For this child I prayed.

For this child I prayed.

Friday, 14 October 2016

Mito-what?

After a recent appointment with Biochemical Diseases and Genetics I've been sitting with a heavy heart. Probably partially heavier because Aaron was away and I wasn't able to vent fully over the phone. The latest route they are wanting to go down for diagnosis is a possible mitochondrial disease. I wrote last about this mitochondrial cocktail that was prescribed. I had a lot of questions so we booked this appointment to get some of them answered.
Honestly, it felt a bit like a science class. There was even diagrams drawn. They explained to me cells and DNA genes and the first 25,000 that they looked through and found no notable abnormal genes. Then they moved outside the nucleus to the mitochondria. Mitochondria are responsible for the energy we need for every organ in our body. I guess there was something noted that at first they didn't believe could explain Layla but now they are second guessing. This mitochondria is passed on solely from the mother and not the father.
That in itself is a hard pill to swallow. Ugh.. now it's not both of us, it's just me.
The sad stat with mitochondrial Diseases is that they are passed down to children 100% of the time. Whether or not they show symptoms and the severity is another thing.
So now they're in the process of applying to get more funding to test blood work of Layla and myself.  If she has more abnormal mitochondria than me, that could explain why Layla is the way she is. If she has less than it would not be the explanation and we'll be back to the drawing board. By we I mean they.
The downside to the cocktail is that because it is high dose vitamins, and our lovely government will not fund any natural prescriptions, only unnatural ones, we have to pay out of pocket. Obviously if it'll help we will figure out the funds. But if it doesn't help we don't want to spend the money for nothing. So for now, we're going to order the perscription, trial it for 6 months and see what difference it makes.
Sometimes I have these out of body type experiences when I'm sitting with these specialist and talking about the medical side of things and just shake my head. I never thought in a million years I would know the things I know without signing up for med school. It's overwhelming at times to try and separate motherhood with medical motherhood. Reminding doctors that we're talking about my daughter here, not a lab rat. But while wanting to try anything and everything we can to keep Layla happy and healthy. I am forever changed.


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