February 28 is International Rare Disease Day, what is the reason why most people suffer from rare d

Rare Diseases: 80% of rare diseases are caused by genetic defects.

According to the "Rare Disease Academic Symposium" hosted in Beijing, there are about 10 million rare disease patients in China, which is much higher than the total number of cancer patients in China. Among them, 80% of rare diseases are caused by genetic defects, 50% of rare diseases develop at birth or in childhood, and only 1% of rare diseases have effective ** drugs.

The World Health Organization defines a rare disease as a disease or lesion that affects between 1 and 1 of the total population. About 80% of rare diseases are caused by genetic defects, and half of them develop at birth or in childhood. However, less than 1% of rare diseases currently have an effective** approach.

Rare diseases also include pulmonary hypertension, macrodactyly, autism, water allergies, sleeping beauty syndrome, etc.

Pulmonary hypertension: High blood pressure in the lungs, which can lead to right heart failure and even death, can be said to be a cancer in cardiovascular disease. The patient's lips and fingers are blue-purple, and each walk is extremely difficult due to chronic oxygen deprivation.

Megadactyly: a congenital malformation characterized by increased volume of fingers or toes due to abnormal nerve growth, with a low incidence of congenital malformations of the limbs, and megadactyly being one of the least common upper limb deformities.

Autism: Every 20 minutes in the world, a child is diagnosed with autism, and the main manifestations of patients are different degrees of speech development disorders, interpersonal communication disorders, narrow interests, and stereotyped behaviors. They may have abnormal memory and may be particularly good at personal interests and skills.

Water allergy: also known as "waterborne urticaria", is an extremely rare ** disease, and patients are allergic to water. As of the beginning of the 21st century, only 35 cases of this disease have been found, and no one has ever been **.

Sleeping Beauty Syndrome: This is a condition in which excessive sleep and behavioural changes occur repeatedly. At the onset of the disease, people often sleep or are sleepy most of the day and night, and people are often unable to go to school or work normally due to the onset of the disease.

Most people stay in bed almost all day, tired and unable to communicate with others.

For every 10,000 people on the planet, there are six to ten people with rare diseases. Some experts say that each of us has a genetic defect for a rare disease, and from this point of view, anyone has a "disease" in their genes. At present, the total number of rare diseases in China is about 16.8 million, and 95% of them have no method.

At the starting line of life, they can't persevere! Huang Rufang, Director of the Center for Rare Disease Development, said, "The field of rare diseases is not only a challenge for China, but also for patients around the world in terms of diagnosis, **, medical insurance and social integration".

Most people suffer from genetic defects that are caused by their own rare diseases. Many rare diseases are not contagious, but are caused by genetic defects at birth. So it's hard.

I think the reason why most people suffer from rare diseases is because of genetics, and there are many people who seem to be born with rare diseases, and of course there are rare diseases caused by irregular work and rest in the later stages.

This has something to do with close relatives getting married and having children late, and whether or not they have a prenatal checkup. In order to reduce rare diseases, it is necessary to avoid all factors that can cause diseases.

Most people suffer from rare diseases because of some genetic factors.

Most of them are hereditary disorders.

About 80% of rare diseases are caused by genetic defects, known as hereditary rare diseases. Many people think that rare diseases are someone else's family affair and have nothing to do with them, because they have not had those familial genetic diseases for generations. But in fact, rare diseases are not far from us, and perhaps among our relatives and friends, the diseases they suffer from are hereditary rare diseases.

Ways to prevent rare diseases

1. First of all, the genetic counseling of family members is carried out, the corresponding detection technology is used to determine the gene mutation**, the inheritance mode and family carrier are clarified, and then the risk assessment of the recurrence of fetal genetic diseases is carried out, so as to select the appropriate pregnancy method and prenatal diagnosis method.

2. For high-risk groups, such as one of the husband and wife who is a patient, or a child who has given birth to a genetic disease, or a carrier of a certain genetic disease, the high-risk group needs to do genetic testing of chorionic villus or amniotic fluid during pregnancy.

