Life with PVNH

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 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.

7 Responses to Life with PVNH

  1. Joe says:

    I’m so sorry about your daughtern- how old was she? My wife and daughter both have pvnh

  2. admin says:

    Hi Joe, Ella was 7 months and 20 days when she passed. Thank you for letting me know about your family. You and your wife should consider joining the PVNH Facebook group I created. There are 54 families all around the world and they support each other very well. Wishing you and yours nothing but good health, Yolaine

  3. joe says:

    hi yolaine,
    Sorry I didn’t see you reply sooner – Joining now.

  4. Christina says:

    Hello I have been reading the post and I have a daughter with PH. I have tried to locate the PH group you reference to on facebook but I have been unsuccessful in locating it. I was wondering if anyone could email and invitation to the group.

    Thank you

  5. admin says:

    Christina, so glad you found us. I will look into why you were unable to lcoate the group, it should have been found upon a simple search of PVNH on Facebook. Nonetheless, you found us, so we look forward to being able to support you in the best way possible. Yolaine

  6. I have pvnh I was 13 when the symptoms started showing. Since then it has been 1 thing after another that seems to be wrong with me. I have a daughter who will be 8 in October and she is not showing any signs that she has it. So, all I can do is pray & ask for prayers that this condition doe not affect my daughter. aEven though my mother and I are affected by it.

  7. admin says:

    Sorry to hear about you and your mom, but glad to hear about your daughter. There is now a public page for PVNH Support & Awareness on Facebook, in addition to the closed support group for which you need to send a request in and get approval before you can join. And big news: on August 7, 2012, we will celebrate the 1st World PVNH Support & Awareness Day!!! Wear pink or yellow, take a photo and post it, tweet (#PVNHsupport), Facebook or blog about it. The event is on the PVNH Support & Awareness page on Facebook.

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