World Rare Disease Day: Experts call for “making rare disease experts no longer rare”

“Rare diseases are rare, and rare disease experts are even rarer. How to make rare disease patients find rare disease experts faster is our pursuit. At the same time, our rare disease experts also have the responsibility and obligation to train more medical staff, Let more medical staff know about rare diseases and care for rare diseases.” On February 28, the 15th World Rare Disease Day, Huang Gengwen, director of the Medical Department of Xiangya Hospital of Central South University, called for more efforts to cultivate rare disease experts. On the same day, the reporter learned that Hunan Province took the lead in establishing an online platform for the diagnosis and treatment collaboration network, so as to more conveniently enter rare disease data and master rare disease resources. The province also launched the first batch of rare disease MDT expert teams in Changsha a few days ago, with 16 “collected” experts.

In recent years, the society has been paying more and more attention to rare diseases, and progress in the research and development of rare disease drugs, the negotiation mechanism of rare disease drugs, and the inclusion of rare disease drugs in the medical insurance catalogue have brought dawn to patients. and hope. At the end of April last year, Hunan started to launch the Rare Disease Diagnosis and Treatment Collaboration Network to promote the standardized and orderly development of the diagnosis and treatment of rare diseases, improve the awareness, diagnosis, treatment and management of rare diseases in various medical institutions, and provide early diagnosis and treatment for rare disease patients. and convenient diagnosis and treatment channels to help reduce the medical burden of patients and safeguard the health rights and interests of patients with rare diseases. At the same time, Xiangya Hospital of Central South University has pioneered the whole course management service for rare diseases in Hunan Province. It uses the “Internet +” information technology to build a whole course management system through cross-team cooperation, and realizes the “online + offline” service between medical staff and patients. “Interaction, the medical consortium unit “in-hospital + out-of-hospital” information exchange, creating a new closed-loop disease cycle management model that runs through the patient’s medical treatment “pre-hospital, in-hospital, and post-hospital”.

This year’s World Rare Disease Day, Xiangya Hospital took the lead in launching a training course on new advances in rare disease diagnosis and treatment, multiple sclerosis patient activities, spinal muscular atrophy (SMA) patient activities, large-scale free clinics and rare disease science Publicity, as well as various activities such as large-scale free clinics for rare diseases, in order to improve the construction of rare disease diagnosis and treatment collaboration network, promote rare disease medical management work, improve rare disease diagnosis and treatment capabilities, and further call for the care and assistance of the society for rare disease patients.

“We hope that the Rare Disease Day series of activities will help patients “have a cure for their disease”; cooperate with public administration agencies to improve the accumulation of real data in the field of rare diseases, provide a reference for the improvement of rare disease policies, and help “disease diseases” There is protection’; hand in hand with public fundraising institutions and Internet fundraising platforms, and mobilize patients to ‘difficult to help’.” Huang Gengwen said.