3. Through early diagnosis and intervention after birth, timely and effective targeted measures should be taken to reduce damage and avoid aggravation of the disease, so that patients with chronic plexus can maintain a healthy state.

Regarding rare diseases, the following statements are correct:1Rare diseases refer to diseases that occur rarely, such as those in Nunga Europe, which is defined as a disease that affects less than 5 out of every 1,000 people.

2.There is a general lack of public awareness and understanding of rare diseases because of their low incidence and lack of understanding of them by most doctors and the general public.

3.Differentiating between rare diseases can be difficult because symptoms can be very broad, similar to those found in other common diseases, leading to misdiagnosis and delays**.

4.For patients with rare diseases, it is often necessary to carry out multidisciplinary cooperation and management, including genetic counseling and psychological support for the disease.

5.Due to the rarity of the disease, there is a lack of assistance for research and medical support, so the best methods and medicines are also limited.

When was the International Day of Rare Diseases launched? What are some "common" rare diseases in life? Let's take a look at this problem**, I hope these contents can help friends in need.

The International Day of Rare Diseases was organized and organized by the European Organization for Rare Diseases on February 29, 2008. The first International Day for Rare Diseases celebrations were successfully held in countries around the world, promoting social development and understanding of rare diseases through a variety of themed activities.

On February 28, 2009, rare disease institutions in more than 30 countries including Europe, North America, and Latin America participated in the theme activities of the second International Day of Rare Diseases.

The International Day of Rare Diseases is dedicated to promoting awareness among the general public and the sector about rare diseases and the problems encountered by the rare disease population. Rare diseases refer to diseases with a very low prevalence rate and very rare, which are generally chronic and have serious consequences, and are often life-threatening. WHO defines rare diseases as diseases or variants that are in the middle of the total number of illnesses in the total population.

There are five to six thousand rare diseases identified internationally, accounting for about 10% of people's diseases.

In rare disease patients, most of them have multiple internal organs affected, especially the inspiratory, circulatory system, and central nervous system. Because of their weak immunity and the need to take care of their lives, they are more vulnerable to infection. However, it is more harmful to the respiratory tract after infection, and at the same time, it will also spread to other systems such as cardiovascular systems, causing malignant transformation of primary diseases.

In particular, rare diseases that involve genetically inherited respirate acid and key internal organs are more harmful.

At present, there are more than 7,000 kinds of rare diseases identified internationally, such as sepsis, "ceramic dolls", and "motor neuron disease", but there are also many rare diseases that are not well known. Scientific studies have shown that more than 80% of rare diseases are caused by genetic causes, and 50% are complicated by birth or childhood. Once the other half inherits the same defective genes, the next generation will have a high risk of developing rare diseases.

The average diagnosis time for rare disease patients is as long as 5 years, even in countries with more advanced health care management systems, and thousands of families are running around the complicated medical industry, but they are repeatedly misdiagnosed. Rare diseases involve many courses such as hematology, brain surgery, nervous system, kidney function, inspiration, skin, etc., and clinicians widely lack specialized skills in rare diseases.

Every rare disease is different, and it is difficult to diagnose it. High misdiagnosis, high misdiagnosis, and difficulty in taking medication are the difficulties faced by patients with rare diseases. For the prevention of rare diseases, it is necessary to do a good job of early detection, early diagnosis, treatment, and medicine.

According to authoritative experts, the vast majority of rare diseases are genetic diseases. In order to avoid and reduce the occurrence of rare diseases at the source, it is necessary to build an Internet for the screening of newborn babies across the country, improve the rules and regulations for pre-pregnancy examinations and disease screening, and diligently reduce the incidence of high-risk newborn babies including rare diseases.

It was initiated on February 29, 2008, albinism, ALS, osteogenesis imperfecta, hemophilia, galactosaemia, these are all rare diseases that are often seen, and are generally caused by genetic reasons.

The International Day for Rare Diseases was launched in 2008. The "common" rare diseases in life are: albinism, acromegaly, phenylketonuria, mitochondrial disease, idiopathic pulmonary hypertension, hemophilia and so on.

