"Separating the wards, allowing rare disease patients to find places to see patients and doctors to see them, can provide more targeted treatment for rare disease patients, and also help us follow up rare disease patients."
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▲On November 1, 2021, the Department of Medical Genetics/Rare Disease Diagnosis and Treatment Center was established in the Second Hospital of Zhejiang University. Wu Zhiying (front row center) Yu Hao (back row second from left) and others took a group photo. Courtesy of respondents
Beijing News reporter Li Bingjie Editor Hu Jie Proofreader Wu Xingfa
On the 6th floor of Building 7 of the Second Affiliated Hospital of Zhejiang University School of Medicine (hereinafter referred to as the Second Affiliated Hospital of Zhejiang University), the U-shaped corridor strings together 12 wards, and 23 patients with different types of rare diseases live here, most of them cannot use their legs like normal people, and those with milder conditions can stagger forward, and those who are more seriously ill need to use wheelchairs. Among them, there are also many patients with shaky fingers and vague speech.
This is the Medical Genetics Department/Rare Disease Diagnosis and Treatment Center of the Second Hospital of Zhejiang University, formerly known as the Fifth Ward of the Department of Neurology, which was established on November 1, 2021, and is the only rare disease ward in China, where the beds are tight, as long as someone is discharged, someone will be admitted immediately. Armrests are mounted on one side of the wall, and a muscle biopsy room and an electromyogram room are specially configured.
Professor Wu Zhiying, 55, director of the Department of Medical Genetics at the Second Hospital of Zhejiang University, is the initiator and person in charge of the ward. Wu Zhiying has experienced the process of rare diseases being gradually seen, and has also witnessed the impact of some rare disease treatment drugs on patients after they are admitted to medical insurance.
Wu Zhiying said that for these medical staff, there is no particularly eye-catching story in the rare disease ward, "because this is what happens to us every day." We hope that people can look at rare diseases with a normal heart, and only in this way can these patients get real justice. ”
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Patients
Liu Mo (pseudonym), a 25-year-old from Hangzhou, was admitted to a ward on February 23, suffering from spinal muscular atrophy (SMA), atrophy of the muscles of the lower limbs, unable to move freely, and when he did the examination, he needed to support the bed with a somewhat weak hand, and then use his father's strength to transfer his entire body to a wheelchair. SMA is a hereditary neuromuscular rare disease, with an incidence of about 1/6,000 to 1/10,000 in newborns in China, and there are currently more than 30,000 patients in the country.
Liu Mo was diagnosed at the age of 12, "At that time, there were basically no doctors and no drugs in China, I went to other provinces to see a doctor, and the doctor said that the whole hospital was the only case of mine." "There is no other way, all Liu Mo can do is wait."
In 2016, Northinalsan sodium was approved in the United States, and in 2019, it was approved by the State Food and Drug Administration, becoming the first drug in China to treat spinal muscular atrophy, and on December 3, 2021, it entered the adjusted national medical insurance drug list, from 700,000 yuan to 33,000 yuan per injection. From illness to the use of this "life-saving drug", Liu Mo waited for 13 years.
Dongdong (pseudonym) and Liu Mo live in a ward, Dongdong is in the third grade of elementary school, he has a round nose and egg-like skin, a pair of eyes dripping, wearing a dark green pajamas, pedaling a pair of slippers sewn by his mother. Except for holding his father's mobile phone to watch the animation, other times he refused to lie honestly in bed.
Whether it is getting out of bed or walking, Dongdong can't be like a normal child, he has to stick the entire upper body to the bed, with the stomach as the center, move the legs to the edge of the bed, and then slowly reach under the bed, walk up and arch his right shoulder upwards.
In 2016, Dongdong was diagnosed with Du's muscular dystrophy, which is also a hereditary rare disease, mainly male, and mostly asymptomatic carriers in women.
Dongdong's father, Chen Chi (pseudonym), said that he had taken his child to hospitals large and small, and this time he came to the Second Hospital of Zhejiang University to see if there were suitable drugs and treatment methods.
▲ On February 24, 2022, Dongdong played with his mobile phone in a hospital bed. Beijing News reporter Li Bingjie photographed
At 10:00 a.m. on February 24, Enron (pseudonym), who lived in the next room to Dongdong, changed out of his hospital gown, began to prepare for discharge at four o'clock, and spent a week in the ward, lamenting that he "can finally go out." This is his 7th hospitalization, he has long been familiar with the road, and the disease he suffered from," "Wilson's disease", has rarely brought him any psychological distress.
