Rare disease experts from the First Affiliated Hospital of Fujian Medical University conducted diagnostic experiments.
Southeast Network February 27** Road (Fujian ** reporter Zhang Jingwen text).
Core Tips. Baby Panda, Porcelain Doll, Baby of the Moon, Pocket Man, Sticky Baby, Butterfly Baby, ......Behind these beautiful names are rare diseases such as Gaucher disease, osteogenesis imperfecta, albinism, growth hormone deficiency, mucopolysaccharidosis, epidermolysis bullosa, etc.
What is a "rare disease"? According to the World Health Organization, diseases or lesions that affect 0 65 1 of the total population are called rare diseases. But in fact, there are more than 7,000 known rare diseases in the world, accounting for about 10 of all human diseases. According to authoritative statistics, due to the large population base in China, there are more than 20 million patients with rare diseases, and more than 200,000 new patients are added every year. Rare diseases, in fact, are not rare at all.
In order to understand the situation of rare disease patients in our province, on the occasion of the International Rare Disease Day, reporters approached rare disease patients and doctors to listen to their stories and voices.
Born to be rare and live a wonderful life.
On February 26, Wu Chengyu, a 19-year-old boy from Shishi, Quanzhou, a first-year student majoring in media and exhibition at Fujian Business School, started the journey of the new semester with his classmates.
If you weren't in a wheelchair, you wouldn't have imagined that the smiling and attentive boy in class was a patient with a rare disease DMD (Duchenne muscular dystrophy).
What is DMD? DMD, which stands for pseudohypertrophic muscular dystrophy, is a group of primary skeletal muscle necrotic diseases characterized by progressive skeletal muscle weakness. In Wu Chengyu's words, this "DMD friend" resides in his body, constantly diluting his strength, making his body weaker and weaker day by day - before the age of three, he was frequently admitted to the hospital due to repeated pneumonia, after the age of three, he was unable to stand on his own when he squatted, he could not run or jump in the second grade of primary school, and he was in a wheelchair in the fifth grade, losing his basic mobility.
However, the tricks of fate did not stop. In 2019, Wu Chengyu ushered in the darkest moment of his life. At this time, Wu Chengyu, who was studying in junior high school, accidentally fell under the bed and broke his femur. He lay in his hospital bed for a whole month, staring at the ceiling day and night. When he was finally discharged from the hospital, the armrest of his wheelchair suddenly broke, and he landed unexpectedly again, this time with a fractured knee.
After barely recovering, Wu Chengyu had to use electric lifts and electric nursing beds to maintain his daily life, and rely on the welfare car that his parents transformed to pick him up and drop off at school. To alleviate physical pain and prevent road risks, he can only attend half a day of school every day.
With the rapid progression of the disease and the deterioration of his studies, what hope is there for the future? "No matter how hard life is, you must create value. His father encouraged Wu Chengyu to overcome difficulties and try his hand at writing in his spare time. This gave Wu Chengyu a great inspiration: "Since fate has depicted my bleak and broken life with pen and ink, why not take pen to fight against it?" So, he began to express the beauty of the world with the pen in his hand. Despite adversity, the article is full of beautiful scenes.
Due to the continuous erosion of his physical strength by DMD, Wu Chengyu's hands cannot be lifted and lowered normally like ordinary people, and whenever he writes, he often needs the help of his family to lift his hands to the table. And every word he wrote had to use all his strength, and the handwriting was deeply "engraved" on the manuscript paper. In his opinion, these difficulties are nothing compared to illness, he is no longer imprisoned in a chair, in the palace of literature, he can immerse himself and wander and fly.
Prose, poetry, screenplays, ......Wu Chengyu used his spare time to create literature, and also founded a personal edict to advise good", creating more than 200,000 words, and many works were published in and outside the province. In this way, with a pen, he chiseled open the impermeable wall of fate and ushered in the "highlight moment" of life.
