World Rare Disease Day is the last day of February every year. On February 29, 2008, the European Organization for Rare Diseases (EURODIS) initiated and organized the first International Rare Disease Day,the commemorations were successfully held in various European countries, promoting social awareness of rare diseases through various activities.
The theme for Rare Disease Day 2024 is "Share Your Colours," emphasizing the importance of collaboration and support for those with rare diseases and promoting public and government awareness of rare diseases and the problems faced by rare disease groups.
Global Genes has estimated that currently approximately 10,000 rare
diseases exist globally, with 80% of these having identified genetic origins [1]. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the 2nd rarest known genetic disease being beaten only by Fields Condition affecting three individuals, Catherine and Kirstie Fields, and one unknown person [2,3].
We should actively carry out the publicity of rare diseases and the popularization of scientific knowledge, organize relevant medical training, improve the level of discovery and diagnosis of rare diseases worldwidely, and reduce the delay in disease intervention and treatment opportunities caused by misdiagnosis and missed diagnosis.
This article may bring some basic crucial knowledge about Rare disease for each people enjoying lives.
What is a rare disease?
What are the causes of rare diseases?
How to diagnose and treat rare diseases?
The best precautions!
Who needs genetic counseling?
What is a rare disease?
There is no single, widely accepted definition for rare diseases. Rare diseases, as the name suggests, refer to diseases that have a very low prevalence and are rare. The World Health Organization defines rare diseases as diseases or lesions affecting 0.065% to 0.1% of the total population. Most of them are congenital, chronic diseases, and are often life-threatening.Common rare diseases include albinism, acromegaly, mitochondrial diseases, thalassemia major, etc.
What are the causes of rare diseases?
According to the WHO,about 80% rare diseases are mostly recessive
inheritance in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays.
Other rare diseases are caused primarily by infections and allergic reactions, or by degeneration and proliferation of the body.
There are currently about 30,000 structural genes that can be discovered in humans, and each person carries a different number of recessive disease-causing genes. If there is only one simple recessive disease-causing gene, there will be no disease; but when people get married and become pregnant, the defective parts of the genes of both spouses "collide" together, and rare diseases may occur. About 50% of rare diseases The disease can occur at birth or in childhood. Rare diseases often progress rapidly and have a high mortality rate. Only about 1% of rare diseases have effective treatments. Therefore, it is more important to move forward and prevent rare diseases from the source.
How to diagnose and treat rare diseases?
The low incidence of rare causes and the complex testing and drug
development processes have led to a series of treatment dilemmas.
Difficulty in diagnosis is the first problem with rare diseases. The "China Comprehensive Social Survey on Rare Diseases" shows that the average diagnosis time for rare diseases from 2020 to 2021 is 4.26 years, and the misdiagnosis rate is as high as 42%. 32.1% of Chinese doctors have never diagnosed rare diseases, and the problem of diagnosis and medical treatment in other places is prominent.
Sadly, no medicine is available, which is another big problem. Currently, only about 5%-10% of known rare diseases in the world have curable drugs. Even if there is a cure, many patients give up treatment because they cannot afford the high cost. Therefore, patients with rare diseases are often called "medical orphans."
Genetic testing has become an important means of diagnosis, prevention and treatment of rare diseases. If genetic testing can be used to screen in advance and find carriers of some known rare disease genes during the two stages of pregnancy preparation and pregnancy, prenatal genetic testing can be used to Diagnosis and other measures to reduce the number of children born with rare diseases
Participating in genetic disease carrier screening before pregnancy and before 18 weeks of pregnancy is an important means to prevent the occurrence of major genetic disease defects!
According to surveys, only 5% of rare diseases currently have treatment options, but the prices are very expensive. Most patients with rare diseases know little about their diseases and do not know how to treat them correctly; patients have been at home for a long time, unable to receive normal school education, and lack employment skills and the ability to live independently; some families of rare disease patients have become poor due to the disease, they live a great difficult life.
New AI tool might help in rare disease diagnosis in future.
The best precautions!
