system barriers to rare diseases
who to ease & other; The butterfly baby & throughout; The pain of
China youth daily & middot; Middle online journalists Xie Yang interns Chen Zhuoqiong
25, readily like the sea, and love to eat Fried chicken, and a lot of girls like watching the ChuQiaoChuan and afraid of horror movies. A few years ago she had her own career: run a handbag shop in taobao, even if business is the best of times, two or three days to sell a package.
once, her life with their peers and not too big difference.
can be readily with Bullosa Epidermolysis disease (Epidermolysis Bullosa, hereinafter referred to as & other EB”) Deepening, and continue to appear all sorts of complications, she walk, eat, sleep becomes more and more arduous, had good life scenes and becoming a memory.
at the end of October 2017, held in Beijing shunyi a EB national conference on patients, many patients readily become the girl with the most poignant mouth, staring at the gauze wrapped the whole body is full of wounds, hands and feet touching contracture into a fist, and only in a wheelchair girl, people could not help but sigh, shaking his head, and a stone-faced to leave quickly.
& other; This is a single gene genetic skin disease caused by a genetic defect, currently has identified 19 disease genes. Throughout the &; Peking University first hospital of doctor of vice director of dermatology Lin Zhimiao, according to the probability of patients with autosomal dominant inheritance to their children is 50%, and patients with autosomal recessive itself does not pass on to his next generation, but the patient’s parents if to have children, the child has a 25% probability will be genetic.
exabytes of the patient’s skin is extremely strong like butterfly wings, the pressure of walking, eating and dressing any friction will lead to the body skin or mucous membrane repeatedly vesiculation, burst, or even fall off, followed by severe unbearable pain and skin long recovery time. They were kindly called & other; The butterfly baby & throughout; .
according to public welfare organization & other; The butterfly baby & throughout; Care center, at present our country registered number close to 700 patients with EB, mostly children. Because without strict epidemiological statistics, according to western countries the sick probability of 1/20000 ~ 1/50000 estimate, nearly ten thousand people in Chinese patients with EB.
like most rare diseases, the huge gap between urban and rural areas under the current medical system, the cause & other; The butterfly baby & throughout; Face the shortage of medical professionals, diagnosis is not clear, vulnerable to discrimination, poor drug accessibility, medical security mechanism is not sound, etc.
for rare diseases doctor more rare than rare disease
in 1992, was a county in shandong liaocheng hospital was born, his right leg in a piece of skin defect, fingers, toes and distribution of sizes of blood blister, mother su-qin wang was obtained on the spot.
because have never seen this kind of patients, doctors also did not find is what disease, with experience doubt is & other Congenital disease & throughout; Or pregnancy eat spicy irritated, just for small readily on blisters or burst in disinfectant wiping after simple wound with gauze.
more than 20 days in the hospital disinfection, covering many times, she finally wound scab, su-qin wang relieved carrying her out of the hospital, but it wasn’t long before she was again on blisters.
after the local tried many kinds of treatment is invalid. The radius of daily life has never been beyond the county’s mother took the aged 1 small readily to the provincial capital jinan, shandong provincial hospital, where she was eventually diagnosed with severe malnutrition type epidermolysis bullosa sex disease.
was born in shenyang’s language tong is simplex in patients with EB, the ninth day of birth is in a big hospital intensive care unit was confirmed, but the doctor didn’t give her offer effective treatment, after home family found the foot when their children are in bed feet blister, navel and vesiculation in diapers, uncontrolled situation more and more.
language tong diet of the mother held her to see a lot of hospitals, but doctors say it can’t cure, some kind of 3 armour hospital also put down a herpes skin disease, for all kinds of ointment.
because of the low incidence in patients with small base, is limited by the current medical level, most of the patients with EB face due to unclear diagnosis, misdiagnosis and long-distance medical situation, and short months, long years, missed the best treatment period.
in recent 15 years, the national children’s medical center in shunyi, Beijing children’s hospital, director of the children’s hospital dermatologist Xu Zhe seen more than 200 patients with EB, more than half of them are in the local doctor after several directions to Beijing seeking medical treatment of patients with heavy by others. Let him particularly memorable is a teenage boy in Tibet, haven’t met, outside the office, there was a strange smell, experience tells him that is large area skin burst after peeling the taste of blood plasma.
find Xu Zhe boy after twists and turns, dressed in a toga, gauze stick on the meat, lips around a granulomatous lesion is not more for many years, the fingers contracture, was eventually diagnosed with severe boundary type epidermolysis bullosa sex disease.