In 2020, Wu Chengyu published his first collection of personal literary works "Phoenix Blossoms". In 2021, he was named an "Inspirational Pioneer" in Fujian Province. In July 2022, he won the highest award of the 19th "Ye Shengtao Cup" New Essay Competition for Middle School Students - the "National Top Ten Little Writers" award. In March last year, his new book "Seeing the Beauty" was officially published. What makes Wu Chengyu even more proud is that he scored 495 points in the 2023 college entrance examination and was finally admitted to Fujian Business School, fulfilling his dream of entering the university campus with his peers.
You have given hope to people with DMD and hope that my children will be as strong as you are in the future. "You remind me of Stetson, and I read your articles to my children every day. "With the recognition and promotion of rare disease experts, Wu Chengyu's love and praise for life and perseverance in fate have inspired rare disease patients and disabled people, as well as many people who are at a low point, bringing them confidence and hope in life, and becoming a dazzling light in the national group of DMD patients.
Even when I'm sick, I still love my work and life. This is a portrayal of the life of Li Jiawei, a Fuzhou girl who is far away in New York, USA. She is a teacher at Hofstra University in the United States and a patient who has been battling rare diseases for 20 years.
When I was a sophomore in high school, I began to experience neurological symptoms, neuralgia in the ends of my fingers, memory loss, and bipolar mood. She vividly remembers the helpless scene when her parents took her to many hospitals, "At that time, when the Spring Festival was approaching, a doctor once told my mother that the child should eat and drink well, and the time may be running out."
Later, we found the Department of Neurology of the First Affiliated Hospital of Fujian Medical University, and the doctors helped our family do genetic testing, and the diagnosis was quickly confirmed. Li Jiawei said that the Wilson's disease she suffers from (hereinafter referred to as "Wilson") is a rare autosomal recessive genetic disease, which is caused by the abnormal deposition of copper in various tissues in the body.
Fortunately, this disease can be actively treated with a low-copper diet, medications, surgery, etc.**, and most patients can live close to normal. However, from the moment she was diagnosed, Li Jiawei has never touched the high-copper foods such as chocolate and coffee that young people love, and penicillamine tablets and zinc gluconate have become her "lifelong companions". "Everything in the world has cracks so that the sun can shine in. When it comes to illness, Li Jiawei seems calm and calm. "Perhaps, learning how to face the low tide and get out of the low tide is the subject of my life. She said that in the future, she will continue to learn and think, turn the experience of fighting the disease into a wealth of life, not only herself, but also help students in distress to get out of the trough and welcome the sunshine.
Peel back the cocoon to find the "real culprit" of the disease
Rare diseases are extreme manifestations of human health problems, often involving multiple organs and multiple system damage, so in order to make a clear diagnosis of rare disease patients, doctors need to make extreme efforts and endurance, make bold conjectures, cautiously verify them, and peel off the cocoons to find the "real culprit" of the disease.
You don't need surgery, take half a tablet of carbamazepine a day, and the symptoms should be relieved quickly. A year ago, Chen Wanjin, vice president of Fujian Medical University and vice president of the First Affiliated Hospital, stopped Lin Shuheng (pseudonym), a college student who was about to undergo surgery for "refractory epilepsy".
Kobayashi has been suffering from a strange illness for years. He vividly remembers that when he first became intoxicated, he was only in the second year of junior high school. At that time, he got up to answer the teacher's question, and suddenly the right half of his body twisted involuntarily, and it was not until more than ten seconds later that it returned to normal. In the days that followed, the symptoms became more and more frequent, with dozens of episodes per day.
In order to unravel the "curse" of this strange disease, Kobayashi has been running from hospital to hospital, and doctors have prescribed many diagnoses: epilepsy, hysteria, mental problems, mental breakdown, Tourette's syndrome, ......However, many drugs have been tried, but nothing has worked. Eventually, he was admitted to the hospital with "refractory epilepsy" and planned to have surgery to solve the problem.
During the preoperative consultation, Kobayashi was fortunate to meet Chen Wanjin, an expert in the diagnosis and treatment of rare diseases who changed his fate.
At that time, Kobayashi recalled, Chen Wanjin asked him about his medical history in detail and conducted an on-site physical examination on him. After that, he did a set of high leg raises as ordered by the doctor, and he became ill immediately. Seeing this, Chen Wanjin preliminarily judged that Xiaolin had a rare disease called "episodic exercise-induced dyskinesia", and suggested that Xiaolin undergo genetic PRRT2 testing.