Early detection and early intervention are the best ways to prevent and treat rare diseases. Rare diseases are often congenital, chronic, and wasting diseases, which cause great suffering to patients and their families.
In order to avoid giving birth to children with genetic diseases, couples should pay attention to the following points when preparing to start pregnancy:
- Understand family medical history and undergo genetic counseling
If a family member already has a rare disease, genetic counseling must be done. Genetic counseling is an important link in preventing genetic diseases and achieving eugenics and postnatal care. It mainly refers to combining human genome technology and human genetic knowledge to provide patients with related medical services such as pre-test consultation, genetic testing, report interpretation, and precise treatment of genetic diseases.
Consulting doctors and consultants discuss and discuss all issues faced by their families regarding the causes, inheritance patterns, diagnosis, treatment, prevention, recurrence risks, etc. of genetic diseases in their families, and finally make appropriate countermeasures and choices to achieve prevention and treatment effects. The consultation process usually involves face-to-face communication.
- Prohibition of marriage between close relatives
Marriage among close relatives may increase the incidence of rare diseases.
- Encourage age-appropriate childbearing.
Older women (≥35 years old) have an increased risk of fetal chromosomal abnormalities.
- Early diagnosis and treatment after birth can improve the quality of life of children.
At present, parents are most encouraged to carry out tertiary prevention. First-level prevention: Provide eugenic guidance before pregnancy, take oral folic acid, etc., and complete eugenic examinations. It is best for both husband and wife to undergo single-gene recessive genetic disease carrier screening to see if they carry the disease-causing gene. Secondary prevention: During pregnancy, common chromosomal diseases can be screened through prenatal screening and non-invasive prenatal diagnosis. For those with high risk of screening and those with ultrasound abnormalities, chorionic villus or amniocentesis can be performed, and fetal cells and molecules can be tested. Genetic testing, through this form of prenatal diagnosis, prevents the birth of fetuses with genetic diseases. Tertiary prevention: Newborn screening. Rare diseases such as phenylketonuria can be detected by taking heel blood of newborns after birth. Currently, more than 80 genetic diseases can also be screened through newborn genetic screening. Once a genetic disease is detected, especially some genetic metabolic diseases, timely treatment and intervention can be used to prevent the development of the disease.
Who needs genetic counseling?
There are one or more patients with the same or similar symptoms in the family, and there are doubts about their genetic factors and risk of recurrence:
- Couples who have given birth to children with genetic diseases or congenital malformations;
There are clear carriers of genetic abnormalities in the family;
- Elderly women who are 35 years old or older and planning to become pregnant;
- Couples who have been infertile for many years after marriage;
- Couples with adverse pregnancy history such as unexplained recurrent miscarriage or stillbirth;
- Couples who are carriers of recessive genetic diseases before pregnancy;
- Men and women of childbearing age who are often exposed to possible teratogens in their long-term work or living environment;
- Those who have a history of adverse exposure during pregnancy (environment, viruses, drugs) and pregnant women with certain chronic diseases;
- Those who have abnormalities found in routine examinations or screening for common genetic diseases, such as pregnant women with abnormalities such as polyhydramnios, oligohydramnios, fetal growth retardation, fetal development malformations, etc.;
- Patients who want to have children and have multiple deformities;
- Other situations that doctors think require consultation.
Share your color,Share your love,Share your Knowledge,Share your help, More rare patient enjoy a happier life!
References
[1]. "Rare Diseases". Siope.Eu. 9 June 2009. Archived from the original on 3 December 2012. Retrieved 24 September 2012.
[2]. Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M (September 2010). "The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency". Journal of Molecular Medicine. 88 (9): 931–9. doi:10.1007/s00109-010-0634-1. hdl:1871/34686. PMID 20499043. S2CID 10870492.
[3]. Kaur, Parneet; Wamelink, Mirjam M. C.; van der Knaap, Marjo S.; Girisha, Katta Mohan; Shukla, Anju (1 August 2019). "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA". European Journal of Medical Genetics. 62 (8): 103708. doi:10.1016/j.ejmg.2019.103708. ISSN 1769-7212. PMID 31247379. S2CID 195760193.