On February 18, Enron moved in because of a large intake of pecans with high copper content during the Chinese New Year, which worsened its symptoms. A normal person can excrete excess copper from the human body through urine and sweat, but a defect in a gene in Enron's body causes copper in his body to be smoothly excreted.
Enron's first illness was nearly a decade ago, after graduating from vocational school as an electrician, his hands were shaking violently and his speech was drooling.
In the years since, he has been taken by his parents to run all over the major hospitals, initially, he was misdiagnosed as bipolar disorder, took many psychotropic drugs, "but has not been effective", until September 2020, after genetic testing at the Second Hospital of Zhejiang University, he was diagnosed with "Wilson's disease", at this time, he has been living with this strange and unheard of disease for nearly a decade.
As a rare disease, Wilson's disease is included in the "First Rare Disease Catalogue" jointly issued by the National Health Commission and other five departments in 2018, which is a hereditary copper metabolism disorder mainly affected by the brain and liver, and its incidence is about 1 in 10,000 to 30,000.
Enron has not heard of "the only rare disease ward in the country", but he has been seeing patients for many years, and indeed he has never seen so many rare disease patients in one ward, "most of them are like me, they can't walk, their hands are shaking and shaking", he is keen to shuttle between patients, even if it is not the same disease, he can always comfort a few words, and the cold jokes also blurt out, "Why is there Tokyo, Nanjing, Beijing, but no Xijing?" Because the Western Scripture was taken away by the Tang monks. ”
Enron is one of Cao Jin's (pseudonym)'s few patients in the ward, and the two are similar in age and will discuss games and crushes together. If not necessary, Cao Jin did not want to get out of bed, hospitalized for four days, Cao Jin walked less than ten times in the U-shaped corridor of the ward, he was afraid of the eyes of other patients and families in the empty and quiet corridor, "their eyes seem to say look down on me", he preferred to hide himself deep in the crowd.
Hospitalization made his life more regular, and every morning he woke up with nothing to do, he took out his phone, watched a little video, pressed it again, and time passed with the salt water in the hanging bottle, and he fell into a deep sleep again.
Cao Jin was diagnosed with spinocerebellar ataxia in September 2020, an autosomal dominant disorder that will be passed on to the next generation if one of the parents is a patient. His mother died of the same illness in 2018, and after more than a decade in a wheelchair before her death, Cao Jin feared that he would have the same fate, and he insisted on running, hoping that the decline in physical function would come later.
Isolate the ward
Wu Zhiying was first exposed to rare diseases 30 years ago, when the name of rare diseases did not appear, "we generally call it genetic diseases." "In 1992, Wu Zhiying studied for a master's degree in neurology from Professor Murong Shenxing, one of the founders of neurology in Fujian Province, and one day in the outpatient clinic, a teenager in a wheelchair came, his body twisted, his limbs stiff, his speech was slurred, and his saliva kept flowing." My mentor shined a flashlight into his eyes, pointed to a brownish-green ring at the edge of the cornea and said, 'This is the K-F ring of the cornea, and this patient is a patient with Wilson'. This is the first case of Wilson's disease that Wu Zhiying has been exposed to, and she was shocked by the superb medical skills that her mentor quickly diagnosed the patient, "I also hope that I can see the difficult diseases that no one else can see in the future."
In this way, Wu Zhiying positioned his master's and doctoral research directions in Wilson's diseases, and expanded from Wilson's diseases to other rare diseases.
Wu Zhiying recalled that at the beginning, rare disease research faced many difficulties, collecting cases was difficult, and often encountered diagnostic bottlenecks, "There was a patient who came to see me in Fujian more than ten years ago, at first I could not diagnose him, until more than ten years later, the pathogenic gene of this disease was discovered, I gave him genetic testing to diagnose him, called him to inform him to come to follow up." ”
Wu Zhiying's medical journey has gone from Fujian to Shanghai and from Shanghai to Hangzhou, and over the years, her computer has saved more than 30,000 medical records of rare disease patients, but not every patient can be diagnosed in the outpatient clinic.
Wu Zhiying said that there are often patients more than ten years ago are recovered, "more than ten years ago we were limited to technical reasons, unable to diagnose some rare diseases, with the development of science and technology and the improvement of experience our diagnostic capabilities have also been greatly improved, if we determine from the most cutting-edge news which rare disease the patient is suffering from, we will take out the medical records and contact patients in various ways."
In contact with patients will also encounter various difficulties, some patients left only the pager number has long been no longer used, Wu Zhiying team can only write to the address left at the beginning, if not contacted, the team will call the phone to the village committee.
