China News Service, Beijing, February 29 (Wei Xianghui) February 29 this year is the 17th International Rare Disease Day. There are currently more than 7,000 known rare diseases around the world, and "ALS" is one of them. .
There are 25,000 new cases of ALS in China every year.
A few days ago, China News Network's "The Great Doctor Is Here" column interviewed Fan Dongsheng, director of the Department of Neurology at Peking University Third Hospital. He bluntly said that "ALS" is a disease that "can only move forward, not backward."
Video: The great doctor is here | "Breaking the Ice" on ALS life
Source: China News Network
helpless disease
Amyotrophic lateral sclerosis (ALS).
In 2018, five departments including the National Health Commission jointly formulated the "First Batch Rare Disease Catalog", and ALS was included in it.
Fan Dongsheng is one of the earliest authoritative experts engaged in clinical research and diagnosis and treatment of ALS in China. He has been practicing medicine for more than 30 years.
In front of his clinic, there are patients from all over the country. They often hold thick medical records of diseases, hoping to get a definite answer here.
"It can be said that there are real ALS and some fake ones." Fan Dongsheng explained that the so-called "true ALS" refers to a clear diagnosis of neurological disease. The loss of upper and lower motor neurons leads to the gradual gradual decline of the bulbs, limbs, and chest muscles. Weakness and atrophy, while "pseudo-ALS" shows muscle atrophy, but the cause may be caused by endocrine, rheumatoid and other problems.
In fact, the cause of ALS is still unclear, but scientific research shows that it is related to genetics.
In the outpatient clinic, there are lucky "false ALS" and unfortunate "real ALS".
People suffering from ALS always maintain clear consciousness and good skin sensation, but they will gradually lose their ability to exercise until breathing stops.
Fan Dongsheng said that this is a disease that cannot be cured in the short term. Just like a pawn crossing a river, it can only move forward, not backward.
"Most of the diagnosed patients with ALS are in a helpless state." He said that extending the patient's survival time is currently the most realistic goal.
Fan Dongsheng's clinic has patients from all over the country.
Photo by Wei Xianghui
higher pursuit
According to statistics, the incidence of ALS in China has increased linearly since the 1960s, and with the aging trend, the number of patients will continue to increase year by year.
Most of the patients who come to Fan Dongsheng's clinic come as a family.
"More than 20,000 patients means that more than 20,000 families have been involved." He said that doctors are a profession that deals with people.
Rare disease patients are a special group and require more support from doctors’ professional knowledge, and the trusting relationship established between the two parties will be stronger.
In Fan Dongsheng’s view, “Rare diseases are not just surgical treatments. Doctors who enter this field will become the backbone of these patients. They cannot just be satisfied with treating doctors as a profession, but must have more High pursuit.”
In 2004, led by Fan Dongsheng, a number of experts including Peking University Third Hospital, Peking Union Medical College Hospital, Shanghai Huashan Hospital, and Shanghai Changzheng Hospital jointly initiated the establishment of the ALS Collaboration Group of the Neurology Branch of the Chinese Medical Association. Over the years, He has been committed to filling the gap in epidemiological investigation of the current status of ALS diagnosis and treatment in China.
In 2014, Peking University Third Hospital launched the “Technology Assistance for ALS Public Welfare Project” and developed a molecular genetic testing kit for ALS patients.
In 2017, Fan Dongsheng, as a representative of the Beijing Municipal People's Congress at the time, specifically spoke out for rare patients. He suggested that Beijing take the lead in piloting the establishment of special subsidies for some types of rare disease patients.
He said that from a professional perspective, it is the responsibility of doctors to use effective medicines on patients.
In recent years, Fan Dongsheng has been leading a team to conduct research related to ALS.
According to him, it is currently being combined with traditional Chinese medicine and has achieved exciting results. After the article was published, an application was submitted to the Drug Evaluation Center of the State Drug Administration.
Fan Dongsheng is conducting ward rounds. Photo by Wei Xianghui
meaning of life
What is the most meaningful thing in life?
Cai Lei made this a major topic of thought after suffering from ALS.
Cai Lei has had many auras: former vice president of JD.com, graduate tutor at many well-known universities, promoter of electronic invoicing in China... But now the identity he values most is that of an ALS fighter.
In the autumn of 2019, Fan Dongsheng met Cai Lei in the outpatient clinic.
Among so many patients, Cai Lei is a special one.
He is not only a patient, but also a "fighter" for life.
When he was first diagnosed, Fan Dongsheng was optimistic about Cai Lei's condition, but the subsequent progress was unexpected. The reason was that he was under long-term dual work pressure of both mental and physical strength, and continued stress had a negative impact on the condition of ALS. Very disadvantageous.
Four years have passed since he was diagnosed with ALS. Cai Lei said that he has achieved a dream that he might not have been able to achieve in 40 years, which is to make rare diseases no longer a neglected corner.
He invested in establishing the world's largest scientific research platform for ALS patients and launched a public welfare funding plan.
He also united more than 1,000 patients to donate brain and spinal cord tissue for medical research.
He said in public more than once, "I will fight until the last day, until the day I die."
Fan Dongsheng said frankly that Cai Lei's illness has greatly promoted scientific research on ALS.
He used practical actions to promote the research and development of new drugs, and his call for patients to donate their bodies was a landmark event.
"When you are not facing life and death, you may follow the conventional career development process and think about how to develop your career well, make more money, and gain more wealth for yourself. But this will no longer be the case after you become ill, and you will think about what is The most meaningful things in life are to devote this short time to these things," Cai Lei said.
Not long ago, Fan Dongsheng's joint research team discovered the correlation and rare pathogenic mutations of the CLCC1 gene in the Chinese amyotrophic lateral sclerosis (ALS) cohort, and for the first time explored the mechanism of CLCC1 related functional abnormalities in the endoplasmic reticulum of cells. , providing a new research direction for the treatment of ALS.
He mentioned that in the future, more advanced technologies or drugs will be applied to the treatment of ALS to prolong patients’ lives while improving quality.
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