Rare disease treatment: the hard work of the trough of life

Henan Daily client reporter Li Qian

The movement of life was a leap when it fell into the trough.

In early August, at the hematopoietic stem cell transplantation ward in the provincial children's hospital, Ms. Wang from Hebei was embraced and slept for 10 months. The turnaround also happened.

Mu Mu was diagnosed as a self -destructive appearance syndrome, also known as Lesch -Nyhan, which is currently the third case in our province. Mao Yanna, director of the hematopoietic stem cell transplant ward of provincial children's hospitals, told reporters that this is a rare disease, with an incidence of about 380,000, and the onset of the disease is more than 1 year old. Due to the lack of a child's body lack of a variety of eblotic phosphate, the nucleotide metastases that cause purine nucleotide remedy cannot be performed, resulting in excess uric acid imbalance with nucleotide.

From the disease name "Self -Destroyer appearance syndrome", it can be thought that the symptoms of illness are related to external manifestations, such as slow growth and development, muscle tone disorders and intellectual disorders, etc.; Sometimes, children will still have self -harm in growth. Such as biting lips, fingers, etc., some parents even have to pull off their children's teeth or use special protective suits on the child's mouth ...

However, the brutal reality in front of you: There are currently no effective treatment of this disease, and there are no clear treatment plans.

Mao Yanna was not the first time I encountered this disease. Earlier this year, a pair of twins in August was unfortunately diagnosed with self -destructive appearance syndrome at the provincial children's hospital.

After 4 months of transplantation of hematopoietic stem cells, Dabao's body grew the "enzyme" of life -saving. "This is a good start and a beneficial attempt. When there is no better treatment plan, a change can make the family's family see hope." Mao Yanna said.

"Sometimes cure, often help, always comfort." Doctors and patients in the field of rare diseases are more tender and mutually understanding. Because the vast majority of rare diseases can not be "cured", and the help, comfort and companionship from doctors often become the beam of light that leads the rare sick friends out of the predicament.

Mao Yanna told reporters that rare diseases because they knew few people, and the misunderstanding rate was highly clinically diagnosed. Once diagnosed with difficulty, many parents' first reactions are to take their children to a large hospital in Beijing and Shanghai. The process of waiting in line will delay the best time to treat ...

This is also the predicament of countless children with children. According to the latest "Guiding Opinions on Further Importing and Implementing Active Paternal Support Measures" released by the National Health and Health Commission, during the "Fourteenth Five -Year Plan" period, investment support in the central budget support to develop the construction project of about 10 pediatrics national regional medical centers to promote pediatric medicine The construction of the consortium promotes the sinking and balanced layout of high -quality pediatric medical resources.

Henan is a large population province. There are more than 20 million children, which allows more patients with major patients to optimize the illness at their doorstep and enjoy a better level of medical services. Our province is constantly exploring experience.

Since 2019, the Provincial Government and Beijing Children's Hospital have co -established the Zhengzhou Hospital of Beijing Children's Hospital. As the project of the National Children's Regional Medical Center for more than three years, more and more children do not have to run Beishangguang anymore. It has also achieved significant results. Data show that last year, children's rare diseases were rare for children with rare diseases, ranking first in the province.

- END -