On February 28, Ms. Yin from Ningxiang City took her 5-year-old and 9-month-old son Doudou to Hunan Provincial Children's Hospital for follow-up. Since she was a child, Ms. Yin found that her son had high muscle tone, and slower, crawled, and spoke more slowly than children of the same age, but she could not find a specific cause after visiting many hospitals.
It is also difficult to find a specific cause of Liu, 75, of Changsha. A few days ago, he suddenly had weakness in his left limb, and his family thought it was a stroke, and hurriedly sent him to the Department of Neurology of Hunan Provincial People's Hospital, and the doctor found that the cause of his "hemiplegia" was not a common cerebral infarction.
Old and young, they all suffered from rare diseases.
February 28 is International Rare Disease Day. Experts remind that "rare diseases are not rare", and it has a strong correlation with heredity. There are 13 cases, please get genetic counseling!
Diagnosis of rare diseases is difficult
According to the China Rare Disease Research Report, it takes 5.3 years and 2-3 visits to diagnose rare disease patients per person. Patients often travel to multiple departments, spending a lot of time and effort. Yang Jianwen, director of the third ward of Shennei of Hunan Provincial People's Hospital, said that Grandpa Liu has had similar situations twice in the past 10 years, and has twice been diagnosed with viral meningitis due to headaches and mental and behavioral abnormalities. However, his condition worsened this time he was hospitalized, and he developed seizures and confusion.
Ms. Yin, from Ningxiang City, Changsha, kept running to the hospital but could not find the specific cause of the child. It was not until 2022 that under the guidance of experts such as Professor Wang Hua, member of the prenatal diagnosis technical expert group of the National Health Commission and vice president of Hunan Children's Hospital, the cause was clarified through special examination.
More than 80% of rare diseases are caused by genetic factors
The diagnosis of rare diseases often requires a combination of multidisciplinary forces, testing the experience of clinicians and disciplinary teams. Yang Jianwen introduced that it is understood that Grandpa Liu's twin brother behaves similarly to him, and in the past few years, dementia manifestations such as poor memory and slow response have gradually appeared. The hospital began genetic testing, and the corresponding mutation was found in one of Grandpa Liu's chromosomes, genetically confirming the diagnosis of neuronal intranuclear inclusion body disease.
Doudou also discovered the cause through genetic testing.
"Doudou is a child with autism and microcephaly, and the child was found to have a SETD2 gene mutation through examination. The mutation site carried by Doudou has not been reported in the world, and the functional test of the hospital scientific research platform has helped to interpret the pathogenicity of the mutation. ”
Wang Hua introduced that more than 80% of rare diseases are caused by genetic factors, including chromosomal defects, genomic defects, gene defects, etc., due to the lack of specificity of clinical manifestations, the diagnosis of rare diseases is still relatively difficult, which has also become a bottleneck problem restricting children's precise treatment.
Early diagnosis and early intervention, patients can even survive healthily with the disease
Grandpa Liu's neuronal intranuclear inclusion disease is a very rare genetically related neurodegenerative disease, which currently has no effective treatment, but early intervention may slow down the disease process and improve the quality of life of patients.
Yang Jianwen introduced that although rare diseases are called "rare", they are not rare, according to statistics, there are more than 7,000 rare diseases in the world, accounting for about 10% of the total number of human diseases. 80% of rare diseases are hereditary diseases, of which neurogenetic diseases rank first among all systems, accounting for more than 60%.
The "Healthy China 2030" planning outline emphasizes improving the diagnosis and treatment level of genetic diseases and rare diseases in mainland China, and screening, prevention, diagnosis and treatment of genetic diseases and fertility guidance is one of the key contents of the service plan.
According to statistics, there are more than 20 million patients with rare diseases in China, and 70% of them develop in childhood. "A large part of hereditary diseases are treatable, the key is early diagnosis, early intervention, and patients can even survive healthily with the disease." Wang Hua reminded that there are these 13 situations between husband and wife, and it is necessary to go to the Department of Medical Genetics for professional consultation, do a good job in eugenics and childbirth, and block the occurrence of serious disability, foolishness, and fatal birth defects——
1. Patients with positive or negative genetic tests;
2. Intellectual disability or developmental delay (including physical development, language development, and behavioral abnormalities);
3. Single or multiple congenital malformations and birth defects;
4. Have a history of adverse pregnancy or childbirth such as recurrent miscarriage, stillbirth, and neonatal death;
5. Age≥ Pregnant women aged 35, or the age of the father of the fetus≥ 40 years old;
6. Positive newborn screening, prenatal screening or prenatal diagnosis;
7. Primary amenorrhea or abnormal sexual development;
8. Unexplained infertility;
9. Patients or other members of the genetic disease family;
10. Couples with a history of marriage between close relatives or close relatives in the family;
11. Couples who want to undergo three generations of IVF or prenatal diagnosis;
12. Genetic evaluation before key surgery/treatment for patients with unknown etiology or couples who have doubts about the genetic factors of any other disease;
13. Couples with a history of exposure or exposure to environmental teratogens.
Source | Hunan Daily New Hunan Client
Reporter | Wang Mingjun Zhou Wei Editor | Zhao Zeqin Guo Tingting (internship) proofreading | Zhang Yongqiong, Xia Hong
Review | Liu Ying