Soon after, the results of genetic testing confirmed Chen Wanjin's diagnosis, and Xiaolin's gene PRRT2 was "positive". As a result, Chen Wanjin prescribed a simple and cheap prescription for Xiaolin - taking half a tablet of "macazepine" every day, and the cost was only 7 cents a day.
After taking the medicine for a few days, Kobayashi was surprised to find that the "curse" that had plagued him had disappeared, and it was normal until now. What made Xiao Lin feel even more happy and excited was that Chen Wanjin told him that if he took medicine normally, he would be able to live a normal life without taking medicine at the age of 30.
Behind Chen Wanjin's rewriting of Xiaolin's fate is the 8-year efforts of the neurology team of the First Affiliated Hospital. In 2005, the neurology team of the First Affiliated Department of Neurology received the first case of episodic exercise-induced movement disorder. When patients with this disease have a change in body position (such as getting up, turning, stepping, raising hands, or being frightened and frightened, or nervous, Kobayashi is from sitting to standing), dystonia will occur, and they will perform uncontrollable hand and foot movements.
For a long time, because the symptoms of this disease are similar to epilepsy, it has been treated as epilepsy**, but the effect is very bad. So, we suspected, it might not be epilepsy. Chen Wanjin recalled.
In the following years, the team found 8 families with the same disease, carried out continuous follow-up, and used gene sequencing technology to analyze the DNA samples of patients, until 2011, when they finally discovered the world's first "culprit" gene prrt2, the "culprit" gene of this rare disease.
Finding out the pathogenic gene is only the first step in the diagnosis and treatment of rare diseases, and the clear way is another difficult "hard bone". The team actively conducted clinical trials and finally published a study in 2013 that reported a significant ** effect on patients with episodic exercise-induced dyskinesia caused by PRRT2 mutations using a low-dose traditional antiepileptic drug carbamazepine. Since then, patients with episodic exercise-induced movement disorder have been able to identify the diagnostic method and the best protocol.
Patients with rare diseases like Kobayashi who have diseases that can be discovered and have medicines that can be treated are very lucky. But there are more than 7,000 rare diseases in the world, and less than half can be identified and treated in hospitals. Chen Wanjin said frankly that it is precisely because of the rarity and unknown that it is of great significance to spend several years or even more than 10 years looking for the "real culprit" caused by rare diseases.
In a narrow sense, exploring the pathogenesis and methods of rare diseases can allow more 'winged angels' to enjoy the infinite possibilities of life. For medical research, rare diseases are the extreme manifestations of underlying diseases, and the study of these extreme cases will help improve our understanding of the mechanism of human diseases and help us discover potential new methods. He said.
Concerted efforts to solve the problem of treatment.
In recent years, our province has made certain achievements in the diagnosis and treatment of rare diseases, but difficulties still lie ahead. Wang Ning, chairman of the Rare Disease Branch of Fujian Medical Association and professor of the First Affiliated Hospital of Fujian Medical University, talked about the current situation, saying that there are still many unknown areas of rare diseases that need to be explored, and patients with rare diseases still need more attention from all walks of life to help them overcome difficulties.
Diagnosis is the first problem that patients with rare diseases encounter. Wang Ning said that rare diseases are rare, but doctors who diagnose and treat rare diseases may be even rarer. Doctors in ordinary primary hospitals have never seen a few rare disease patients in their lifetime, and it is difficult for them to make a clear diagnosis and grasp in time when encountering such patients. In addition, rare diseases often involve multi-organ and multi-system injuries, involving multiple disciplines such as blood, orthopedics, nerves, kidneys, respiratory, ** and critical illness, which have high requirements for the level of doctors. Therefore, the misdiagnosis rate of the first diagnosis of rare disease patients at the grassroots level is high.
