Although I lived with PVNH all my life, I never knew it. That is until Ella’s diagnosis was confirmed in October 2009.
On the other hand, I was very much aware of my health issues: heart murmur, asthma-like symptoms that medication did not seem to treat very well, a scoliosis, early onset high blood pressure, apical bullaes on my lungs, a back that gives out for just about any simple reason such as turning in my sleep and an unexplained blood disorder thought to be Immune thrombocytopenic purpura (low platelets) which caused my transparent skin to bruise super easily. But as I reached adulthood, one other issues because more flagrant: I suspected I was mildly dyslexic.
It turns out that most, if not all of my issues, can possibly be linked to the rare disease I have: X-Linked PVNH caused a Filamin A (FLNA deficiency) and which Ella inherited.
As I researched PVNH and X-Linked PVNH after Ella’s passing, it became evident that the range of symptoms was so wide that very few people actually experience them to the same level. For example, my mom has some markers of X-Linked PVNH, my symptoms were more significant than hers and Ella’s were a lot more than mine.
When you are talking about a disease that affects less than 1 in million people (which is the prevalence defined by orpha.net for X-Linked PVNH caused by FLNA deficiency), it makes for very few comparisons one can draw on. And yet, there are similarities amongst all the cases of PVNH I have become familiar with in the last 13 years.
Children and even adults affected by PVNH may not be diagnosed easily. They may struggle for years with mobility issues (some children cannot walk easily and must wear braces), learning difficulties and/or dyslexia, cardiac problems, lung issues, blood disorders and other physical problems before obvious signs like epilepsy surfaces, if it ever does. And often, epilepsy is the first clue.
For those affected by epilepsy, understanding the “why” of possible triggers is an ongoing challenge. And finding the right balance of medication to efficiently control seizures appears to be just as difficult.
I invite you to visit Faces of PVNH to learn more about how families are affected by PVNH.