Much like a unicorn, just because you haven't met someone with your disease, does not mean they don't exist.  

Welcome! You may be here because you, or someone very close to you, has recently been diagnosed with an ultra rare disease: a condition so rare that it seems like no one else in the world has it. But much like a unicorn, just because you haven’t met someone with your disease, doesn’t mean they don't exist.  The goal of this website is to help you locate and use the many resources that are available to assist you in finding others with a similar diagnosis.

A genetic condition is something you, or your child, or even your friend may have been living with since birth, even if it was only recently diagnosed. The disease may not even have a name yet. As new types of genetic testing become available, N-of-1 diagnoses are occurring more often. N-of-1 diagnoses are a term for genetic diseases that have not previously been described in the medical literature. Often they are only labeled by a gene name.

Getting this sort of diagnosis can make you feel confused and isolated. Medical professionals can try to help, but the information they have to offer is often limited in these early days of genetic technology. You are not alone! Experience shows that connecting with other individuals or families with the same or a similar condition can be extremely helpful as a source of emotional support and medical advice. Other families may also help point your doctor toward new therapies and better information about prognosis. We want to help you find your own N-of-1 community!