China's first foundation specially offering support to a type of rare disease has been set up in Shanghai.
The aim is to arouse more social awareness of Lysosomal storage diseases for patients and families and to push the exploration of new ways to help such patients.
Lysosomal storage diseases are a type of some 50 inherited metabolic disorders — including Gaucher Disease and Pompe Disease — that result from defects in lysosomal function and eventually cause organ failure and death.
Though there are medications for the diseases, their high cost and a lack of medical insurance coverage impose a financial burden on patients, many of whom have to quit the therapy.
“The new foundation is to look for new models on diagnosis, treatment and help to patients” with Lysosomal storage diseases, said Dr Li Dingguo from Shanghai Rare Disease Foundation. “We want to establish a new mechanism to give patients enough medical support and improve China’s medical capability on rare diseases, especially those that can be prevented, controlled and treated.”
There are 6,000 to 7,000 identified rare diseases in the world, influencing 0.65 to 1 percent of the population.
About 60 percent of the patients are children. There are about 16.8 million people with rare diseases in China.