8.24.2013

Questions, revisited

As I mentioned on Facebook recently, I've been running into people lately that I haven't seen in years. It is not surprising, it being summer and there are only so many family places where people take their small kids in the neighbourhood. Many of the people I met knew me back when I only had two kids (eons ago, it seems) and of course you can't get far past "oh my and who is this?!" before I start telling Sophie's whole life story yet again (many, many times it happened. To the point I was thinking "man I should just carry bio cards to give out").

Of course her story, which has woven itself into the tapestry of our life and become a part of our "normal" is fascinating to someone hearing it for the first time. The homebirth followed by a most unusual baby with hair evenly split in the middle into right side dark and the other white, the talking at 9 months (in two languages!), the fine-motor precision and ability to draw intricate symbols at 14 months, the serene demeanour, followed by the horrific illness and subsequent regression, the diagnosis of autism, then progress again, then the MRI which changed everything once again... Yes I guess it sounds like a made-for-tv movie to someone who isn't living it daily. As I watched people's mouths and eyes widen in surprise it injected a new sense of wonder into Sophie's condition. Which is good, I guess I was getting a bit burned out.

I spent a bit more time on the PMG awareness site, and revisited with some contacts. I added my name to their registry. I also started reading, researching again. What could have made her regress so drastically? And if in fact it was a hemorrhage, why would she have one? Research pointed to metabolic disorders (vaguely, after serious digging), and it made me remember certain things that nobody could answer when she was a baby. Here is a list for my own reference and on the off-chance someone has any ideas.

  • Big head
  • Low-muscle tone
  • Sweaty baby, and also an "odd" odour, a kind of sweet, fruity taste which unnerved me but nobody could specifically define it
  • Odd pigmentation
  • Digestive issues which went away after introduction of GF/CF diet (as did the sweat and odd smell)
  • Keratosis pilaris or "chicken skin"
  • Regression

She had blood work done at the time of her diagnosis and was tested for common metabolic disorders. I suspect that either what she has is very rare and not commonly tested for (or there is no test for it) or that she has some rare chromosomal mutation which might not even be known or tested. Now that we know that she has PMG I'm hoping that perhaps they could use that to cross-reference with the other symptoms. Of course "they" being specialists which we were referred to but still haven't heard from and who knows when we will.

Curiouser and curiouser. But we'll figure it out

I am currently reading this book. It is very interesting, and fitting with my current reflections.

 

2 comments:

  1. It sounds to me like it's a very good theory that there is something metabolic and genetic that ties everything together. I think in the next few years, technology is going to lead to huge leaps in availability and quality of genetic testing. I hope so! The sweet taste especially sounds very much like something metabolic. I hadn't quite realized before how very much Sophie regressed---I didn't realize she was talking that well that early. That does make the whole PMG diagnosis more mysterious, as I know from reading about that that usually children with it never talk at all. Sophie is a one of a kind girl! And a beautiful, very interesting girl!

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    1. Thank you she is :) I think the reason I keep asking all these questions is because I do have a fear of another regression. Especially since we don't know what caused the first one- how can we prevent something which we don't know what causes it? The fact that doctors are at a loss is not very reassuring either. So in a way, any progress she makes prompts a flood of conflicting emotions- pride and happiness, shadowed by cold fear.

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