A significant part of NDF's mission is preventing and suppressing the symptoms of GNEM in patients through screening and public education. NDF values the importance of educating physicans about this rare diesase.
We focus on educating the public about carrier screening aids, particularly for those in populations with higher carrier rates. Clinical studies repeatedly show that early detection is key in minimizing the progression of GNEM, also allowing carriers to make educated decisions when considering family planning. This can reduce the chances of passing on the gene.
This program also focuses on meeting with physicians and OB-GYNs, many of whom may not be aware of the details of this disease or the latest developments in the treatments. This program is intended to prevent misdiagnosis and explain the importance of (anonymous) patient registries.
Photos below show patients and scientists at the International Congress for Neuromuscular Disease in Toronto.