So here I sit on Lily’s hospital bed while she sits in her wheelchair. We like to switch it up, you know keeping it exciting. It is 8:30am and we are on hour 48. I’ve enjoyed about 4 rounds of Family Feud, 8 rounds of Solitaire, 4 rounds of Scrabble, kept up with status updates …
Monday my mom and I took all three kids to Lily’s geneticist appointment at the hospital in downtown Phoenix, the appointment was at 8:45am. We amazingly made it there within minutes of the appointment, yet didn’t see the Dr. for over an hour and because she is so thorough she sat with us for well …
I just wanted to give a quick Lily update since she is the reason for this site. Hence the name. 🙂Lily is doing pretty good. She is back to having her 4 o’clock meltdowns that we haven’t seen for a few months. It is like a cycle, she gets upset and has more myoclonic jerks …
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 …
A week shy of 6 months, finally I hold in my hands the diagnosis report from the U of Chicago Genetic Services Laboratory.Here is her result: Deletion involving exon 1 in the CDKL5 gene.So my gut was right from the start. I KNEW my daughter had a variant of Rett Syndrome. It is a hard …
So I got a call this morning from Lily’s pediatrician saying that he emailed the research Dr. since it had been 3 weeks and she said she had the results and will send him a report in a week or so. But he read me her findings and they said that Lily had a spontaneous …
Still sitting here on pins and needles. I’d say God is trying to teach me patience, but I think waiting 6 years for a dx is pretty much a test in patience in itself. I guess on the scale of things 6 years vs. 3 weeks I really shouldn’t complain, but I am going batty …
So last week I emailed the labs at University of Chicago and a sweet girl there said she will do her best to keep me informed. I just got an email from her that said this: “We have found something in the CDKL5 gene in your daughter that may possibly be the cause of her …
Wow! I got a life changing phone call yesterday.Let me start from the top.About 2 ½ years ago I found out about a test that tests the gene CDKL5 which if that has a mutation it is linked to atypical Rett’s syndrome. We have thought Lily has atypical Rett’s for a long time now. Mother …
Calm Amongst the Chaos 