Chinanews.com, Hefei, February 28 (Cao Jie, Fang Wen, Zhang Qiang) "Porcelain doll" (Osseogenesis), "Moon Child" (Albinism), "Butterfly Baby" (Epidermolysis Bullosa), "Blue "Sister Mei" (lymphangiomyomatosis)... But behind these poetic names, there are pains that ordinary people cannot imagine.
A reporter interviewed at the First Affiliated Hospital of China University of Science and Technology (Anhui Provincial Hospital) on the 28th and learned that the chief physician Hu Xiaowen of the hospital admitted a special patient at the end of 2019.
The 54-year-old Sister Wang suffers from diffuse cystic lesions of the lungs and recurrent pneumothorax. Since a pneumothorax occurred three years ago, she has been troubled by recurrent pneumothorax.
Sister Wang's diffuse cystic disease, repeated pneumothorax, skin damage, kidney disease... After discussion and genetic testing by the expert group of the First Affiliated Hospital of the Chinese University of Science and Technology, it was finally confirmed as BHD syndrome.
Data map: Multidisciplinary experts consult for patients with rare diseases.
Photo by Cao Jie
BHD syndrome is a rare autosomal dominant genetic disease characterized by cystic changes in the lungs, benign skin tumors, and various types of kidney tumors.
In the past 40 years, only more than 600 families with BHD syndrome have been reported globally.
Because of the genetic characteristics of the disease, Hu Xiaowen's team quickly carried out genetic screening on the relatives of Sister Wang. Five of Sister Wang's sisters, and Sister Wang's son and niece were all diagnosed with BHD syndrome.
Hu Xiaowen said that although there is currently no effective treatment and prevention method for BHD syndrome, timely targeted treatment can be taken after diagnosis to reduce damage.
The team and Sister Wang's family established a WeChat follow-up group to understand the changes in the condition, interpret the examination results, guide medication, and remind the follow-up visit. Sister Wang and her family are currently in relatively stable condition.
The last day of February every year is "International Rare Disease Day". This year's theme is "Gather for Rare, Help Rare Be Stronger, Take Rare Proud", I hope more people will pay attention to rare diseases and make love not rare.
According to the definition of the World Health Organization (WHO), rare diseases are diseases in which the number of patients accounts for 0.65‰ to 1‰ of the total population.
According to statistics, there are about 7,000 rare diseases in the world, and the number of patients in China is about 20 million, with more than 200,000 new patients every year.
"In China and the world, there are still relatively few doctors with the ability to diagnose and treat rare diseases, and misdiagnosis and misdiagnosis of rare diseases often occur." Hu Xiaowen introduced that most patients with rare diseases have a tortuous path to seek medical treatment, like the older sister of Sister Wang, who has spent 4 years. Pneumothorax occurred many times, and he went to hospitals in Zhejiang for medical treatment, but the cause was never found.
Therefore, relevant research needs to be strengthened to allow more people to "understand" rare diseases, so that rare diseases can be detected and diagnosed early.
It is understood that, in order to continuously improve the ability to diagnose and treat rare diseases, the First Affiliated Hospital of China University of Science and Technology has specially hired foreign experts and has maintained close cooperation with Peking Union Medical College Hospital for a long time.
In 2019, the National Health Commission issued the "Notice on Establishing a National Rare Disease Diagnosis and Treatment Collaboration Network", with 324 hospitals across the country serving as the collaborative network hospitals to form the Rare Disease Collaboration Network, and the First Affiliated Hospital of China University of Science and Technology was successfully selected.
Hu Xiaowen said that rare diseases are due to the scarcity of patients, and the scarcity of treatment drugs, treatment methods and doctors with the level of diagnosis and treatment of rare diseases makes it difficult for patients with rare diseases.
According to statistics, the average diagnosis time for rare disease patients is 5 to 8 years, which does not include the treatment time and recovery time after diagnosis. Most patients require life-long treatment.
About 80% of rare diseases are caused by genetic defects, and less than 5% of rare diseases can be effectively intervened or treated.
Hu Xiaowen reminded that you must go to a regular hospital for scientific treatment.
"Caring for rare diseases is one of the symbols of social civilization and progress in a country or region. It is becoming the consensus and action of the whole society to enable Chinese patients with rare diseases to be diagnosed and treated early, and medicines are available and affordable." (Finish)