70% of rare diseases occur in childhood, multidisciplinary diagnosis and treatment can save lives

"At present, 7,877 rare diseases have been collected worldwide, of which 5,018 provide the time of onset - basically 70% of rare diseases have already developed in childhood
.
" At the 2021 China Rare Disease Conference, Director of the National Children's Medical Center , said Ni Xin, director of Beijing Children's Hospital affiliated to Capital Medical University
.
In China, there are currently about 16.
8 million rare disease patients, of which 80% are genetically inherited, 50%-75% are diagnosed in childhood, or even higher, and about 35% die in the first year after birth.
The time of diagnosis is about 5 years, and only 5% of them are treated with drugs
.
For a country with a population of over a billion people, 16.
8 million patients is not a lot
.
However, rare diseases are very serious, highly disabled, high mortality, common in childhood, and the quality of life of patients is very poor.
At the same time, because of the extremely low incidence, people have very limited awareness of these diseases, and the rate of clinical misdiagnosis is high.
Diagnosis is very difficult, which in turn makes it difficult for these patients to obtain effective and timely treatment
.
Nearly 40% of children with rare diseases have been misdiagnosed at least once "About 40% of children with rare diseases have been misdiagnosed at least once, and it may take 5-10 doctors from the first symptoms to the final diagnosis
.
There are more than 200,000 children with rare diseases, and the misfortune of one child will affect at least 6-7 people, and 30% of children with rare diseases will not live beyond the age of 5.

" said Liu Wei, president of Tianjin Children's Hospital
.
Liu Wei hopes to find a breakthrough to solve the multi-level problem of rare diseases in children.
She expects that primary medical and health institutions can recognize, detect rare diseases, and promote follow-up; first-level and second-level hospitals can make primary suspected referrals; third-level hospitals are responsible for Diagnosis, treatment and network communication; the top-level design is in charge of the national center, dealing with intractable diseases and sharing the center
.
Liu Wei believes that, specifically, community health service centers must first build terminals, conduct surveys on rare diseases in the community, and build an online primary information database for children with rare diseases within their jurisdiction; complete the daily basic care for children with rare diseases, and gradually Improve the living environment of children with rare diseases; carry out theme publicity and provide comprehensive symptomatic and supportive treatment such as nutritional counseling for children with rare diseases
.
First-level and second-level hospitals should gradually cultivate talents with the ability to finely identify rare diseases in children.
They are proficient in the basic knowledge of rare diseases, can complete the primary screening of rare diseases in children, and make suspected referrals.
It is necessary to know the superior hospital.
We are good at diagnosis and treatment of rare diseases in children, and accurately connect children with suspected rare diseases to higher-level hospitals to improve the timely transfer of high-risk children
.
The county-level leading hospitals should have the rare disease diagnosis and treatment capabilities of tertiary hospitals, and the doctors have certain emergency treatment capabilities for rare diseases, and can guide the lower-level medical institutions in the region to complete the daily health intervention for children with rare diseases
.
In addition, doctors should regularly take the initiative to study rare disease diagnosis and treatment norms and the latest progress in higher-level hospitals, be able to provide technical training to lower-level medical institutions, and do a good job in the management of two-way referrals
.
For tertiary general hospitals and specialized hospitals, more energy should be placed on diagnosis and treatment and multidisciplinary evaluation
.
The primary task is to diagnose and treat, formulate individualized relevant management strategies, at the same time focus on continuing education, be able to organize relevant talent training courses, and attach importance to scientific research analysis
.
The room for expansion also includes telemedicine, refinement of work norms related to the diagnosis and treatment of rare diseases in children, formulation of reference plans, expert consensus,
etc.
The national center for rare diseases should establish a system to collect relevant information and issue policy recommendations and industry standards; take the lead in international forward-looking collaborative exchanges while cultivating domestically; pay attention to humanistic care and build a platform for health lectures; add rare disease chapters and Internship; guide children with related rare diseases to register in the civil affairs department to obtain corresponding assistance
.
"We look forward to providing care for children with rare diseases, including food, clothing, housing, life, old age, sickness and death, and the whole life cycle
.
" Liu Wei said
.
Multidisciplinary diagnosis and treatment of rare diseases in children "The establishment of a comprehensive diagnosis and treatment system for rare diseases is very beneficial to the development of the hospital.
The close cooperation of multiple disciplines reflects the public nature of public hospitals
.
At the same time, an expert consensus can be formed on the basis of a certain diagnosis.
In -depth research results and transformation will be produced
.
" said Zhang Guojun, Secretary of the Party Committee of Beijing Children's Hospital
.
Zhang Guojun introduced tuberous sclerosis, a common neurology, as an example.
Tuberous sclerosis can be seen in many disciplines, but its impact on the nervous system is relatively obvious, and its characteristics are very clear.
Therefore, in the diagnosis of the nervous system There are many patients, and a pure specialist diagnosis is likely to treat it as another disease
.
Another example is Noonan syndrome, which often shows some abnormalities in various disciplines such as endocrinology, heart, oral cavity, and psychiatry, and requires multidisciplinary doctors to complete the diagnosis
.
In terms of multidisciplinary cooperation in diagnosis and treatment of rare diseases, Beijing Children's Hospital, as a national children's medical center, has carried out explorations
.
In 2020, Professor Zhang Guojun (neurology), Li Wei (genetics), and Qian Suyun (critical illness) led the establishment of an expert committee and formed a corresponding working system
.
The hospital first opened up the process, from the first patient consultation to the follow-up consultation, the collection of data, the establishment of the green channel, the consultation of the expert group, and then to the corresponding case follow-up, etc.
, forming a closed-loop system
.
"We sorted out the specific conditions of 121 rare diseases.
The data collection in the past three years is relatively rich, including biological samples, clinical information, and gene banks
.
" Zhang Guojun believes that multidisciplinary diagnosis requires medical workers to change in their work, from Let patients run around in multiple disciplines to establish a modern diagnosis and treatment model and provide one-stop service
.
"In clinical practice, in the past, the traditional model was that one patient registered to see different disciplines, and it was not always possible to obtain a diagnosis after many years of travel; now, multidisciplinary doctors and experts focus on diseases and patients, which is equivalent to a change in the direction of diagnosis and treatment.

