International Rare Disease Day The struggle of 300 million families and how rare rare diseases reall

International Rare Disease Day: The Struggles of 300 Million FamiliesRare diseases are very rare, and the probability of a typical rare disease is about 1 in 500,000

Each of us may have some diseases in our lives, such as colds, arthritis, high blood pressure, etc., but some diseases are different, they are very rare, and the chance of disease is relatively small. Rare diseases, also known as rare diseases, are generally of unclear causes, mostly congenital diseases or hereditary diseases, and are also known as orphan diseases. Rare diseases account for the total number of affected peopleIt is a difficult** but very low prevalence

Now there are more than 8,000 rare diseases in the world, but only one in 1,000 can be used as good as drugs, so it is difficult for rare diseases in general. With the continuous improvement of China's economic and social development, people's attention to health is not limited to ordinary diseases, whether it is a common disease or a rare disease. <>

The range of damaged organ systems or tissue cells involved in rare diseases is very wide, and the departments that go to the hospital, such as internal and external women, children, eyes, ears and noses, may be involved in rare diseases, so the symptoms related to rare diseases are also varied. And nearly 80% of rare diseases are caused by genetics, and many of them are caused by genetic mutations, because genes are constantly mutating in the process of human evolution. As a result, diseases caused by genetic mutations will continue to appear, and there may be patients with rare diseases in our vicinity.

For exampleLaminar ichthyosisYou may have heard of this disease, and I am also a very rare disease. This disease can be very painful, the surface of the body will be bothered by a layer of fish scales, and there will often be the pain of wound tearing, ugly and like dead skin, which cannot be rubbed off, and will only slowly fall off. And there isUnatahn syndromePeople with this disease will walk like ancient animals, with both hands and feet on the ground, constantly climbing, and IQ will also have hindering problems, and is currently ranked third in the world's top ten rare diseases.

And there isAcromegalyAcromegaly is a disease caused by excessive secretion of growth hormone due to excessive hyperplasia of the hypothalamus and pituitary gland. <

Rare is relatively rare, difficult to diagnose and difficult to diagnose, and also because there is no method. Problems such as high levels of medicines have led to many families becoming impoverished due to illnessThey need the attention and help of the whole society. We need to advocate non-discrimination, not to exclude rare patients, and to do our best to help patients with rare diseases as much as possible.

A few in a thousand, a few in a ten-thousand, and even a smaller chance to get it, and some even don't even have a few in the world.

Rare diseases are very rare because we don't usually see them. The probability of this disease is very small. But it was very painful.

Rare diseases refer to rare, chronic, and serious diseases, with a probability of occurrence of 1 in 10,000, and currently known rare diseases account for about 10% of the total human diseases.

Rare diseases, also known as rare diseases, have unclear causes, and are mostly congenital or hereditary diseases, also known as orphan diseases. Rare diseases account for the total number of people affected, and they are difficult to ** but have a very low incidence rate. The following categories of rare diseases are more common:

1. Albinism, albinism is a series of syndromes caused by genetic mutations that cause defects in melanin production.

2. Acromegaly, acromegaly is a disease caused by excessive secretion of growth hormone caused by excessive hyperplasia of the hypothalamus and pituitary gland.

3. Idiopathic pulmonary hypertension.

4. Phenylketonuria.

5. Mitochondrial disease.

Hello, the World Health Organization defines a rare disease as a disease or lesion that affects the total number of people in the total population. However, the definition of rare disease varies from country to country, and in the United States, all diseases occur within the country. Diseases that affect less than 200,000 people are considered rare; In Japan, it is defined as a rare disease if the number of people with less than 50,000 people is defined as a rare disease. In Taiwan Province, the annual prevalence rate of less than 1 in 10,000 is used as the standard for the prevalence rate of rare diseases in China.

If you have any doubts, please ask, understand, thank you.

There are more than 20 million patients with rare diseases in China, so how difficult is it for rare diseases? The answer is very difficult, first of all, it is rare** is too rare, and many doctors do not know how to judge it when diagnosed; secondly, there is a rare disease that does not know how to use medicine; Finally, the disease is expensive, and many people often cannot afford medical treatment.

1. It is difficult to be judged at the time of medical treatment

Because doctors have not been exposed to similar symptoms before, or because rare diseases themselves are rare, doctors cannot accurately identify patients with incurable diseases, which makes diagnosis more difficult. Even if the final case is identified, it may deteriorate because the time delay is too long, and the condition cannot be obtained in time**. Therefore, the difficulty of diagnosis is a major stumbling block for this type of disease.

Second, doctors dare not use drugs

Drugs usually have some side effects. Although China is paying more and more attention to rare diseases, a complete system has not yet been formed. This means that the disease is different from ordinary conditions, and there may be potential risks every time you take the drug.

In this way, as a doctor who hopes that the patient's condition will be the best as soon as possible, he does not dare to let the patient use some drugs that can treat the disease at will, for fear that the type of disease will bring major side effects, otherwise it will have an aggravating effect on the human body.

3. Rare diseases are expensive

Even if rare diseases can be diagnosed and they know what drugs to use, there will still be many patients who are not good, because they can't afford to pay for expensive diseases, so they can only retreat. According to the relevant data survey, the annual out-of-pocket expenses of patients with rare diseases have exceeded 50,000 yuan, which is a big problem for some rare disease patients from remote areas, so every year, about 15% of people choose not to pay the cost of **, and the outcome is heart-wrenching.

It is very difficult to get rid of rare diseases, because there is no way to deal with these diseases, and the probability of them is particularly low, and there is still a lack of medicine, and there is still a lot of confusion about these diseases.

Rare diseases** are difficult because there is no special drug to fight it, and it takes a long time to develop a drug.

Only about 5% of rare diseases can be treated, and the rest of the people have no way at all** and can only be maintained with drugs.

According to the definition of the World Health Organization, rare diseases are diseases with a low incidence and a small number of cases, and the general number of people only accounts for 19% of the total population. The exact ** of this disease is unknown, and most of them are congenital diseases, such as ALS, rabbit layer, congenital heart disease, albinism, thalassemia, etc.

Rare diseases are not uncommon, they are all around you and me. At present, there are more than 300 million rare disease patients in the world, accounting for about 4% of the total global population, which also means that on average, one in every 25 people has a rare disease patient.

Rare diseases are mainly caused by genetic defects, and some are caused by infection or allergic reactions, degeneration or proliferation of the body. Rare diseases have become one of the important causes of death in children under the age of 5 in China, and many patients have been diagnosed with rare diseases at birth or in childhood.