And I was really happy.
And then I got the call from Tessie's geneticist not an hour later that, after four months of waiting, her test results were back early (it can take up to six months for the tests she was having done to come back).
It quickly became clear that this conversation was going to be different than any of the other conversations that I'd ever had with any of Tessie and Maggie's other geneticists and that this time they had found something. Several somethings.
He told me about the two biggest somethings on the phone call.
And then I hung up and called Paul and resolved the debate that we have joked about for the past two years of who has the odd gene causing all this chaos.
Both of us. We both have the same autosomal recessive gene, on a gene called MYO1H that effects myosin production, which happens to effect... ventilation, among other things. My mutation exists in .04% of the population and his exists in .2% of the population and I guess the chance that we would meet and get married and have kids that stop breathing in there sleep is nearly outside the realm of the possible.
And yet here we are. But really there's a lot more to it than that.
I still had about fifty things to do and so I got through the rest of the day and then sat down and turned on my camera and started talking.
I didn't put on even lip gloss, or even really think about what I was going to say beforehand (I figured it would come).
So this explains everything that I know at this point in time.
Here's hoping this will mean a monitor for life!! Although we all want to be the crazy, anxious parent that sees issues where there are none, as a fellow special needs mom, I know the bittersweet feeling of *finally* having a diagnosis. I have no wisdom to offer, just a big hug from Spain.
ReplyDeleteCheers,
Lucía
I am so excited that you finally have answers ! So it really is CCHS but with a different gene mutation. How interesting. If you have any additional information (medical articles, etc), would you pass them along to me through email ? I'm hoping your story can point us in the right direction. Thank you so much.
ReplyDeleteI was just thinking about you and that I NEED to email you! We don't quite know anything for sure just yet (this is like a maybe gene because so few people have it that's more like a theory it sounds like) but I will email you tonight and send you everything we know once I get the kids to bed.
Delete