& other; The local people the child has, what a strange disease diagnosed almost 10 years. Throughout the &; Xu Zhe regrets the boy was delayed for such a long time, he hopes this kind of tragedy is not repeated.
public welfare organization & other; Rare diseases throughout & development center; Director huang in the basic-level hospitals for EB confirmed the realistic predicament difficult to understand, part of the first-tier cities such as Beijing, Shanghai 3 armour hospital, conditional on some rare diseases timely diagnosis, but the current level of medical development is difficult to ensure that clinical doctors know each kind of rare diseases.
& other; (treatment) of rare disease doctor more rare than a rare disease. Throughout the &; China-japan friendship hospital movement disorders and neural genetic disease research center director Gu Weigong said. In recent 20 years in the process of dealing with patients, she found a rare disease most of the treatment are very tortuous experience. She has demonstrated a rare disease in multiple public experience model, the picture from the leading examining, professional doctor visits, genetic testing, subsequent follow-up intervention and registered in six aspects, such as medical path clearly reflects the rare disease. Many patients have before receiving the diagnosis to go a long way, because some people even seek treatment, cheated, poverty because of illness.
Gu Weigong said the huge regional differences under the current medical system makes rare disease experts focused on several big cities, while patients with scattered around, it is difficult to obtain accurate knowledge of medical treatment. In addition, the current situation of domestic genetic testing institutions is uneven also indirectly lead to patients is difficult to obtain a definitive diagnosis.
this is a lifetime of pain disease
most rare disease group for the onset of action inconvenience or special performance, rarely appeared in the public eye, they tend to suffer unimaginable suffering and social discrimination.
readily to preschool age by his mother su-qin wang led to school. Responsible for teacher just look at the children, without much consideration refused. The principal reply su-qin wang said: & other; The child like you, if other children touch her, we also have responsibility; You said the illness do not infect, but other parents have opinions to me, I can’t explain. Throughout the &;
after twenty years, readily never go to school, can only rely on the retired grandfather teach some simple knowledge.
study was rejected, to put up with passers-by to seek the way glances. Gladly go out every time, someone will talk show: behind & other; Look, the children are burned up like that. Throughout the &; Some parents at the sight of her appearance is a put away their own children, far away.
not only such, EB common medical needs of patients also often not met, some patients to see dentist, or go to the digestive department, often because of the particularity of the wound injury was rejected, sometimes even have difficulty in blood tests.
in 2012, launched a domestic ying-chun zhou first & other; The butterfly baby & throughout; Care center, is committed to provide policy support for the patients, medical resources docking, provide medical help. According to his understanding, some children even make vaccine will be rejected. Encounter this kind of situation, he will let parents to go several 3 armour hospital dermatological department can proof of vaccination, but also some epidemic prevention station to epidemic prevention system and health system is refuse to admit that prove the effectiveness of the two lines.
in addition to the discrimination of the problems of misunderstanding, EB the patient’s quality of life is also very low. Xu Zhe said, there is no effective treatment the disease, most only through the PiKang, youtube, such as dressing for wound care, laborious and nursing care. According to estimate the severity of the patients with skin injury and replace stamp blister, debridement, dressing, bandage, a complete process, it takes 2 ~ 4 hours. At least one party to resign in most families, parents look after children at home.
& other; The butterfly baby & throughout; Care center director ying-chun zhou, also an EB the patient’s father, in August 2003, the daughter zhou min was born, he served as a telecommunications company in Shanghai before the department managers, more than 10000 yuan a month. After our daughter was born, and every day to check new blister, debridement, change the wound dressing, a set of process down close to 4 hours. In order to make time for child care, first wife to quit working in a company work, he also became a common clerk from the manager.
