So, now we know, It's called PVNH...
But really, what does that mean?
First, a name...
Periventricular Nodular Heterotopia...
Then, a lesson in medicine...
A rare disease characterised by some neurons taking a wrong turn and not ending in the proper location in the brain, causing some havoc along the way...
Passed on from mother to child, it is thought to be lethal early for males (future posts will show you this theory does not hold true anymore)....
This condition, like so many of the nearly 8,000 rare diseases identified, can also happen spontaneously - that is with no other family link found...
In medical litterature, PVNH is described as a disease associated with a mutation in the gene which produces a protein called Filamin A (FLNA), a binding protein....
To this day, our genetic team tells me that Ella's case was actually not a mutation but near complete or complete deletion of the gene...
This, as far as they know, has never been documented to date...
But I told you Ella was a zebra... And zebras are no horses...
So in true Ella fashion... Ella's symptoms did not really reflect the typical symptoms expected with this disease...
No delay... No seizures... No hyperflexible joints...
But there was a cardiac defect, something which helps put weigth on the PVNH diagnosis... And then, the neuronal migration defect was there too...
But the biggest symptom Ella had...
Cannot be explained clearly and definitely by PVNH...
To this day, it is impossible to confirm...
That Ella's PVNH caused her end-stage emphysema on both lungs...
And that, is the reality of rare diseases...
While I am blessed to have a diagnosis...
A luxury many families affected by rare diseases are not granted...
I continue to search for answers....
Answers on what happened to Ella...
Answers on what it means for my family...
The one Ella and I have...
And the one I am wishing to grow in her memory...
ELLA - Everyone Loves Little Angels
You do not know me. You have my prayers. My thoughts, and my love. Thank you for posting. If you only knew how many times I have googled the words... Paraventricular Heterotopia... to find no answer. I adopted a little boy, who has all of the symptoms minus the heart defect, along with many more. Please know that I am truly grateful for your posting.
ReplyDeleteDear Kritie,
ReplyDeleteI just found your comment today. It's been a while since I've been on the blog, and even longer since I last wrote. I am so glad you found me. The good is you are NOT alone. Not only am I here to help you but there are a group of parents who share the same diagnosis in their families that are now collectively helping each other. The group is called X-liked Periventricular Heterotopia (PVNH). Not all families actually have had the confirmed x-linked diagnosis but regardless, we share information and support each other as best as we can. The group is on Facebook, and can be accessed even if you are not a member:
http://www.facebook.com/home.php?#!/group.php?gid=195006047174&ref=ts
There is also a few more moms who share this family diagnosis on Circle of Moms.
I look forward to hearing from you. Sending you nothing but good health for you and your family.
Yolaine