China News Service, Guangzhou, February 26 (Reporter Cai Minjie) International Rare Disease Day is approaching.
In order to gradually realize the goals of early diagnosis, early treatment and standardized management of rare diseases, the Guangdong Rare Disease Diagnosis and Treatment Network Lysosomal Storage Disorders Diagnosis and Treatment Collaborative Group was established in Guangzhou on the 26th.
Professor Huang Haiwei, head of the lysosomal storage disease diagnosis and treatment cooperation group of the Guangdong Rare Disease Diagnosis and Treatment Network, and Professor Huang Haiwei of the Department of Neurology of the First Affiliated Hospital of Sun Yat-sen University, said that the establishment of the cooperation group can help further alleviate the "difficult diagnosis, treatment and difficulty of current patients". management”, and improve the diagnosis and treatment capabilities of rare diseases in Guangdong.
Lysosomal storage diseases are a group of rare inherited metabolic diseases, including Pompe disease, Gaucher disease and Fabry disease, etc. Its effective enzyme replacement therapy drugs have been approved for marketing in China, which is one of the few A group of diagnosable and treatable rare diseases.
However, like most rare diseases, due to the lack of public awareness of the disease and the lack of corresponding diagnosis and treatment capabilities of grassroots doctors, patients are often not diagnosed and treated in a timely and accurate manner, and their illness is delayed.
Taking Pompe disease as an example, more than 80% of patients have been misdiagnosed, and more than 90% need to go through multiple hospitals to be diagnosed.
42.4% of the patients needed 1 to 5 years to be diagnosed, 13% of the patients needed 6 to 10 years, and 2.2% of the patients needed more than 10 years to be finally diagnosed.
"If patients do not receive timely and effective early diagnosis and standardized intervention, they may be disabled or life-threatening. Therefore, how to improve the rare disease diagnosis and treatment capabilities of grass-roots doctors has become a difficult problem in my country's rare disease prevention and control work." Huang Hai Prestige.
In 2019, with the support of the Guangdong Provincial Health and Health Commission, the Guangdong Provincial Rare Disease Diagnosis and Treatment Collaboration Network was established, establishing a smooth and complete cooperation mechanism to provide relatively centralized diagnosis and treatment and two-way referrals for rare disease patients in Guangdong Province.
Today, 25 hospitals have participated in the work of the Guangdong Rare Disease Diagnosis and Treatment Network.
As of October 2021, Cooperative Network medical institutions have registered 14,250 cases in the "China Rare Disease Diagnosis and Treatment Service Information System".
Chen Li, inspector of the Guangdong Provincial Health and Health Commission, said that the lysosomal storage disease diagnosis and treatment cooperation group established this time is one of the first six rare disease single-disease diagnosis and treatment cooperation groups established in the province, marking a rare disease in Guangdong Province. The prevention and control work is gradually refined and implemented, and the working mechanism is innovated.
While improving the comprehensive diagnosis and treatment of rare diseases, the medical insurance of rare disease patients also needs to be paid attention to.
Huang Haiwei said that based on their own actual conditions, all regions of Guangdong Province are actively exploring the rare disease protection model with regional characteristics, such as government-guided, market-led, inclusive commercial health insurance that is effectively connected with the city's social medical insurance: Guangzhou's Suisuikang, Ping'an Buddha in Foshan, etc., have guaranteed the medication for patients with rare diseases.
According to reports, 20 core hospitals have become the first batch of member units of the lysosomal storage disease diagnosis and treatment cooperation group of the Guangdong Rare Disease Diagnosis and Treatment Network, and will form a "province-city-district" three-level expert linkage system to establish diagnosis and treatment of various diseases. Standardize and refer patients to the mechanism, fully integrate the collaborative network and the resources of experts in various diseases, and protect the rights and interests of patients in medication.
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