▲ On February 24, 2022, Wu Zhiying made a round in the ward. Beijing News reporter Li Bingjie photographed
In Wu Zhiying's view, genetic diagnostic techniques such as gene sequencing are widely used in clinical practice and can be regarded as a watershed in the diagnosis and treatment of rare diseases. Prior to this, rare diseases were mainly judged by clinical manifestations and conventional laboratory tests, but it was impossible to further diagnose the disease from the molecular level.
Genetic testing is considered the gold standard for the diagnosis of most rare diseases, and Wu Zhiying said that in the mainland, genetic testing has been widely used to diagnose rare diseases and genetic diseases in the last 10 years. There are more than 20,000 genes in the human genome, and the discovery of disease-causing genes in humans is constantly being updated.
Wu Zhiying has been brewing for a long time to establish a rare disease ward, "separating the ward, allowing rare disease patients to find a place to see a doctor and a doctor to see a doctor, which can provide more targeted treatment for rare disease patients, and also help us follow up with rare disease patients."
On November 1, 2021, the Second Hospital of Zhejiang University established the Medical Genetics Department/Rare Disease Diagnosis and Treatment Center in China for the first time, becoming an independent clinical department with a ward, outpatient clinic, and medical genetics laboratory specializing in the diagnosis and treatment of rare diseases. Adopt the mode of ward, outpatient and laboratory trinity to accurately diagnose and treat rare diseases.
Rare diseases seen
Those who can stay in the ward are considered lucky in the unfortunate fate, and they can be rehabilitated in the ward to delay the damage of the disease to the body.
According to the data, at present, there are more than 7,000 known rare diseases in the world, but only about 6% of them have drugs to treat, and worse, 80% of rare diseases are genetic diseases and have genetic problems.
More than half of China's rare disease patients face the situation of having drugs abroad and not having drugs at home, and some families have to buy from abroad at high prices. Among the 121 rare diseases released in the mainland, 74 corresponding treatment drugs for rare diseases are listed and sold at home and abroad, involving more than 100 kinds of drugs. However, there are only 31 rare diseases in China that are treated, involving more than 50 drugs.
Wu Zhiying, who is now the chairman of the Zhejiang Provincial Collaborative Group of the China Rare Disease Alliance, recalls that the mainland's widespread attention to the diagnosis and treatment of rare diseases began in 2018, when five ministries and commissions of the state issued the "Rare Disease Directory", which classified 121 diseases into the list of rare diseases, including Enron's Wilson's Wilson's tuberculosis and Cao Jin's spinocerebellar ataxia.
In 2019, the National Health Commission announced the establishment of a national rare disease diagnosis and treatment collaboration network, and selected 324 hospitals with strong rare disease diagnosis and treatment capabilities and more diagnosis and treatment cases nationwide to form a rare disease diagnosis and treatment collaboration network.
In Wu Zhiying's view, the current level of diagnosis of rare diseases in China can be in line with international standards, but in terms of treatment, until now, there has not been a rare disease treatment drug originally researched. At present, a large number of domestic drugs are either imported from abroad or imitated, resulting in rare disease drugs being very expensive in the Chinese market.
"We very much hope that in the future, there will be more research on the treatment of rare diseases, the state can invest more money, and the society and enterprises can also give more support to study the treatment targets and therapeutic drugs of rare diseases." If there is enough funding, I believe that Chinese scientists can study the pathogenic mechanism of rare diseases, find relevant targets, and develop original research drugs. ”
▲ February 21, 2022, Wu Zhiying Clinic. Beijing News reporter Li Bingjie photographed
In December 2021, a video of the medical insurance bureau's "soul bargaining" swept across the network, and the news of rare disease drugs entering medical insurance was paid more attention to, Wu Zhiying obviously felt that there were more people coming to the outpatient clinic, and more people were re-examining, "Some people have been sick for more than ten years and have not come to the hospital to see, mainly because we have no medicine, the price of medicine is expensive, even if we are diagnosed, the patient considers the economic problems, and once it comes, it will never come again." ”
As of December 2021, a total of more than 60 rare disease drugs in China have been approved for marketing, of which more than 40 drugs involving 25 rare diseases have been included in the national medical insurance list. If you take the 121 diseases in the "First Rare Disease Catalog" to calculate, about 20% of the diseases can be covered by medical insurance, such as penicillamine for the treatment of Wilson's tuberculosis, sodium Northinassan in spinal muscular atrophy, agasase α for Fabre disease, etc., are all covered under medical insurance.
