A common theme I've felt...
and heard from others...
since our entrance into the crazy world that is Infantile Spasms...
is why?
Not necessarily why me? Why my family? But why...or maybe more accurately what? What is causing this insanity? What is it exactly that's broken inside my beautiful...innocent...pure-hearted...son? Put a face to the Monster.
It dawned on me rather quickly into his diagnosis (with the help of this post) that the seizures were not the cause.
The seizures are the symptom of a cause. A cause. A...as in one of many many many...possible causes.
Ever since that sunk in...I have been on a quest to know why. Or what. I suppose I could make it sound all important and selfless by saying that knowing what helps with knowing how - to treat. And I do believe that. But my unquenchable thirst for knowing what is being driven by something deeper. Maybe it's a mommy thing. Wanting to deeply understand and know each of my children. I don't really have the time to analyze my motivations for everything I've said...or done...or pursued...over the course of these past two years. I'm open to qualified individuals doing so. So long as there is a happy pill prescription included!
::wink::
Oh and has this quest ever taken us everywhere! Only the land us right back at square one again!
At one point we were told that Trevor has mild Cerebral Palsy. His 3T MRI is in agreement. Revealing bilateral PVL. Which Dr. Neuro has speculated may have been caused by a prenatal stroke. We'll probably never know the cause of the PVL. Somehow I'm okay with that.
But the cause of the spasms?
We've had extensive genetic work ups. Which sent us sailing on an entirely different sort of roller coaster when Trevy's ARX gene revealed a mild mutation. His mutation or change was the first of that specific kind to be found. Which prompted Baylor Laboratories to sample Toby's genes pro-bono. Everyone...including Dr. Genes...was shocked when Toby's sample revealed the same change. We were told it was likely benign. But "just to be safe"...we should have Bristel tested. To make sure she's not a carrier. You know...for when she starts making family plans.
We've turned over every rock. Looked into every crevice.
Removed half of his brain. So that the tissue could be sliced and diced and studied.
And we could finally have our answer.
Which arrived wrapped in a big manila envelope the other day. An envelope I tore open. Only to be disappointed because I couldn't digest the information contained inside. My lack of understanding led to emails sent out to both Dr. Neuro and Dr. Rockstar.
Dr. Neuro emailed that she would be calling me to discuss the heterotopia in the pathology report. Which after reading sent me immediately to google. I had no clue what heterotopia meant. But it sounded important. Thank God for google. It was there where I found a synonym term with which I am much more familiar. One of the many many many possible causes. An answer. Trevy's answer...
Malformation of Corital Development.
8 comments:
Answers are a good thing. Even if you dont like the answer, its still a good thing to have. I am on the same quest for answers. For whatever reason... I wanna know!!
Thinking about you guys
is it weird or even comforting that i started to cry when i read this.
wow, you've got your answer....how does it feel or is it too soon to completely feel it yet? i mean after all this time...wondering, waiting and (re)searching, and now you have it.
i'm so happy that you can maybe have some peace and even a sense of closure now. but then again, can we ever really heal from something so huge, so life changing? maybe in due time, but not close enough that i can even see it or feel it.
love and hugs :)
jody
That's my answer too. But why? What caused cortical dysplasia? No one knows. They think it happens between 20 and 26 weeks gestation. How? Not sure. I can list off the things that happened during those weeks. Does anyone want to know? No.
For the doctors, I think just calling it CD is enough. Can I tell you how many times I have pointed out that we were in a serious car accident while I was pregnant. No one cares. How can we say it didn't cause Austin's lesion? They say we can't know it didn't but again, they don't care.
I guess take it as confirmation that surgery was the best option for Trevy.
I agree with the last sentence of JSmith's comment.
You know more than most now. But if either of the two docs give more, hoping you share.
Despite the intensive genetic studies you did, both categories of source remain - DNA or a trigger-event in utero.
I suspect physicians give as much as they can, to the point of ignoring a parent's repeated reports of possible trigger-events (Sinead). Not being able to validate either, the docs move on.
How much more will you search, trevor's mommy?
Barbara
Barbara...it's true. Trevy was a blue baby at birth...cord wrapped around his neck...didn't breath immediately although not extended to the point of intervention. Just to the point of the nurse saying "come on baby, breath!" Maconium in the fluids suggesting intrautero stress. I've always thought it must mean something. And bring it up often. Dr. Neuro has always thought Cortical Dysplasia. She was right about that. I...however...could still be right siting the PVL as my evidence! :)
Anyway...
I feel good with knowing this much. But I'm still going to get involved with the Infantile Spasms Registry which is a genetics focused study. I can't ignore the ARX change...because it is so unknown and un-understood. New word alert! I don't think much will change things for Trevor at this point. Although it does help me think forward...having a more formal understanding of what he has. And hopefully by being involved and continuing to explore the causes of IS...maybe our family will help provide information that will help another family down the road.
If any of that makes any sense at all. I switched my afternoon coffee for cocoa. I don't think it's helping!
...danielle
Sophie's path report gave us absolutely no answers. Though, Dr. Chugani believes her IS was caused by some sort of brain malformation that would possibly be revealed if they did further testing on the sample.
Answers...Answers...All I have ever wanted, too....
We started out from a year old with "undiagnosed"..."developmentaldelay"..."hypotonic"...
As Colby has aged, the seizures began, then even THEY took on an additional form, then the heart became worse...
Sending his profile out in genetics journals all over the world was no help...
We haven't seen geneticists is quite a while...May be time again....New technology & all....
People really do look at you like you are a fool when you can't NAME your child's problem....Like "Why don't you take him to a specialist?"
I'm so thankful you have SOME answers...But I think we always will have questions, no matter WHAT we find out....
I think that's what makes us good mothers, too...
Cyndi
Post a Comment