.
” Xie Songmei, Deputy Director of the Second Centralized Drug Clinical Department of the Drug Evaluation Center of the State Food and Drug Administration, introduced that the rare disease patients face a very big dilemma, and there are only less than 10% of the world’s patients.
There are rare diseases that can be treated with drugs, and more than 90% of the remaining patients are in a situation where no drugs are available
.
For our country, there are cases where there are drugs overseas but no drugs in China, and some drugs are imported, and the cost is too high , patients cannot afford to pay
.
Shengjing Hospital Affiliated to China Medical University is the largest children's regional medical center in Northeast China, and also has a special children's rare disease center
.
President Sun Siyu introduced that in May 2018, the state issued the "First Batch of Children's Diseases".
Since the "Catalogue of Rare Diseases", Shengjing Hospital has used about 20 drugs for rare diseases, some of which have only prescribed one box, and one of the more expensive drugs has only been prescribed 8 to 5 children so far
.
It is the common expectation of patients and doctors that patients have available medicines, timely medicines, affordable medicines, and good medicines
.
Director Shi Luwen introduced that the current situation in China is: there are difficulties in multi-level payment.
The total amount is limited, and in this state, we can only continue to advance in local exploration
.
"For example, the content of laws and regulations related to rare diseases is relatively scattered and lacks practical guiding significance, and there are operable and guiding policy documents; How the experience quickly rises to the norm for the formation of national policies also requires us to study carefully
.
Shi Luwen believes that the multi-party cooperation has not yet formed a model, and there is a lack of strong resource integration organizations
.
The China Rare Disease Alliance has begun to explore the integration of medical services and medical insurance, but in general, there is a serious shortage of rare disease diagnosis and treatment services related talents.
Can not meet the needs of patients
.
Social organizations, scientific research institutions, etc.
have limited participation, and patients receive limited attention
.
The required financial guarantee is not in place
.
All these issues are the next steps to improve and explore
.
China Youth Daily, China Youth Daily reporter Zhang Manyu Source: China Youth Daily