As is the case with rare diseases, the range of symptoms in people affected by PVNH can be so broad that no two cases appear to be related. Take Ella’s case and mine for example. She had end-stage emphysema by the time she was born; I have asthma-like symptoms only. And yet, we have the exact same genetic deletion of the Filamin A gene.
Through Faces of PVNH, I will introduce to some of the families I have met “virtually” since 2009 in my quest to get answers on PVNH and who/how it affects others in comparison to my family. The “patients” you will meet here are identified my first name, age, location and I will attempt to report to the best of my abilities how PVNH is affecting them. Not all have an X-linked form, not all have a FLNA mutation/deletion, not all have the same symptoms, but many have similarities in their cases and all of them have PVNH confirmed by MRI. They are part of a group of “select” families who share a common diagnosis. As of March 2011, there are 40 families affected by PVNH besides my own that I am in contact with.
All of them collaborate with and support each other, and with new families that reach out to us.
All of them have become PVNH advocates.
All of them are now part of my family.
* Please note that for privacy reasons, some photos of patients are not shown with their history of PVNH.