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"
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.