However, Yu Hao, the attending doctor in the ward, explained that it is not scientific to calculate how many rare disease patients are covered under medical insurance by only counting the drugs for rare diseases, "There are many drugs that are not for rare diseases, but are also often used in common diseases, and common drugs are relatively cheap." It can also reduce the financial burden on patients. ”
From sky-high drugs to civilian medicines
In the rare disease ward of the Second Hospital of Zhejiang University, some patients are hospitalized for diagnosis, and some are for rehabilitation. In many rare diseases, although there is no specific drug, fixed rehabilitation treatment can alleviate the patient's symptoms. Enron said he had shaking his hands and feet before coming to the hospital, taking his medication on time at the hospital and becoming stable after being discharged.
This hospitalization, Liu Mo is to inject Nocinacine sodium, which is the first imported drug approved to treat spinal muscular dystrophy in the mainland, and at the beginning of the market, it was called a sky-high drug at a price of 700,000 yuan per injection.
When Liu Mo was in the worst physical condition, he had thought of injecting injections directly, but he was eventually scared off by the price.
Yu Hao, the attending doctor in the ward, said, "The injection of sodium neusina is required to be injected 4 times in the first two months, followed by 1 injection every four months, counting down 6 injections in the first year, and 3 injections per year after that, whether adults or children, the current scheme is the same."
Liu Mo's account began to be calculated after the domestic listing of Nosinasson sodium in 2019, a shot of 700,000 yuan, the first year of 4.2 million, followed by 2.1 million per year, hospitalization expenses of 10,000 a year. There was no course of treatment for the drug, and it had to be beaten every year after it began, "it was a bottomless expenditure", he did not dare to think. The first time he really thought of getting an injection was an aid project organized by the SMA Association that year, "about 550,000 injections, buy one get 5, get 2 the next year", although the price is still expensive, "but there are already a small number of patients who can accept it." Liu Mo's parents also encouraged him to try, "If I don't get an injection, my condition will deteriorate quickly, and they think it will be better to last for a year or two", but he hesitated and then gave up, on the one hand, out of financial considerations, on the other hand, his "condition is stable, it is not time to be in a hurry."
On December 3, 2021, the National Medical Security Bureau announced the results of the adjustment of the latest version of the national medical insurance drug list, and Nocinasin sodium injection entered the medical insurance drug list, and the cost was reduced from nearly 700,000 yuan / needle to 33,000 yuan / needle, which was implemented from January 1, 2022. According to the proportion of medical insurance coverage in different places, the cost of patients to pay out of pocket ranges from 1,000 yuan to 20,000 yuan per injection.
Liu Mo registered an appointment for the treatment of sodium northenoxan in the Second Hospital of Zhejiang University as soon as he heard about the price reduction of the drug, and on February 24, he injected the first injection.
Yu Hao is confident in the efficacy of the drug, "After the injection, the patient will feel an increase in strength, such as walking, standing, all more relaxed." ”
▲ On January 1, 2022, Yu Hao injected the patient with Nocinasine sodium injection. Courtesy of respondents
Dongdong's father, Chen Chi, showed an envious look to Liu Mo, "People have medicine for this disease, and we don't know when we can fight it."
Yu Hao said that at present, there is no specific drug for the disease of Du's muscular dystrophy suffered from Dongdong in China, and only several gene therapy drugs are listed abroad. But these drugs are expensive, and the annual treatment cost of a 20kg child weighing more than 3 million yuan is obviously unable to afford such treatment costs.
Chen Chi still took his son to the hospital, thinking, "If you can stay in the hospital, the next time you have a medicine doctor, you will definitely contact us first." ”
Ten years after the disease, Enron spent more than 100,000 yuan on the treatment of Wilson's disease. The drug penicillamine used for treatment is included in medical insurance, and rural medical insurance and Hangzhou's local West Lake Yilian Insurance can alleviate the economic pressure of Enron a little.
Yu Hao introduced, "Last year, the 7 drugs that entered the medical insurance list have reduced a lot of burden for rare disease patients, especially The decline in sodium Northinal, the decline is so large that we can clearly feel the increase in the number of patients treated, last year, our department only treated 3 patients, and from the beginning of the year to now, we have injected 13 patients." ”
Liu Mo, who had been discharged from the hospital after the first injection of Nosina raw sodium, felt lucky that he could wait for a life-saving medicine, "Slowly it will be fine, a little hope on the line." ”
(The patients and their families in the text are pseudonyms)
Duty Editor Gu li Kang Xi Xi