I had to take Reading up until the 8th grade. Not because I couldn't read, it was because my comprehension of what I was reading was less than to be desired.
I have been going over and over this paper, trying to understand it and the more I read it the more sense it makes. Well as much as a gal who completed HS and one year of community college can grasp ;)
My friend asked if the dr was going to download the report on my ipod. Now that is someone who knows me. I don't read. I listen. So sue me.
This is my comprehension of why this deletion affects Lily so much.
"A deletion involving regulatory sequence of the CDKL5 gene is likely to affect the amount of mRNA produced and in turn the amount of CDKL5 protein"
So our CDKL5 gene provides a protein and your brain requires this protein to be at full function.
"RNA analysis was performed to determine the amount of CDKL5 mRNA produced in thie patient and was found to be decreased by 50%. This deletion therefore appears to result in the decreased expression of the CDKL5 gene in this patient."
So that makes sense. Not that I entirely understand the CDKL5 gene, but knowing that she is missing one little thing in it and that makes the gene work half ass and causes so. many. issues.
It sounds like we just need to find the ingredients of this protein, throw it in a shake and wala.
Ahhh why can't it be that easy.
It does put a fire under your butt though. I mean I cared when I got the verbal dx over the phone, but didn't understand any of this. Now that I am reading and reading and reading this I see that my daughter is missing something so tiny in her system yet she appears to have been affected more severely than a child who has had half their brain removed. It makes no sense to me and I am really fired up about this. There has to be something that would make this work correctly. I hope/wish/pray it is something we can find enough funding for so it can be done.
I just had to post again on this issue. I had no idea what I was reading yesterday and posted obviously with no knowledge. Now it is 6am and I am feeling a little more knowledgeable about this. And annoyed with this as well.
Lily was granted a Make A Wish some time last year. I can't tell you what we had for dinner last night so don't judge. I recently th...
I'm waiting for the fog to lift. Or maybe I am waiting for my stomach to settle. I am wondering if I will wait the rest of my life for t...
I find it hard to believe I am on Post 4 and just 3 days into the whole ordeal. And honestly not finding much energy to do this and I guess ...
So somehow it's been a year since I wrote this Andi Stuck in the Middle post. One year. Like 365 days. Actually since it is April 1s...
Today is the one year anniversary of the scariest day/weeks of our lives. On this day, April 7th, last year Lily had her spinal fusion surge...