& other; It is a lifelong disease of pain. Throughout the &; Lin Zhimiao doctor said, in the daily life of every action could bring them great pain. Such as clothing tags if not dismantled, friction is likely to result in patients with neck a blister.
if you must be a treatment plan, bone marrow transplantation is an option, but the cost is high, the risk is big, cure effect is still limited, not once and for all the way. Bone marrow transplantation currently only applies to patients with severe generic type hair malnutrition and other heavy. & other; International patients underwent bone marrow transplantation in 20 cases, a third effect is obvious, a third effect is not obvious, the remaining 1/3 of death. Throughout the &; Lin Zhimiao stressed that even if the success of the transplantation patients also have uncertainty, they may be constantly fighting infection and rejection.
zhou min is the first domestic EB patients received bone marrow transplants, the deterioration in half the time the esophagus drink without water in pain, she decided to gamble. From 2014 after transplant survival for more than three years, she had pneumonia, meningitis, autoimmune hemolytic infection, three in the intensive care unit at a time.
the drugs and surgical treatment is the key to reasonably protect the wound, reduce friction, proper care. Xu Zhe stressed: & other; How care is critical, if the patient can get good help in medical treatment, proper care as soon as possible, can greatly retard his pain, reduce mortality. Throughout the &;
and the lack of specialized medical personnel is the biggest problem, can carry out the correct nursing of doctors and nurses are rare. Lin Zhimiao admitted that under the guidance of professional doctors rely on patients to give patients families training, teaching nursing experience has become the current stopgap.
according to Xu Zhe, currently based in Beijing children’s hospital affiliated to the capital university of medical sciences, Beijing children’s hospital in shunyi children’s hospital and the three hospitals, the first hospital, Beijing university, the domestic first & other; The butterfly baby & throughout; ZhuanBing outpatient service is to actively explore, to help patients with timely diagnosis, prognosis and provide decades of clinical nursing professional guidance, from a child to go to school and work, can provide different nursing methods. Specific instructions include using a different dressing, the dressing principle of different seasons, different ways of wound treatment, etc.
how to get out of the rare disease medical trouble
nursing care, access to cheap to use external use is the ultimate pursuit of EB diagnosis and treatment. Also known as & other rare diseases drugs; Orphan drug & throughout; , & other; Orphan drug & throughout; Both expensive and the biggest deficiency is a rare disease group medical trouble.
no clear definition of rare diseases in our country at present. In May 2010, the Chinese medical association genetics branch organization in Shanghai held a conference of rare diseases define experts, the results suggest that: the prevalence of less than 1/500000, or less than 1/10000 of the rates of neonatal morbidity disease, could be called China’s rare diseases.
in fact, because our country population base is big, & other; Rare diseases & throughout; It is not uncommon. On September 8, 2017, Beijing union medical college hospital, vice President of the express zhang Yang on the sixth China rare diseases peak BBS said: according to the international method, China has more than 30 million rare diseases.
as for the patients with EB, the dressing mostly depend on the imported products, according to the market price, a 10 centimeters square & other; Throughout the PiKang &; Price of 30 yuan, & other; Youtube & throughout; Also get 10 yuan, patients on their own to buy light dressing have to spend thousands of dollars per month.
ying-chun zhou to reporters calculated brushstroke zhang. Before zhou min received bone marrow transplants, he buy dressings takes five or six light the city $ten thousand a year. However, the current health care policy and no refinement of rare disease to a specific medication, dressing mostly can’t through the insurance reimbursement, in order to save money, many families will have disposable dressing clean after repeated use.
su-qin wang often hard days, in order to maintain the daughter’s body, she had to spend thousands of yuan every month to buy dressings, gauze and erythromycin eye ointment and other drugs, not including the daughter of various complications occurred in hospital expenses. Before every adjacent to buy medicine for a few days, her eyebrows are difficult to stretch, her husband at home, she had less than one month’s salary deducted endowment insurance, 1300 yuan.
now by some enterprises donation, & other; The butterfly baby & throughout; Care center to register patients free part of the dressing, to a certain extent, reduce the economic burden of patients.
the world known about 7000 kinds of rare diseases 80% of diseases are genetic diseases, nearly 50% of the affected population are children, the number of affected more than 300 million. null