The number of rare diseases in China is about 20 million. Diagnosing and treating rare diseases is not only a medical issue, but also a social issue.

  Establish a safety net for the prevention and treatment of rare diseases

  Continuous swelling of lymph nodes throughout the body, sudden weight loss, fatigue, and dyspnea are common symptoms of Casterman’s disease. Unsteady walking, swaying, and inability to hold things are likely to be suffering from spinocerebellar co-existence. Disorders; children who are not born long, their eyes are always moving back and forth quickly, developmental delays, cognitive impairment, and may suffer from Peme’s disease... These are diseases that people rarely hear about and have almost never seen. They are called rare disease.

  China has a large population, and the number of rare diseases in China is about 20 million.

Illness is rare, love is always there.

Issued the first catalog of rare diseases, established a national coordination network for diagnosis and treatment of rare diseases, carried out direct reporting of rare disease cases, and issued guidelines for diagnosis and treatment of rare diseases... In recent years, China has continued to consolidate the basis for the guarantee of rare disease diagnosis and treatment policies.

  Experts say that doing a good job in the diagnosis and treatment of rare diseases is of great significance to improving the health of the whole people and building a healthy China.

The whole society should work together to build a safety net for the prevention and treatment of rare diseases so that patients with rare diseases can receive more care.

"Everyone is thinking of a way, try to get a few hours early"

  "Jin Yan is passing through the most difficult moments of her life (everyone has some difficult moments to pass. Faced with this moment of fear, loneliness, hardship, and it seems that only suicide can be liberated, we have repeatedly prayed for the great time, Ask it to accelerate its own gear so that it can take us away from the present...)"

  This is the beginning of the novel "Wake me up at nine in the morning".

These sentences are more like writer A Yi's inner monologue about his physical state.

One day in 2012, just as he was halfway through the writing of this novel, he suddenly coughed up blood and had difficulty breathing.

  In order to treat the illness, he moved to many hospitals and checked almost all items, but his condition became more and more serious. He even couldn't do without a ventilator, and he would have a fever after walking a short distance.

  After several years of tortuous treatment, Ah Yi's disease was finally diagnosed in Peking Union Medical College Hospital-Casterman's disease.

This is a rare disease with an incidence of only one in hundreds of thousands. It was included in the first list of rare diseases in China in 2018.

  "This is a rare disease whose etiology is not yet clear, and it is not easy to diagnose it." Zhang Lu, deputy chief physician of the Department of Hematology, Peking Union Medical College Hospital, participated in the diagnosis and treatment of A Yi's condition.

He said that at that time, almost all specialists in the internal medicine department of the hospital were present, with more than a hundred people.

After discussion, everyone decided to follow Casterman's disease treatment.

  "In the face of illness, what I can do is to use my career and life to regain my vitality little by little." Now, after systemic treatment, Ah Yi no longer depends on the ventilator and can write every day.

As new drugs such as stuximab start to undergo clinical trials in China and are expected to be officially introduced into the country, patients with Casterman's disease have hope.

  It is estimated that there are about 20 million patients with rare diseases in China.

As the country gradually attaches importance to the diagnosis and treatment of rare diseases, more and more patients have regained hope.

For some patients with rare diseases who are facing "there are drugs abroad but no drugs in China", reducing the waiting time for the introduction of new drugs is their greatest expectation.

  Three years ago, 4-year-old Xiaofan (a pseudonym) suddenly had a stomachache. After many examinations and treatments, Xiaofan was diagnosed with neuroblastoma.

This kind of rare disease mostly occurs in children under the age of 15. It is different from some chronic rare diseases. As a type of malignant tumor, its disease progresses rapidly, the degree of malignancy is high, and the treatment is difficult, so it is often called "the king of childhood tumors." .

  Xiaofan's attending doctor and director of the Department of Pediatric Hematology and Oncology of Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Yuan Xiaojun, used chemotherapy and radiotherapy, but the results were not good.

