapy. The only treatment drug is a concentrated solution of Laronylase (trade name: Aerzan), which costs one or two million yuan per year.
Today, Zhang Xiao still maintains the height of her childhood. It is very difficult to wash her hair and wear socks by herself, and she has to walk carefully, but she has been running for the rare disease group all these years.
She always carries an empty Elzan vial with her.
"My goal is to use 'Elzan', I must try (use) 'Elzan' what it is like." For this goal, she has been saving money since junior high school.
"Myrrh also lived with the disease for 28 years, and did what a patient would do." Zhang Xiao believed, "the light is ahead."
Misdiagnosis and misdiagnosis are common
Misdiagnosis and delayed treatment are common for many rare disease patients.
As long as I can remember, the place where Zhang Xiao appears most often is the hospital.
From the large and small hospitals in her hometown of Shanxi to the Peking Union Medical College Hospital, her family took her young to seek medical treatment and medicine, and tried various diagnosis and treatment plans, but there was no improvement.
It was not until 1997 that Zhang Xiao was diagnosed with mucopolysaccharidosis (type I) in the Pediatrics Department of Peking Union Medical College Hospital.
When the family sent Zhang Xiao to the Pediatrics Department of Xiehe Hospital, the doctor in charge of the diagnosis was not easy: "It is rare for a MPS patient (age) to have such good intelligence." In patients with storage diseases, the nervous system, heart and other organs will be greatly affected, and many of them "absent" in infancy.
Zhang Xiao's doctor, Qiu Zhengqing, deputy chief physician of Pediatrics at Peking Union Medical College Hospital, recalled that many rare disease patients did not know what disease they had at first.
"(Many children) were held by their parents and saw eight or nine doctors before they were finally diagnosed." Taking mucopolysaccharidosis as an example, "it is difficult for the first-time doctor to recognize the disease because of the initial symptoms. People don't know enough about this disease."
Because most rare diseases are hereditary diseases, the early diagnosis of rare diseases such as mucopolysaccharidosis did not take a step forward until the popularization of next-generation gene sequencing technology.
But technological progress has not always kept up with the rate at which rare disease patients develop.
Qiu Zhengqing remembers that many parents of children went all the way to the Pediatrics Department of Pediatrics, and they stopped insisting after they were diagnosed with a rare disease that was incurable.
"Many parents have heard that their child has a rare disease, and they basically never come back. If they come back, they will have another child. When asked, the child in front is either dead or lying in a hospital bed."
Yang Linhua, deputy to the National People's Congress and director of the Institute of Hematology at Shanxi Medical University, said that about 80% of rare diseases are caused by genetic factors. Hospitals and clinicians with diagnostic skills and capabilities are relatively concentrated in the third-class hospitals in Beijing, Shanghai, Guangzhou, Shenzhen and some provincial capitals. Many medical institutions and clinicians in third- and fourth-tier cities lack rare disease-related expertise and clinical experience, and technical facilities are limited. It is very difficult to independently diagnose rare diseases, and it is difficult to do in-depth basic research.
Therefore, traveling long distances to get a diagnosis in a foreign hospital is almost the norm for patients with rare diseases.
According to the "2020 Comprehensive Social Survey of Rare Diseases in China", 96.6% of Beijing patients and 93.8% of Shanghai patients can be diagnosed locally, while 100% of Tibetan patients and 83.7% of Inner Mongolia patients need to go to hospitals outside the province for diagnosis.
On the other hand, because rare diseases involve multiple disciplines such as blood, orthopedics, nerves, kidneys, respiration, skin, etc., the symptoms are complex, the cases are rare, the related research is less, and there is a shortage of doctors with the ability to diagnose rare diseases. Limitations, missed diagnosis and misdiagnosis are common.
According to a survey by the China Rare Disease Alliance, 42% of rare disease patients have been misdiagnosed. The average time from the first visit to the diagnosis is 0.9 years. If the patients who were diagnosed in the same year are not included, the average rare disease patient needs 4.26 years. to be diagnosed.
Doctors treating rare diseases are more 'rare'
Due to the extremely low incidence of rare diseases, the small number of patients and the scattered population, not only the general public has little understanding of rare diseases, but medical staff also lack awareness.
According to a survey by the China Rare Disease Alliance, nearly 70% of medical workers believe that they do not understand rare diseases, especially primary medical workers.
"The difficulty of rare diseases now is not only difficult diagnosis, treatment, and medication, but the core problem is that the incidence rate is very low, and doctors who treat rare diseases are even rarer than rare disease patients." As a front-line work experience for nearly 40 years The doctor, Yang Linhua, said that solving the problem of rare diseases requires multiple efforts and a set of "combination punches".
Yang Linhua proposed that by strengthening the construction of regional cooperation platforms (such as medical alliances, pharmacy service platforms, etc.), help and guide grassroots doctors to improve their ability to diagnose and treat rare diseases.
