Porcelain Doll
Baby Butterfly
Baby Panda
Children of the Moon
Child on Mom’s Shoulder
…
Do you know what these words mean? (If you know, please come to the message area to leave us a message)
Today is February 28, and for many, it’s just an ordinary Monday. But for these children, today is a day for more people to know and pay attention to them:
World Rare Disease Day
There are so many beautiful names and so many moving stories about rare diseases. But today, we want more people to know these 10 things:
1. Rare diseases are actually by your side
“Rare disease” is an umbrella term for a group of diseases with low prevalence [1].
“Research Report on Definition of Rare Diseases in China 2021” lists “diseases with a neonatal incidence rate of less than 1/10,000, a prevalence rate of less than 1/10,000, and a patient population of less than 140,000” as Rare disease.
The Orphanet database (http:https://www.orphadata.org), which specializes in collecting rare diseases, has included 6172 kinds[2], and the actual number of diseases is estimated to be 7000 kinds or more . Due to the large population base, there are more than 25 million rare disease patients in my country, with more than 200,000 new patients every year [3].
Albinism
hemophilia
Progressive familial intrahepatic cholestasis
Parkinson’s disease (young-onset, early-onset)
Thalassemia
Gaucher’s disease
This means that 1 in 25 people around us are battling a rare disease.
2. Rare diseases and healthy people, there is only a fine line
Some rare diseases are inherited. These “mutated genes” may be present in each of us.
Carriers of recessive genetic diseases live the same life as normal people. But when you get married and have children, there is a 25% or 50% chance that the child will suffer from a serious rare disease or even die prematurely (this is not counting dominant gene mutations and sex chromosome-linked gene mutations).
Thalassemia, Phenylketonuria (PKU), Spinal Muscular Atrophy (SMA) and others are examples of this “crash” phenomenon.
Some researchers performed sequencing screening of 448 severe childhood recessive genetic diseases in 104 “normal people”, and found that each person carried at least 2.8 pathogenic mutations [6]. In other words, even if we are healthy now, it is difficult to guarantee that we do not carry any mutation in ourselves or others, and whether this mutation will affect the next generation.
3. Rare Diseases, Not Just Genetics
72% of rare diseases are hereditary, while others are caused by infections (bacterial or viral), allergies and environmental factors, or degenerative and proliferative diseases.
Some types of tumors are actually rare diseases. For example, chronic lymphocytic leukemia (hereinafter referred to as “chronic lymphocytic leukemia”) is a chronic proliferative hematological tumor of B cells. The abnormal function of B cells leads to the occurrence of chronic lymphocytic leukemia, which mostly occurs in the elderly.
And, the concept of “rare disease” itself is constantly being updated. A few decades or a hundred years ago, perhaps the tumor itself was a rare disease.
Many people think these are called “rare diseases” because they are “rare.” In fact, “rare” is a medical need that is far from being met.
4. Rare patients who bear the consequences of “mutation” for healthy people
About 80% of rare diseases are caused by genetic factors, which originate from mutated, pathogenic genetic material and are transmitted through reproduction. Variation is the foundation of biological evolution, and fertility is the instinct of human inheritance.
It can be said that rare patients “take” this risk for healthy people. Therefore, some people say that “every rare patient is a key to unlock the mystery of life”.
5. Rare patient, longing for a brilliant life
If they can get enough opportunities and care, rare patients can achieve the same achievements as healthy people and have the same splendid life as healthy people.
For example, Hawking’s diagnosis of amyotrophic lateral sclerosis (ALS), commonly known as “ALS,” didn’t stop him from becoming one of the greatest physicists of our time.
However, most rare patients do not have the same opportunities for education, marriage and childbirth as healthy people. They can’t go to school, they can’t get a job.
When they want to get married and have children, there are still voices who accuse them of “having children with bad genes”, which is a great injustice for rare patients.
6. The diagnosis and treatment of rare diseases has always been a global problem
Some people may still have this idea: Rare diseases are just diseases. Now that medicine is so advanced, it is necessary to take medicine and surgery to treat diseases.
It’s not that simple at all,rare diseases have always been a global problem, from diagnosis to treatment.
The first is “difficult to diagnose.”
The early symptoms of many rare diseases are not typical. The common symptoms of rare diseases at certain times are comparable to general abdominal pain and allergies. Not only are these symptoms confusing, they are more likely to be misdiagnosed.
Lack of concentration, always unable to sit still, beware of “tuberous sclerosis” quietly coming; dark spots on the lips, frequent stomach pains, maybe “dark spots and polyps syndrome” Symptoms”; a body that breaks and bleeds when touched, may be suffering from “hemophilia”; a child who always sleeps in class may be “Sleeping Beauty Syndrome”.
Data shows that in the United States, a rare disease patient needs an average of 7.6 years to experience 8 doctors and be misdiagnosed 2.3 times to be diagnosed [7].
The second is “difficult to treat.”