After research, she believes that a foreign drug named "Datuximab β" in the country's first batch of clinically urgently needed overseas drugs may be effective, but the drug has not yet been officially approved in China.

  In order to allow children to take medicine as soon as possible, a relay of life involving the government, clinical experts, and enterprises began: Yuan Xiaojun’s hospital applied for medicine to the Hainan Boao Lecheng International Medical Tourism Pilot Zone.

The drug was introduced by BeiGene, in collaboration with all parties, and finally obtained approval in a short period of time.

Liu Zhefeng, deputy director of the Lecheng Pioneer District Administration Bureau, and his colleagues adopted a minimalist approval system and quickly completed the special approval for the introduction of the drug.

In November 2020, in the pilot zone, Xiaofan became the first child successfully infused with the drug in a hospital in mainland China.

After several courses of treatment, Xiaofan's condition has now been controlled.

Xiaofan's successful attempt has brought hope to more families with children.

As of May this year, 16 patients have used this drug in Hainan.

  "The process of opening up this'green channel' is very tortuous, because it is transnational, trans-company, trans-government, trans-hospital. But thinking that all this is to save a living life, everyone is thinking of a way. Hours are good," Yuan Xiaojun said.

  "Facing problems such as difficulty in seeing a doctor, expensive medical treatment, difficult and expensive medication, etc."

  One day in 2003, the mother of Jun Lai (a pseudonym) was hit by the window glass upstairs, causing blood to flow all over the floor.

After a few months of treatment and bed rest, Junlai's mother seemed to have a poor balance-she stumbled while walking and often felt dizzy.

Later, Junlai's mother was diagnosed with ataxia caused by cerebellar atrophy, which was difficult to cure.

  Over the next ten years, Jun Lai watched his mother go from being healthy to walking with a walker, then to using a wheelchair, until she was completely bedridden.

More unfortunately, Junlai was also confirmed to carry the disease-causing gene.

This untimely bomb in his body once caused Jun Lai to fall into deep depression. Fortunately, he was actively facing life under the guidance of a doctor.

  In fact, there are many rare disease families in the world who are suffering like Junlai's family.

It is estimated that there are more than 7,000 rare diseases in the world, and the patient population is about 200 to 400 million people.

Due to factors such as heredity, many patients develop the disease at birth or in their infancy. They need to fight the disease throughout their lives and face many difficulties in life.

  First, it is difficult to diagnose.

Diagnosis of rare diseases is difficult due to complex symptoms and rare cases.

In the United States, it takes an average of about 7 years for each patient to be diagnosed by 8 doctors two or three times before being diagnosed.

A previous survey of more than 20,000 Chinese patients by the China Rare Disease Alliance showed that 42% of the patients said they had been misdiagnosed.

For the diagnosis and treatment of rare diseases, early detection and early intervention are the best treatment approaches.

  The second is the lack of doctors and medicines.

Another problem caused by the scarcity of cases is that there are fewer doctors than patients who can diagnose and treat rare diseases.

A survey of more than 38,000 Chinese medical workers showed that 60.9% of the respondents said they had heard of but did not know about rare diseases.

Due to lack of understanding, the progress of related research and drug development is very slow.

Statistics show that there are very few drugs that can cure rare diseases, and only 5%-10% of known rare diseases have drugs that can be treated.

Some drugs that rely on imports are expensive and put tremendous pressure on patients' families.

  Once again, the patient's living condition is poor.

As many rare diseases are chronic diseases, the quality of life of most patients is affected, and they encounter obstacles in medical care, education, employment, and social integration, and even fall into difficulties in their lives.

  "To a certain extent, the diagnosis and treatment of rare diseases is not only a medical problem, but also an emerging social problem." An industry expert said that the current diagnosis and treatment of rare diseases faces four aspects: difficult to see a doctor, expensive to see, difficult to use, and expensive to use. The problem can be summed up as the issue of medical accessibility and medication accessibility, and the two influence each other.

