Faces of PVNH

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.

6 Responses to Faces of PVNH

  1. barbara seaman says:

    i am the mother of a 33 year old daughter who was diagnosed with pvnh filamen one related disease at the age of 22. i knew almost immediately that something was wrong with her. i was labeled an anxious mother but had a great peds dr who believed that while he c ouldnt diagnose what is was that there was enough evidence to send her on to specialists. Beths main issues were siezures and later development she was also mildly delayed educationally. we now have a neurologist by the name of dr michel berg at strong memorial hospital who really is our champion Big concern now is that beth married last year and is now expecting herself i am a wreck and her pb really does not see the urgency of genetic testing just today she finally made the referral for beth after much discussion and finally a call from beths neuro. i also sent all the information i had gathered over the years on beths disease process.

    • Monja says:

      It’s good to get lots of information for our children.I’m really curious!
      Thanks!Monja

      • barbara seaman says:

        She had a 4 hour visit with a genetic specialist yesterday and i am much relieved it is hard enough to have to be your childs best advocate but now i have a daughter and son in law looking at me saying where do we go from here! so i feel all the old struggles again we are fortunate that beths pvnh and seizures have been under such good control for the last ten years. Yesterday she had a 3 d ultra sound and an amniocentisis which should provide some big answers her prenatal bloodwork showed a positive marker for spina bifida which the genetic dr said she had not seen in pvnh patients before she feel this may be unrelated who knows but the ultrasound did not show any abnormalaties so now we wait for the amnio it is good to be able to share this stuff after all these years with other people for years in our town we did not know anyone else withpvnh

        • admin says:

          Barbara, please know that you and your family are in my thoughts. I invite you and/or your daughter to visit our Facebook group (a private one) where you can both meet up with families sharing your diagnosis: x-linked Periventricular Nodular Heterotopia (PVNH). You’ll need to ask to join the group and I guarantee you’ll get to interact with amazing people. All the best to you and yours.

  2. nicole camacho says:

    Dr’s think my son has this. Insurance is denying test!!!! Its so obvious to us and ALL the drs that he has it. Can someone tell me if there is a life expectancy? I could of sworn, I read that there was. He is 12 now. Plzzzzzzzz.

    • admin says:

      Nicole, what is the test that your insurance is denying? Has your son been diagnosed via MRI? You should consider joining the Facebook support group – there are families who were in your situation that got clearance with some persuasion. We also had to fight with the medical system in Canada to be able to get testing done. Don’t give up!

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