6.08.2013

And I was just getting comfortable...

If you follow us on Facebook you know that something very unexpected came to light. Sophie's MRI which was considered a mere formality at this point, a crossing of the t's and a dotting of the i's so to speak, turned everything on its head.

Turns out Sophie's skull held a (big) secret. It is not the "same but different" brain the doctors were expecting to find, that they are accustomed to finding in the autistic cases. Sophie has a rare brain indeed, structurally different than most.

So far we only have the MRI report to guide us as we are waiting to meet with the geneticist. If any of you ever read an MRI report without a neurology degree you know what we face. The key words in the one and a half page of medical jargon seem to be bilateral perisylvian Polymicrogyria. There are lots of other words pertaining to ventricles and foci and trigones but they are softened with adjectives like "not abnormal", "minimally irregular" and "mild prominence". So other than the elephant in the room everything else appears more or less "ok".

So now what? Everything shifted on its axis just a bit, leaving us groping for answers yet again. Whereas autism as confounding and perplexing as it is, at least has a glossy "awareness campaign" behind it, this condition is vastly unknown. Even the formidable dr. Google was not at his usual over-achieving form. All he could supply were a few obscure medical journals, the above Wikipedia link oh, and the proverbial light at the end of the tunnel.

One blog. One! After sorting and sifting through literally hundreds of autism blogs, this pared-down selection was a drastic reminder that this is unchartered territory indeed. So in my overwhelmed "holy crap!" state I ransacked through the blog, ordered his book (yes, there is a book), emailed the author AND found him on Facebook. I'm sure there's a restraining order being written as we speak. I needed that though. I looked through pictures of his cuter-than-cute daughter (with a certain Sophie-like quality to her, I don't know...) and breathed a sigh of relief. She is ok, we will be ok.

I think for me it is not a drastic halt of our journey, just a detour. We've made our peace with Sophie's disability gradually over the past year. She might remain nonverbal and she is at a risk of developing seizures, but we made some peace with both those possibilities already too. She still has autism-like symptoms, just her brain anatomy provides a clearer picture as to the reason than in most autistic cases. I will continue documenting our journey. I hope that the friends we've made so far will stick with us, even as our paths might slightly diverge. Nothing like marching alone into the unknown.

Here's to our new journey...

She is still our Soapster. Unique, mysterious and totally awesome

 

10 comments:

  1. Let me join you on this detour. Our Ville also has polymicrogyria. I am sorry that the rug was pulled from the beneath of you. If you have questions, mail them to me and I will go through them in the morning. I don't know if I can answer any of them, but I'd like to hear them as well.

    ReplyDelete
    Replies
    1. Antti I sent you an email already several hours ago! I remembered you contacted me regarding Sophie's EEG results and I dug up the email and replied.
      Thanks again. It's good to have company.

      Delete
  2. I've been thinking about you non-stop since finding out about the polymicrogyria. I'm sure it was a bolt from the blue. I've read the book you ordered, and have been reading the author's blog and following him on Facebook for a while now, and I didn't realize quite how little else there was about there about it! But his daughter alone would be a lot of hope. And Sophie did talk at one point, which from what I can gather is not that common with polymicrogyria (I've got to learn to spell it so I don't have to check every time!) I for one of course, certainly, absolutely, will be with you all the way with this! Sophie is even more unique than you thought! And I'll say what I hate people to say to me, but I'll say it anyway---she is very lucky to have the family she does. And as I sometimes say back to people, you are lucky to have her too!

    ReplyDelete
    Replies
    1. That all means so much Suzanne. I am reading his book and did come across your comments in some of his blog archives. I know, I feel like a stalker :) his daughter is hopeful although Sophie does seem "more autistic" than she did. In videos I watched. Anyway we are still in preliminary stages and have more questions than answers. Thanks for your support, I so appreciate it.

      Delete
  3. Hi there. I stumbled across you on Facebook and wanted to lend a little support of my own. My daughter is a little older than your Sophie, and I wouldn't go so far as to say they are truly alike, but there are some similarities between the two girls that I can't help but to notice. At age 3, my daughter was minimally verbal (some inconsistent 1-word stuff) and was only just beginning to notice sounds around her (we had her hearing tested and it was normal). Little Miss (as I call her) was diagnosed with a brain abnormality (called PVL) -- so I totaly feel for you when it comes to the whole multiple dx-where theheck is this path leading thing.

    It's tough trekking through uncharted territory for your kid. The doctors order a zillion tests and you end up with a patch-work quilt of answers that you just have to sew together yourself. We did the genetics thing and did find a mutatuion that may or may not have caused Little Miss's problems - but the mutation was so rae no one could tell us anything for certain (just stuff like "30% of people with similar mutations have X symptom")

    I guess what I'm trying to say is that after all the testing, you may have little more knowledge than when you started. We decided that the best course for us was to eventually drop all the testing and put our efforts into therapies to help Little Miss. It's been a loooooong road, but with lots of love, therapy, and hard work, Little Miss will be partially integrated into a mainstream kindergarten this fall (she'll have 1:1 support).

    If you want to talk, you're more than welcome to contact me (I think blogger captures my email address). Like I said, we're not on exactly the same path, but maybe we can help each other with some of our shared experiences.

    ReplyDelete
    Replies
    1. Thank you I will read yor blog and take you up on that! Once I figure out what questions I have lol. Is all a blur now

      Delete
  4. Just stumbled here... love her already.

    ReplyDelete
  5. Oh crumbs, life is never simple is it? Thinking of you and Soaps. x

    ReplyDelete
    Replies
    1. Never simple but never boring. Thanks for your thoughts.

      Delete

Related Posts Plugin for WordPress, Blogger...