She believes that it is very important to popularize the knowledge of rare diseases for grass-roots doctors. "If basic research is further improved, once the examination results are reported, grass-roots doctors will think of rare diseases, and they can diagnose and treat early, so as to avoid delays in diagnosis or problems. Complications of reversal." There have been cases where the diagnosis was delayed for many years, which was very detrimental to the patient's later treatment.
Specifically, she suggested establishing rare disease diagnosis and treatment centers at the national and regional levels, and building a regional collaborative network for rare disease diagnosis and treatment to speed up the construction of a rare disease diagnosis and treatment system.
"Most rare diseases require multi-disciplinary, inter-professional clinical experts and medical genetic experts to obtain accurate diagnosis."
Some rare diseases show more and more clinical symptoms and signs as they grow and develop, and some diseases even have no symptoms and signs in the early stage, which makes it very difficult for doctors to diagnose.
Therefore, in terms of talent training, Yang Linhua believes that more knowledge of rare diseases should be popularized, and some rare disease textbooks should be added to medical courses, or elective courses should be set up, so that future doctors can "have more strings in their minds".
It is reported that very few medical schools currently offer courses related to rare diseases. "They don't teach them in the classroom, and most medical students have no concept of this." A medical professor once told Yang Linhua that until he suffered from a rare disease, he went to check the information. I'm just starting to learn a little bit about rare diseases.
Let rare disease treatment no longer lack medicine
"Medicine is a process of continuous exploration, improvement and innovation. It should take into account both research and development and drug protection." Yang Linhua believes that my country has the world's largest rare disease group and has a huge advantage in case resources.
To promote and strengthen basic and clinical research on rare diseases at the national level, relevant data should be integrated and shared to comprehensively improve the level of diagnosis and treatment of rare diseases in my country.
"Rare diseases must be seen by rare and more professional doctors." Qiu Zhengqing said that the diagnosis and treatment and research of rare diseases today are very different from more than 20 years ago.
In the past, only old experts from top hospitals in the country dared to make a clear diagnosis. Now, through the rare disease diagnosis and treatment cooperation network established in recent years, doctors across the country can diagnose, communicate, and train online. "It's progress is still very gratifying. ".
In 2019, the National Health and Medical Commission selected 324 hospitals with strong rare disease diagnosis and treatment capabilities and a large number of diagnosis and treatment cases, and established a national rare disease diagnosis and treatment cooperation network to provide relatively centralized diagnosis and treatment and two-way referrals for rare disease patients. Peking Union Medical College Hospital It is the national leading hospital of the National Rare Disease Diagnosis and Treatment Collaborative Network.
In February this year, Zhang Shuyang, president of Peking Union Medical College Hospital and deputy director of the National Rare Disease Diagnosis and Treatment Collaboration Network Office, said at the meeting that the hospital had registered 93 rare diseases in the national rare disease direct reporting system, involving more than 60,000 rare diseases. cases.
Jiao Yahui, director of the Medical Administration and Medical Administration Bureau of the National Health and Health Commission, once said that the next step is to rely on the National Rare Disease Diagnosis and Treatment Cooperation Network to continue to implement the two-way referral and remote consultation mechanism, build a national medical alliance for rare diseases, and gradually explore the treatment of rare diseases. The diagnosis and treatment situation is included in the hospital's grade review and performance assessment, and guides large hospitals to return to the functional orientation of mainly diagnosing difficult and rare diseases.
During the National People's Congress and the National People's Congress this year, Mao Zongfu, a representative of the National People's Congress and director of the Wuhan University Global Health Research Center, told reporters that the research field of rare diseases is broad, including strengthening the research on the comprehensive prevention and treatment model of rare diseases, strengthening the research on disease screening and diagnosis technology, and strengthening the innovative drugs and clinical diagnosis and treatment of diseases. Standardize research and strengthen research on rare disease services and financing systems.
In addition to diagnosis and treatment and research, this year's government work report also mentioned the need to strengthen the protection of drugs for rare diseases.
In the newly adjusted national medical insurance list in December 2021, a total of 7 high-value drugs for rare diseases have been included in the medical insurance list, including the original price of more than 700,000 yuan, a drug for the treatment of spinal muscular atrophy (SMA). Sodium Injection.
This is the first time since 2016 that a high-value rare disease drug has been included in the medical insurance list.
Up to now, more than 60 drugs for rare diseases have been approved for marketing in China, of which more than 40 have been included in the national medical insurance list, involving 25 diseases.
Considering that the country has not established a unified drug protection mechanism for rare diseases, and the prices of rare disease drugs are generally too high, which is unaffordable for ordinary families, Yang Linhua suggested that for "high-value" rare diseases that generate high medical expenses, adopt "medical insurance + charity". + Civil Affairs + Insurance" multi-party payment mechanism.
"I believe that the spring of rare disease patients will surely come, and more and more rare disease patients will receive better diagnosis and treatment."
China Youth Daily, China Youth Daily reporter Wang Lin, trainee reporter Wei Wan Source: China Youth Daily