February 29th of this year marked the 17th International Rare Disease Day. Currently, there are over 7,000 known rare diseases worldwide, with "Amyotrophic Lateral Sclerosis (ALS)" being one of them.
In China, there are approximately 25,000 new ALS cases each year. Recently, China News Network's program "The Big Doctor Is Here" interviewed Dr. Fang Dongsheng, Chief of Neurology at Peking University Third Hospital, who bluntly stated that ALS is a disease where "only move forward, never backward."
A Perplexing Disease
ALS, also known as Lou Gehrig's disease, was included in the "First Batch of Rare Disease Catalog" jointly formulated by the National Health Commission and other five departments in 2018.
Dr. Fang Dongsheng is one of the foremost authorities in China on ALS clinical research and treatment, with over 30 years of medical experience. Outside his clinic, patients from all over the country often come with thick medical records, hoping to find definitive answers here.
"ALS can be genuine or not," explained Dr. Fang. "Genuine ALS" refers to a clear diagnosis of a systemic neurological disease where upper and lower motor neurons loss leads to progressive weakness and atrophy of muscles in the limbs, trunk, and bulbar region. On the other hand, "false ALS" may present with muscle atrophy, but the cause could be related to endocrine or rheumatic issues.
In fact, the exact cause of ALS remains unclear, although scientific research indicates a genetic component. In his clinic, there are both fortunate cases of "false ALS" and unfortunate cases of "true ALS."
Individuals with ALS maintain clear consciousness and intact skin sensation but gradually lose motor function until respiratory failure occurs. Dr. Fang described it as a disease that cannot be cured in the short term, much like a soldier crossing a river - only moving forward, never backward.
"Diagnosed ALS patients often feel helpless," he stated, emphasizing that prolonging patients' survival is currently the most realistic goal.
A Higher Pursuit
Statistics show that since the 1960s, the incidence of ALS in China has been linearly increasing, and with the aging population, the number of patients will continue to rise.
Most patients who visit Dr. Fang's clinic come as families. "Over twenty thousand patients mean over twenty thousand families involved," he remarked, highlighting the special nature of rare disease patients who require doctors' expertise and build stronger trust relationships.
According to Dr. Fang, "Rare diseases cannot be treated with a simple surgery. Doctors entering this field become pillars of support for these patients and should aim for higher pursuits, not merely treating it as a profession."
In 2004, led by Dr. Fang, the Chinese Medical Association Neurology Branch ALS Collaboration Group was established, involving experts from four hospitals including Peking University Third Hospital, Peking Union Medical College Hospital, Shanghai Huashan Hospital, and Shanghai Changzheng Hospital. This group has been devoted to filling the epidemiological research gap in ALS diagnosis and treatment in China.
In 2014, Peking University Third Hospital initiated the "Technology-Assisted ALS Charity Project" and developed a molecular genetics testing kit specifically for ALS patients.
In 2017, as a delegate of the Beijing Municipal People's Congress, Dr. Fang specifically voiced concerns for rare disease patients and proposed pilot programs in Beijing to provide special subsidies for certain types of rare disease patients. He stressed that it's a doctor's responsibility to advocate for the effective use of drugs for patients.
In recent years, Dr. Fang and his team have been conducting ALS-related research. He disclosed that they are currently combining traditional Chinese medicine with modern approaches, yielding promising results. They have submitted applications to the National Medical Products Administration for drug evaluation after publishing their findings.
The Meaning of Life
What is the most meaningful thing in life? This became a significant topic for contemplation for Cai Lei after being diagnosed with ALS.
Cai Lei has worn many hats in his life: former Vice President of JD.com, extracurricular supervisor at several prestigious universities, advocate for electronic invoicing in China, and now, he cherishes his identity as an ALS fighter the most.
In the fall of 2019, Dr. Fang met Cai Lei in his clinic. Among the many patients he had seen, Cai Lei stood out as particularly unique. He wasn't just a patient but a "fighter" for life.
Initially, Dr. Fang's prognosis for Cai Lei was relatively optimistic, but the progression later took an unexpected turn. This was due to the adverse effects of prolonged stress from both intellectual and physical work pressures.
Since being diagnosed with ALS four years ago, Cai Lei said he has achieved a dream that might take forty years for others - making rare diseases no longer a neglected corner.
He invested in establishing the world's largest research platform for ALS patients and initiated public assistance programs. He also rallied over a thousand fellow patients to donate brain and spinal cord tissues for medical research. He has repeatedly stated in public, "I will fight until the last day, until the day of my death."
Dr. Fang admitted that Cai Lei's illness has had a significant impact on ALS research. He has actively promoted the development of new drugs and his call for patients to donate their bodies is a milestone event.
"When you're not facing life and death, you might think about conventional career development, how to excel in your career, earn more money, and accumulate more wealth. But after falling ill, your priorities change, and you start thinking about what is the most meaningful thing in life and investing your limited time into those things," said Cai Lei.
Recently, Dr. Fang's research team discovered the correlation and rare pathogenic mutations of the CLCC1 gene in the Chinese ALS cohort, while also exploring the mechanism of abnormal endoplasmic reticulum-related functions of CLCC1 for the first time, providing a new research direction for ALS treatment.
He mentioned that in the future, more advanced technologies or drugs will be applied to ALS treatment, prolonging patient life while improving its quality.