Many rare disease drugs are very expensive. For example, Nosinagen Sodium Injection, which will be included in medical insurance in 2021, is the world’s first precision targeted therapy drug for the treatment of the rare disease Spinal Muscular Atrophy (SMA). Before being “bargained by the soul”, the price was 700,000 yuan per needle.
“Don’t give up every small group” moves us, but for most rare disease groups, the cost of treatment is far beyond what families can afford.
Most rare diseases are “treatable, but not curable” [5]. What we can do is to help patients reduce suffering, manage complications, prolong life, and improve quality of life. This road is still full of challenges.
7. More difficult than “expensive”: no medicine
Last year was trending”I’m not a drug god, I’m just a father”, Xu Wei, a father with a high school education, desperately made his own compound copper histidine to save his son with Menkes syndrome.
Why did this father choose to “make his own medicine”? The reason is: there is no medicine.
With limited resources, few pharmaceutical companies are willing to invest in the research and development of new drugs for rare diseases whose biological mechanisms are unknown; even if some companies are willing to invest in them, a new drug can be It also takes about 10 years on average to go public, and the success rate is only 10%.
As of December 2018, among the 121 diseases involved in the “First Batch of Rare Diseases List”, there are only 55 drugs that have been clearly registered with rare disease indications in China, and only 31 a rare disease [8].
Compared with as many as 6,000 to 8,000 rare diseases, it is far from meeting the treatment needs.
8. Focus on rare diseases, the country is in action
Currently, countries are already acting:
In terms of policy, a separate queue for quick review and quick approval mode is implemented for applications for innovative orphan drugs, vigorously promoting the research and development of innovative products, and improving the availability of drugs for rare diseases [9].
In the payment system, the National Medical Insurance Bureau improves the security system from the top-level design through the “top-down” mechanism, and the local medical insurance first promotes the upgrading and innovation of medical insurance “from the bottom up” [10].
In addition to the previous Nosinagen Sodium Injection, the concentrated solution of agalsidase alfa injection for the treatment of the rare disease Fabry disease and requiring long-term use by patients is also “far lower than the market price” into health insurance. Previously, the annual treatment cost of this drug exceeded one million yuan.
Let rare disease patients “have medical care and medical insurance” is not just a slogan. The country is taking action, and hospitals, enterprises, and disease organizations are also constantly Practice it yourself.
However, these forces alone are not enough.
9. To reduce rare diseases, we can do these things
Rare diseases are difficult to prevent 100% effectively, but joint screening by both husband and wife, early screening, early detection, and early treatment are effective means to reduce birth defects.
Specifically include:
Before pregnancy, do pre-marital examination and pre-pregnancy examination and health care, including; pre-pregnancy examination 4 to 6 months before pregnancy; avoid consanguineous marriage and birth at an older age; 3 vaccinate against rubella every month; stay away from drugs, smoking, and alcohol; avoid exposure to harmful substances; supplement folic acid 3 months before pregnancy to 3 months after pregnancy; timely detection and treatment of diabetes in the first trimester.
During pregnancy, do prenatal screening and diagnosis: Including blood biochemical indexes, chromosomal abnormalities and NTD screening in the first and second trimesters; around 20 weeks of gestation Ultrasound screening for large deformities, etc.
After the child is born, common birth defects are screened for newborns, and timely detection and intervention are carried out.
10. The more love and understanding, the more strength and protection
Perhaps, we will never be able to eliminate “rare diseases.” However, we can eliminate “rare” by “seeing”:
Don’t look strange when you see a rare patient;
Supporting access to education and jobs for rare patients;
Support rare disease organizations and help within their power;
…
I also hope to see you here, share the article and tell others:
Rare patient, not “defective” but “limited edition”.
Reviewer: Huang Yu
Deputy Director, Department of Medical Genetics, Peking University School of Medicine
References
[1]https:https://europa.eu/newsroom/events/rare-real-talking-rare-diseases_en
[2]http:https://www.orphadata.org/cgi-bin/epidemio.html
[3] “China Rare Disease Definition Research Report 2021”
[4]Procedural document: Epidemiology of rare diseases in Orphanet
Prevalence, incidence and number of published cases or families.
[5]https:https://globalgenes.org/rare-disease-facts/
[6]Bell CJ, Dinwiddie DL, Miller NA, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011 Jan 12;3(65) :65ra4
[7]Pogue RE, Cavalcanti DP, Shanker S, et al. Rare genetic diseases: update on diagnosis, treatment and online resources. Drug Discov Today. 2018 Jan;23(1): 187-195. doi: 1016/j.drudis.2017.11.0028.
[8] “Report on Access to Drugs for Rare Diseases in China (2019)”
[9] “Notice on Printing and Distributing the Plan for Deepening the Reform of the Medical and Health System during the 13th Five-Year Plan” (Guo Fa [2016] No. 78)
[10] “Notice on Including the Negotiated Drugs in Class B in 2019” (Medical Insurance Fa [2019] No. 65)
Author: Jing Zixin
Editors: Emgrand, Guo Qian, Zhang Jie
Proofreading: Wu Yihe | Typesetting: Li Yongmin
Operation: Han Ningning | Coordinator: Wu Wei