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oh for the love of neurology (or heterotopia)!

So remember the other day?



When I waxed all nostalgic about the great answer hunt in the crazy land of Infantile Spams. And things of that nature?



So...



Yeah...


...ummmmmm



...about that.



Seems I misunderstood Dr. Neuro's email. I shoulda waited for the phone convo before writing lengthy posts. Lengthy misguided posts. My bad.



::smile::



And I probably shouldn't be laughing right now either. But it is...really...kinda funny. And SO very me!



The thing is...I'm not WAY off base.



And to be fair. Her email was misleading! I emailed asking if it was Cortical Dysplasia. She emailed back "it is a migration disorder".



Well...so is CD! So they're in the same family. Both falling under the Malformations of Cortical Development (MCD) category.




The same. But different.



Ooops.



And without making this post overly long and boring. I'll try to relay what I learned.



Cortical Dysplasia (which is not the findings in Trevy's pathology) is a migration disorder that is a little more organized. And is thought to happen later during fetal development.



Heterotopia...also a migration disorder (and is Trevy's pathology) happens in the very early stages of fetal development. The word heterotopia is really just a fancy way to say "displaced". (Barbara may be able to better comprehend and explain some of these things! I recommend clicking over there regardless...cause her current post is a great read!) The neurons in Trevy's brain made it past the central region and began the migration upwards towards the top of his brain. But somewhere along the way the little neurons lost their way. And were confused. And are instead displaced. EVERYWHERE. Little itty bitty gray matter neurons are peppered throughout his white matter. So more specifically Trevor has Gray matter heterotopia. Albeit mildly.



Now...as Dr. Neuro said...how does this relate to neurology? Is this the cause of his seizures? What does his future look like?



We just don't know. (Neuro School theme song?)



But we do know that Trevor is responding (in the short term) fabulously to surgical intervention! We are now counting in the months of seizure freedom. Something we haven't done if a very very long time! And he is very very young! Of course I'd like to more fully understand how this new piece fits into the puzzle that is my son. Dr. Neuro too. But she was unable to find any helpful literature at all. She repeatedly reminded me that science is constantly discovering. And that Trevy will be The Literature for another family.



Which is in a way...comforting.



As is reminding myself that Trevy is still Trevy. Just as he was Given. His story is still his. Just like it's been Written.



But lesson learned. Next time I have a pathology report to report...



I'll wait for the phone convo first!

Comments

Katie Ireland said…
Ahhh Heterotopia...a much familiar word in the Ireland household...ours being the periventricular type for Miss Lauren.

I struggle with the why??? Infection?? Genetics?? No DNA testing for us offered unless we pay out of pocket...
Danielle said…
Genetics testing is OUTRAGEOUS too! I'm convinced that Trevor's MILD ARX change...is linked to his MILD heterotopia. ARX is known to impact migration. So it makes sense. Which is...of course...worrisome looking forward to Bristel's future.

But anyway...

Have you signed Lauren up for the Infantile Spasms Registry study? They are zoning in on genetics.

I finally printed out the consent forms...and am sending them out this week.

...danielle
Katie Ireland said…
I contacted them months ago and I am game, but my husband is not yet on board...
Sinead said…
I'm sorry to ask a stupid question but does that mean its all over the brain or just in the area they took out? Is it something that would show up on an MRI or is it too subtle.

We are doing EPGP by the way. Part of the study is on IS.
Danielle said…
Not stupid at all! I'm not sure that we'll really know until we can study the other side. Sometimes it can be large enough for an MRI to catch it. But Trevor's is very subtle...thus not visable with the MRI.

I think it's a very good sign that he's responding so well post surgery though. At least I'm trying to force myself to focus on that!

I emailed Chugani...and he said he's seen it before. According to him many times heterotopia and CD are found together. He didn't seem overly concerned or surprised.

...danielle
Colby said…
Glad to hear that, little by little, you are getting pieces to the Trevy Puzzle...

And the best thing is, he is still SO young that his current intervention should continue to work miracles for him!!!!

Cyndi
Anonymous said…
I was thinking I would not add, but if it is helpful to Sinead...without knowing whether both sides of his brain are heterotopic, they have figured-out which specific seizure configurations respond to the surgery. The surgery interrupted the seizure pattern or the source portion of the brain was removed.

The physicians seem to be explaining things as well as possible and I know a small fraction of what they know. danielle is a good translator (when she has the whole message). ;)
Barbara
Lori said…
Danielle my daughter Nora has heterotopia, arachnoid cysts, partial agenesis of the corpus callosum and had infantile spasms. Unlike Trevor, she stopped having seizures on her 1st round of ACTH 2.5 years ago. She will be 4 in Feb. We had the whole gammet of genetic testing done and we still have no diagnosis. you can read more about her at http://norafrances.blogspot.com/
if you want. It is so frustrating to have little pieces of the puzzle but nothing fitting together to make a big picture.

Lori
joanne foltz said…
Love the new header for the blogsite. I love that picture! Hug and kiss all the kiddos for me. Love, Bibi
PS thanks for the updates.
JSmith5780 said…
Sinead- we did the EPGP too. I was worried the project got cancelled because I didn't hear anything for so long. But we finally did the bloodwork last fall and got our checks recently. Austin LOVED that he got paid :) We let him buy a Wii game with his money.
Mrs. M said…
Hey you....love the new bloglook. Can you believe he's a little boy now and not a baby? It still blows my mind that 3 is on the horizon.
It's all a puzzle isn't it? And you're slowly being given pieces to put together. Genetic testing...we've gone that route for Bup's TSC and have most of the answers which is great for our extended family. The blood work isn't done in Canada though, and our Health Region won't fund it to have it done in the US right now due to budgetary constraints. So....we'll wait. Bup's not about to reproduce anytime soon so we can wait...and hopefully the future will bring more answers, better testing, treatment, etc.
I wish all of those things for your Trevy too.
M

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