Chao News client reporter Sui Xue correspondent Zhu Yao Ling Chen Mengqian.
I didn't expect such a thing as a rare disease to happen to our daughter. ”
Thinking about it, we were fortunate to do the newborn genetic screening project at that time, which not only saved our daughter, but also saved ourselves. ”
A few days ago, Beibei's mother took Beibei to the National Clinical Research Center for Child Health and Diseases and the Department of Genetics and Metabolism of the Children's Hospital Affiliated to Zhejiang University School of Medicine for a follow-up, and sincerely expressed such feelings. Bei Bei is a baby born in the Spring Festival of 2022, and her parents are a young couple born in the 90s, as the crystallization of love, her arrival makes them feel extremely happy.
After Bei Bei was born, she was routinely screened for neonatal diseases and three drops of blood were collected on the soles of her feet. At that time, the doctor asked them if they would like to participate in other disease screening studies. The couple thought it would be better to participate, and it should be the first health gift for their daughter.
What they didn't expect was that their inadvertent choice could be said to have saved the fate of their children and families.
Source: Visual China.
Genetic screening showed that the child had SMA
It is the number one killer of genetic diseases in infants and young children under the age of two.
Time back to two years ago, about 19 days after Bei Bei was born, Bei Bei's mother received a ** from the Zhejiang Provincial Neonatal Disease Screening Center, and was told that Bei Bei's newborn screening results indicated that the child may have spinal muscular atrophy (SMA) and needed to seek medical attention as soon as possible for examination and a clear diagnosis.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by mutations in the motor neuron survival gene 1 (SMN1), resulting in a neuromuscular disease characterized by muscle weakness and amyotrophy. SMA patients can present with hypotonia, significantly backward motor development, unable to walk independently, and even life-threatening, with high disability and mortality rates. As the number one killer of genetic diseases in infants and young children under the age of two, SMA was included in China's "First Batch of Rare Diseases" catalogue released by the National Health Commission.
At the moment of hearing the news, the couple looked at their lovely daughter in front of them and couldn't believe such a result. So they immediately came to the Department of Genetics and Metabolism of Zhejiang University Children's Hospital for treatment. Eventually, genetic testing confirmed that Bei Bei was a child with SMA, and if she did not undergo **, she was likely to develop the disease within 6-18 months, resulting in abnormal neuromuscular development and may even be life-threatening.
In addition to pain and sadness, Beibei's parents are puzzled, they and their lover are normal, and no one in the family suffers from a rare disease, why does the child have this genetic disease?
Deputy Chief Physician Yang Xin, Deputy Director of the Department of Genetics and Metabolism of the Children's Hospital of Zhejiang University, answered their questions: "About 1 in 50 people in China is a carrier of the disease-causing gene of SMA. Yang Xin said.
Screening for ** Gain Time:
It became the first case of SMA in China before the onset of the disease.
Deputy Director Yang Xin said that as a child with rare diseases, Beibei is undoubtedly unlucky, but fortunately, she underwent neonatal genetic screening after birth, and the disease was detected and diagnosed very early before the symptoms appeared.
We began to promote the neonatal genetic screening project in the clinic in 2022, and Beibei was discovered in the research stage before clinical promotion, so it is the first child with SMA diagnosed through genetic screening, and it is also the first child with SMA in China to receive a special drug before the onset of the disease. Yang Xin said.
Under the joint guidance of experts from the Department of Genetics and Metabolism and the Department of Neurology of the Children's Hospital of Zhejiang University, and with the full cooperation of her parents, Beibei received nusinersen sodium injection when she was less than 2 months old.
It was obtained before the onset of the disease, so that Bei Bei has the ** effect that other children with SMA dare not imagine: now 2 years old, the development is basically the same as that of normal children of the same age.
Her situation is unimaginable for other children who did not get **, or who only got ** after the onset of the disease. Yang Xin introduced that the "Expert Consensus on Newborn Screening for Spinal Muscular Atrophy (2023 Edition)" mentioned that the sooner children with SMA use disease-modifying drugs, the better the prognosis.
Thanks to the Children's Hospital of Zhejiang University, we were able to know about the disease before the child had symptoms. Seeing Bei Bei grow so well, Mom and Dad still feel extremely happy and grateful.
The Children's Hospital of Zhejiang University leads the era of neonatal genetic screening.
Daystar Initiative illuminates the future of children with rare diseases.
Chief Physician Yang Rulai, Director of the Department of Genetics and Metabolism of Zhejiang University Children's Hospital, said that Beibei can be detected and diagnosed early before symptoms appear**, thanks to the development of the new project of neonatal genetic screening in Zhejiang University Children's Hospital.
Newborn genetic screening refers to the use of heel blood for gene sequencing after the birth of newborns to carry out the risk of some relatively high incidence of monogenic genetic diseases, which is a new application of next-generation sequencing technology in the field of neonatal disease screening.
The current neonatal disease screening, as the first prevention and control system of social health, has played a very good role in the field of birth defect prevention and control. Relying on the strong clinical research capabilities of the Children's Hospital of Zhejiang University, Zhejiang Provincial Neonatal Disease Screening Center is responsible for the disease screening and management of newborns in the province.
Director Yang Rulai said that since the official launch of neonatal disease screening in Zhejiang Province in 1999, in the past 24 years, more than 20,000 cases of neonatal genetic metabolic diseases have been diagnosed, including congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, glucose-6 phosphate dehydrogenase deficiency, as well as amino acids, fatty acids, organic acid metabolism abnormalities and other preventable and treatable genetic metabolic diseases. The occurrence of disability has been avoided and great social benefits have been achieved.
Professor Shu Qiang, Director of Zhejiang Provincial Neonatal Disease Screening Quality Control Center and Secretary of the Party Committee of Zhejiang University Children's Hospital, introduced that Zhejiang University Children's Hospital took the lead in opening the research and exploration of neonatal genetic screening in China, and after national multi-center research, it demonstrated the application significance of neonatal genetic screening in the field of birth defect prevention and control, and officially launched the "Daystar" action of neonatal genetic screening in 2023.
Professor Shu Qiang said that he hopes that through the clinical application of neonatal genetic screening, the scope of existing neonatal disease screening will be expanded, the efficiency of birth defect prevention and treatment will be improved, the diagnosis and time of children will be moved forward, and the successful experience and effect of neonatal genetic and metabolic disease screening will be extended to more rare diseases, so that these children can get important genetic prompts before clinical symptoms appear like Beibei, and carry out early diagnosis and intervention. So that they can have a happy childhood and a healthy life like ordinary children.
Courtesy of the hospital. **Please indicate the source".