Rare diseases are by their very definition rare. In the past, this has often meant that when patients and families received a clinical diagnosis they would spend their lives in insolation, not knowing how to contact other people with similar disorders or even knowing if there are any other people with the same condition.
Thankfully this is no longer the case. With today’s widespread use of the internet and increase in genome sequencing, it is now possible to find and contact families who have the same genetic disorder. This allows families to join together, raise funding and awareness for their condition with the overall aim of discovering a cure for their rare disease. Meanwhile providing huge amounts of support for one another.
In our latest patient story for Congenica’s Opening the Black Box series - in which we reveal the patient’s journey, from spotting healthcare challenges through to genetic testing and a diagnosis - we interview Luke Rosen and his daughter Susannah’s physician, Wendy Chung.
Luke speaks openly about his family’s journey to discover the cause of Susannah’s rare disease, and the unique, collaborative approach to building KIF1A.ORG - a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder and accelerating research to find a cure.