It should be viewed and addressed from an ethical perspective and uphold the concept of fair value.

  "Illness brings pain, but I sing for it"

  Release of China's first batch of rare disease catalogues, establishment of China Rare Disease Alliance, establishment of a national rare disease diagnosis and treatment collaboration network, newly revised drug management law, opening of a green channel for review and approval of new drugs for clinically urgently needed rare diseases, and inclusion of dozens of rare disease drugs into the country Medical insurance catalog, online rare disease registration system, release of rare disease diagnosis and treatment guidelines... In recent years, China's policy guarantees for caring for patients with rare diseases have been accelerating.

  How to further improve the accessibility of rare disease protection?

Experts suggest that, for rare diseases that are curable and currently available with medicines, focus should be placed on the availability of medicines.

For example, further rationalize the supply chain management of drug research and development, listing, and supply; improve the construction of multi-level security systems such as social medical insurance, commercial insurance, social assistance, and social charity; Reform and innovation in aspects such as affordability, selectivity, and compliance with chronic disease management, scientifically adjust the structure of resource allocation.

For intractable and rare diseases, the focus should be placed on equipment, consumables, assistive devices, and life care security, so as to reduce the suffering and burden of patients and improve their quality of life.

  It is equally important to insist on institutional innovation.

"Once the medication is clarified and the overseas circulation channels are unblocked, the drugs that used to take nearly 60 days to be introduced can now be approved in one and a half days." Liu Zhefeng said that the minimalist approval system fully implemented in Lecheng Pioneer District originated from Hainan. Free trade port policy support, the state grants special policies such as chartered medical care, chartered research, franchising, and chartered international medical exchanges in the pioneer zone, and has advantages such as real-world data research pilots.

In order to effectively alleviate the high cost of clinical special-needs drugs, the pilot zone also launched "Global Special Drug Insurance", covering 49 domestic unlisted drugs and 21 domestic new anti-cancer drugs outside of social security; special medical insurance will be launched in the future to include medical devices among them.

  700,000 yuan of Nosinasheng sodium injection, Alzin, which costs more than 2 million yuan per year... In the past, the sky-high price of "life-saving medicine" always triggered public nerves.

As people from all walks of life explore the multi-party co-payment model, most rare disease treatment drugs are gradually included in the national medical insurance catalog. Some places try to include rare disease drugs into the scope of serious disease insurance. Commercial insurance and funds involving rare diseases are gradually increasing...Patients pay The burden has been effectively reduced.

  In terms of improving the multi-party co-payment model of the multi-level security system, experts suggest that a more effective incentive mechanism should be established and improved, and the government, market, society and other forces should be integrated.

For example, corresponding incentives can be provided in terms of new drug research and development, intellectual property protection, pricing mechanism, and priority review and approval.

  The development and introduction of rare disease drugs should receive further support.

Liu Yan, vice president of BeiGene, said: “Compared with common tumors, some rare diseases have a small population of patients, but in order to help these patients take medicines, a lot of research and development time, funds and energy are required. With the government Special policy support helps streamline the approval process, allowing more patients to use new drugs earlier."

  The emergence of patient organizations allows patients to get more comfort.

At the end of April, the "Casterman House", an organization for patients with Casterman's disease, was established in Beijing.

Lin Lin, who was looking for patients on Baidu Tieba with tears a few years ago, is now the leader of the organization.

"As a patient, in addition to treatment, I can do more to help more patients and make life more exciting." According to her plan, the organization will provide patients with disease science popularization, diagnosis and treatment information support, and actively build doctors and patients, Communication mechanism among patients and assist in the advancement of clinical trials of the disease, etc.

  "Illness brings pain, but I replied it with songs." In the stories told by many patients, rejuvenating from a difficult situation and finding hope are the bright themes.

They have always believed that with the concerted efforts of all parties, although illness is rare, love is always there.

  Reporter: Peng Xunwen