Building a diagnosis and treatment network is an effective means to improve the efficiency of rare disease diagnosis at this stage. Wang Ning said that in 2019, the First Affiliated Hospital of Fujian Medical University took the lead in establishing the provincial rare disease diagnosis and treatment cooperation network, after 5 years of practice, 14 cooperative hospitals have formed a tacit understanding, after the grassroots hospital found a suspected case of rare disease, it can immediately communicate with the leading hospital of the collaborative group, and the leading hospital will assess the patient's situation, and then carry out the corresponding diagnosis and follow-up guidance.
On this basis, the Rare Disease Branch of Fujian Medical Association and the Provincial Rare Disease Alliance have been established one after another, and a special disease group has been established with the disease as the axis, and standardized guidelines or consensus have been formulated, and then doctor training has been carried out to improve the diagnosis and treatment level of doctors.
As an expert active in the front line of rare disease diagnosis and treatment, Wang Tao, who led the establishment of the Children's Rare Disease Alliance of the Pediatric Branch of the Fujian Haiyi Association and the chief physician of Fujian Provincial Hospital, believes that one of the keys to doing a good job in the diagnosis of rare diseases is to think about common diseases and help patients be diagnosed as soon as possible.
He said that a large part of the difficult and rare diseases he diagnosed were "picked up" from common diseases. For example, if canker sores are repeated and accompanied by sores in other areas, it is necessary to pay attention to whether there is an autoimmune disease, especially Behcet's disease. "If the doctor does not have the spirit of getting to the bottom of the problem during the consultation, he may diagnose all the diseases he encounters as common diseases, and let the real '**** slip out of his nose. ”
In addition to diagnosis, the difficulties in ** should not be underestimated. According to the "2023 China Rare Disease Industry Trend Observation Report", due to inconvenient diagnosis and treatment, difficult access to drugs, etc., nearly 1 3 patients have not received or have never received it**. About half of the patients in this population never undergo or give up because they cannot afford the medical expenses.
In recent years, with the intervention of medical insurance negotiations, the problem of medication for patients with rare diseases has been solved to a certain extent, but the problem of "looking forward to medicine and sighing" still plagues a large number of patients with rare diseases.
In order to further help reduce the burden on the accessibility of drugs for rare diseases, experts suggest that relevant departments should consider strengthening the protection of rare diseases by inclusive commercial health insurance, and include as much as possible all rare disease drugs with high disease burden, urgent clinical needs, accurate clinical efficacy, and not yet covered by the medical insurance catalogue into the scope of inclusive insurance. Set up and optimize the protection responsibilities of inclusive insurance products related to rare diseases, appropriately relax the restrictions on pre-existing conditions, and optimize the setting of exemption clauses, so as to build a "medically insurable" protective net for patients with rare diseases.
In addition, the experts also called on all sectors of society to consider paying more attention to the physiology and psychology of patients with rare diseases. For example, patients with rare diseases such as sialic acid storage disorder have the same appearance as ordinary people, but they are prone to sudden spasms under external stimuli and cannot live alone. "Everyone should give more understanding to patients with rare diseases around them, and relevant departments should consider providing assistance from the perspective of disability recognition policies and the improvement of public facilities. ”
However, from the perspective of health economics, early screening and early detection are effective means to prevent the occurrence of rare diseases. Studies have shown that more than 80% of rare diseases are caused by genetic factors, and 50% of people develop them during birth or childhood. Once both spouses have the same defective gene, the next generation is at risk of developing rare diseases. Currently, genetic testing technology can diagnose whether a baby has a genetic mutation for a rare disease.
Based on this, experts agree that the prevention of rare diseases through genetic testing and prenatal screening is "less expensive, quick and effective". They called on high-risk groups for rare diseases to make certain pre-pregnancy and prenatal preparations, conduct prenatal screening, effectively prevent the occurrence of rare diseases, and minimize the consumption of social resources caused by disability due to disease.
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The team of rare disease experts from the First Affiliated Hospital of Fujian Medical University conducted a multidisciplinary discussion.
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The multidisciplinary expert team of the First Affiliated Hospital of Fujian Medical University used intrathecal injection to inject nusinersen sodium into patients with rare diseases.
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Wu Chengyu, a rare disease patient, exchanged and studied with his classmates.