Neurofibromatosis (NF) is known as the “most common of the rare disorders.” And yet, you’ve likely never heard of it until now. 1 in 3000 people are born with NF, a genetic disorder than can be inherited from a parent or present as a new mutation within a family.
To put it into perspective, it affects more people than Cystic Fibrosis, Duchenne Muscular Dystrophy and Huntington’s disease combined. To put it further into perspective, in Newfoundland and Labrador, with a population of approximately 527,000 people, ignoring the potential for family pockets, typically there would be about 176 people with NF. We don’t know the true numbers because until now there has been no NF registry.
So, what IS Neurofibromatosis exactly: Neurofibromatosis (NF) is a genetic
disorder that causes tumors to grow along nerve cells. There’s more to it than that, but that’s the simplest way to put it. Complications include blindness, deafness, learning disabilities, bone abnormalities, disabling pain, and even cancer.
Despite the devastating effects on families and individuals with NF, the disorder remains under-diagnosed and under-recognized. That is why raising awareness is so important. So that the disorder can be better understood and treated by our medical professionals as well as education communities.