China News Service, Beijing, February 29 (Shao Meng) "Butterfly Baby", "Porcelain Doll", "Moon Child" and "Sticky Baby"... Behind these fairy tale-like names are rare diseases that are difficult to cure and the suffering of countless families. bitter.

　　February 29 this year is the 17th International Rare Disease Day.

The World Health Organization defines rare diseases as diseases affecting 0.065% to 0.1% of the total population.

In my country, the "China Rare Disease Definition Research Report 2021" lists "diseases with an incidence rate of neonates less than 1/10,000, a prevalence rate less than 1/10,000, and the number of affected people less than 140,000" as rare diseases.

　　The 17th International Rare Disease Day Special Forum organized by the Capital Institute of Pediatrics was recently held in Beijing.

Gu Qinglong, deputy director of the institute, said in an interview with China-Singapore Health that for a long time, rare diseases have had problems such as low awareness and difficulty in diagnosis.

But at present, rare diseases in China are being diagnosed earlier and with higher detection rates, which is a good thing for patients.

Only with early detection, early diagnosis, and early treatment can the prognosis of patients get better and better.

Rare diseases are not “rare”

　　Mostly onset in childhood

　　Zhou Ming (pseudonym) is the parent of a child with spinal muscular atrophy (SMA).

SMA is a highly fatal and disabling hereditary neuromuscular disease. Without treatment and intervention, about 50% of children die before the age of 2 years.

"When the child was three or four months old, we felt something was not right. Compared with children of the same age, he moved very little and his motor functions were relatively slow. When he was five or six months old, genetic testing revealed this rare disease. , after searching on the Internet at that time, I really felt like a thunderbolt. But later I found that there are treatment and relief drugs, and the child's condition also improved to a certain extent after treatment at Seoul Children's Hospital. Don't give up and try your best," he said.

　　Regarding rare diseases, there is currently no unified and widely accepted definition standard in the world.

Gu Qinglong introduced that rare diseases have a low incidence rate and are also called "orphan diseases."

Most rare diseases begin in childhood and have a high incidence of hospitalization in pediatric hospitals.

"Many rare diseases are caused by genetic defects, so they may cause diseases involving multiple organs."

　　According to him, the Seoul Institute has taken the lead in conducting clinical trials of spinal muscular atrophy diagnostic kits and has made good progress, which will help achieve early diagnosis of the disease.

　　Although the prevalence of single rare diseases is low, patients with rare diseases are not uncommon in my country due to the large population base.

Jiao Yahui, director of the Department of Medical Affairs of the National Health Commission, previously stated at the 2023 China Rare Disease Conference that as of September 2023, my country has registered a total of approximately 780,000 rare disease cases.

Diagnosis takes a long time

　　Early diagnosis and early treatment are key

　　In Gu Qinglong's view, difficult diagnosis and long diagnosis time are problems faced by patients with rare diseases.

　　Gu Qinglong said that the diagnosis and treatment of rare diseases requires multidisciplinary and joint consultation.

"Some patients with rare diseases may have more than a dozen symptoms, involving departments such as neurology, hematology, endocrinology, and neonatology." Taking mucopolysaccharidosis as an example, he said that some children show spinal dysplasia, and some have spinal dysplasia. Some manifest as recurrent respiratory tract infections, some manifest as adenoid hypertrophy, and others manifest as facial roughness, etc.

Maybe parents often go to a certain department to see a doctor because of a certain symptom, and it is difficult to associate it with a rare disease.

　　He pointed out that in the diagnosis and treatment of rare diseases, early diagnosis will cause minimal damage to organs and is also very important for children to return to normal life.

"The organ damage that has been caused cannot be recovered. If the child receives effective treatment when the organ has just started to show signs of damage and there is no major damage, he may still be indistinguishable from a normal child." Therefore, doctors, families, It is important for individuals to raise awareness of rare diseases.

　　However, at present, with the tilt of national policies, the advancement of medical technology, and the improvement of doctors' awareness and attention to rare diseases, rare diseases in China are being diagnosed earlier and earlier, and the discovery rate is getting higher and higher.

　　"Take me as an example. I have learned more about rare diseases by constantly participating in rare disease-related activities. For example, if a child has symptoms of snoring, if I find that the child has rough skin or other abnormalities, phenomenon, in addition to checking his adenoids, I may also consider rare diseases. This is something I may not have thought of before. I think as technology advances more and more, there may be more and more Children with rare diseases return to normal society," Gu Qinglong said.

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