The International Day of Rare Diseases was launched in 2008, and albinism, idiopathic pulmonary hypertension, acromegaly, phenylketonuria, and mitochondrial disease are all common rare diseases.

It was launched on February 29, 2008. There are albinism, mitochondrial disease, phenylketonuria, acromegaly, porcelain dolls.

The number of rare diseases accounts for about one millionth of the total population, and the rare diseases that are more familiar in China, including phenylketonuria, thalassemia, osteogenesis imperfecta, albinism, acromegaly, idiopathic pulmonary hypertension and other diseases, are diseases with a small incidence probability and are not easy to develop, and need more social attention.

Rare diseases that are more familiar in China include phenylketonuria, thalassemia, osteogenesis imperfecta, and some special inflammations caused by some bacteria and viruses. In addition, due to the limitations of medical conditions and medical technology, some diseases, such as some metabolic diseases, will be classified as rare diseases.

Common rare diseases in life include albinism, hemophilia, porcelain doll disease, ALS, spinal muscular atrophy, phenylketonuria, thalassemia, etc.

Common rare diseases in life include albinism, mitochondrial disease, acromegaly, phenylketonuria, and osteogenesis imperfecta.

1. What is International Rare Disease Day?

2. Survive in isolation.

3. Farmhouse cuisine.

4. Ladder. 5. Water Fun Games.

6. CS field battle.

7. Precautions.

1.What is International Rare Disease Day? The first International Day for Rare Diseases was initiated and organized by the European Organization for Rare Diseases (EURODIS) on February 29, 2008.

The first International Day of Rare Diseases commemorations were successfully held in various European countries, promoting awareness of rare diseases through various activities. On this day, for a healthy life. With friends, go camping in Shuangyue Bay, Huidong.

2.Survive in isolation. teamwork projects in isolated island survival activities; Project Description:

The group divided the trainees into three groups, which were placed on Taiping Island, Blind Island and Dumb Bar Island, and then rescued all the personnel to Taiping Island. Training Objectives: Group Decision-making; leadership roles; Rational arrangement of human resources; teamwork; the search for a scientific approach to problem solving; Handling of major and minor contradictions.

At the same time, it is a good maritime pastoral development activity.

3.Farmhouse cuisine. To put it simply, it is a dish prepared by rural people using traditional methods of raising poultry stocks, growing vegetables and local naturally grown specialties as raw materials.

According to the traditional farming and planting habits, domestic livestock are generally only fed with rice, miscellaneous grains, vegetable leaves, grass, etc., the growth is slow, the maturity period is long, so the meat quality of poultry is firm, and the amino acid content is high. Our travelers are the only outdoor outward bound activity plan.

4.Ladder. The Ladder is a two-player co-op event.

The two members of the team cooperated with each other under the condition of safety protection, from the lower end of the ladder to the highest point. It is also an effective outreach training at the moment. learn to make decisions in groups; role positioning; a scientific approach to finding solutions to difficult situations; rational use of human resources; Interpret the hard journey of life, step by step and work hard; Determination and realization of work objectives; dedication to others; Communication under the condition of double collapse and empty people.

5.Water Fun Games. The Water Fun Games are water sports and entertainment activities that are carried out on the beach, riverside or indoor swimming pool, with water fun as the main content.

Water fun sports include: water dumplings; bench planing; Treasure fishing at the bottom of the pool; Heroes save beauty; Swim across with weights.

6.CS field. CS field game is actually a game that imitates army combat, participants are wearing various military uniforms, holding toy BB guns, equipped with various field equipment, shuttling between the jungle, showing a variety of formations, personal skills, all into the role of a soldier or general.

7.Precautions. If it is judged that it is likely to rain that night, the camp and the tent should be treated with the necessary rain, in addition to choosing a good campsite, you need to dig a flood ditch, strengthen the tent and enhance the rainproof performance, such as you can cover the tent with rainproof plastic sheeting, raincoats, etc., and place various travel supplies in the tent.

To prevent rain, you should observe the weather changes before camping, and if you travel often, you will be able to master it by observing and accumulating more experience.