Many rare diseases in children are unheard of, so how to talk about early detection and early treatm

1. Premarital and preconception screening to avoid pregnancy of children with rare diseases. Prenatal screening and prenatal diagnosis to prevent the birth of children with rare diseases. Newborn screening, early diagnosis and early ** before the onset of the disease in children, strengthening lifelong follow-up management, drug control, and effective control of the development of the course of the disease.

For the prevention of rare diseases, the level of early screening should be mentioned. Most rare diseases are hereditary. Now, with the rapid development of molecular biology technology, we need to do screening at the time of prenatal checkups.

Raising awareness of rare diseases among medical staff and the general public is fundamental.

2. There are about 10 million patients with rare diseases in China, much higher than the total number of cancer patients in China. At present, the medical community and society as a whole have limited understanding of many rare diseases, and most patients have been missed and misdiagnosed for a long time. For example, porcelain dolls may be misdiagnosed with calcium deficiency, paralysis in children:

People who gradually freeze may be misdiagnosed with cerebral palsy. Many rare patients don't even notice any disease, so they die early.

3. Early screening is the most economical and effective means to prevent rare diseases, if you can tell patients and parents in the same family as soon as possible that they may have healthy children, help their families have a promising future, and promote prenatal and postnatal care, this is the importance of screening. At present, the definition of rare diseases is not uniform. Although the incidence of rare diseases is very low, there are many kinds of diseases, and the Chinese population base is very large, so the total number of rare diseases is very large, so there may be many rare medical records in the world.

4. At present, the rare diseases that are more recognized in China are mainly concentrated in diagnosable and preventable diseases. Traditional diagnostic methods include karyotyping, which requires cell culture and requires a long diagnostic cycle. The diagnosis rate is low and requires a lot of manpower; Traditional biochemical testing, although biochemical testing is necessary, but biochemical testing will change with the human condition, and the diagnosis requires several follow-up dynamic observations, which can easily lead to some disease delays**.

Because many rare diseases are brought out of the mother's womb, it may also be that when they are just born, they are not well cared for and examined, so it is necessary to do some examinations as soon as possible, because many diseases are very easy in the early stage, and if they are delayed in the later stage, the consequences are very serious and very difficult.

Some diseases will have some signs, if you can get timely **, then you can effectively prevent diseases, can also enhance physical fitness, can also avoid these lesions more serious.

This statement is very correct, because some diseases have some precursors, as long as you grasp it well, you can get timely **.