Calm Amongst the Chaos

Mama of 5 seeking calm in the chaos

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 of Rett’s girls think Lily has Rett’s. This mutation is linked with not only atypical Rett’s, but also infantile spasms and an early onset of seizures. Ding ding right? Plus looking at the characteristics of this mutation you’d say that is Lily. I was super excited when I found the information on this and called Lily’s neuro asking him to run this test. I am sure this is on Lily’s site, but I have no time to look for it. Well he basically said we aren’t looking for a diagnosis right now, we are trying to control seizures and we’ll look back into it later. I smiled and said ok, fine. I made an appointment with Lily’s personal, totally interested in my children, Pediatrician and showed him what I found and asked, ok maybe a little begging, if he would rx the script for this test and he said “sure.” Well after two months I was called with the report that there was no mutation on the CDKL5 and again we were at another dead end.
I hadn’t thought anything about this until I got an email asking if Lily had been tested for this just two weeks ago and that had me looking into her records and I found that test that said negative. I still thought though that Lily seems to have this disorder and I called the geneticist that we hadn’t seen in years to have her take another look at Lily and maybe run that test again, we can’t get in until Dec.16th. Then Friday of last week after work I got home and saw a message and it is from the girl’s pediatrician. He says he wants to talk to us about Lil and of course it is 5:30pm when I get that message. I had to sit on needles until 9am Monday to call and see what the heck he wanted. Lily hasn’t been in to see him in quite some time and I just couldn’t imagine what he wanted. So I call at 9am and 9:15am my phone rings. Wow this must be important! Dr. says remember when we ran that test two years ago checking CDKL5? I said “of course” he says “well the University of Chicago re-ran a test on Lily (with that old sample) and it came up positive, not for CDKL5, but for some unknown gene that has yet to be named.” I was in shock. A positive test result? A POSITIVE test result????? “So if it wasn’t positive for the CDKL5, what was it positive for? I don’t get it” and he explained to me that there isn’t a name yet, it is all very new and he described it to me in very simple language. He said imagine they were looking on Val Vista and Lindsey (two parallel road here in town) and they didn’t find anything, then later they went looking and found it on Gilbert rd (another parallel road next to the others in town). I’m still confused, but a positive result means a million things to me. It has been 6 years and 1 month we have been looking for answers, 6 years and 1 month of blood work, 3 spinal taps, 2 muscle biopsies, 1 skin biopsy, 3 different neuros, geneticists, developmental specialists, metabolic specialist and what?! A test I insisted on having ran by Lily’s regular Pediatrician is what is finally leading us to an answer?! Holy freaking crap! I can’t count the nights that I thought, was it Lily’s childbirth experience? Did I take too hot of baths while pregnant? Did I take antibiotics during a bad time? Was it my thyroid meds that caused this? I have thought of everything that I could have done to cause this to her and now I found out, it wasn’t anything I did. Can you imagine the relief that comes with that? I can’t explain it.
Granted they haven’t even named the gene yet, and Lily just so happens to be the first test to test positive, but we are on our way. We will know what this is and we will know fairly soon. We may have to be the pilgrims of this whole thing and that is ok. We can handle it!
But this isn’t without stress and well stress. Pediatrician told me on the phone that our next plan of action is to send them Lily’s blood again, they want to test DNA and RNA on her and they want to check Andrew and myself. Hence where the stress comes in, they want to see if Lily didn’t get this mutation from us. This stems off the X chromosome (?) (I am in way over my head here with all this, I barely could figure out what eye color our imaginary child would have in science with my blue eyed partner, by the way I am blue eyed as well) and so we need to see if first this is from us and if it isn’t from us then I guess they will see how this mutation came of in Lily. I think most of you are following me here. I am 6 months pregnant. I have to sit and wait to see if Andrew and I have any deformities that can cause this to happen to our children. We have been told by specialist by specialist the thought of something as rare as Lily happening again is next to none. And even though I have asked about genetic counseling time and time again we have been told with out Lily having a diagnosis they’d be going in blindly and have no idea what to test for. Fast forward. 6 years later. My blood and Andrew’s blood is on a first class flight to Chicago and we have to sit on nails while we wait for the results. I don’t even know how long tests like this should take. 2 weeks? 4? I know it took 2 months to hear back from the negative results we got 2 years ago. I don’t have 2 months. Well I do, but my heart doesn’t. And if Andrew and I do have some whatever I obviously know if doesn’t mean it will happen again for sure to our baby boy since Andi is as healthy as a horse, but then again if we do what are the odds of two healthy if we have something funky? Sigh.
The best case scenario is we have no mutations and it is all Lily, but then I feel bad that Lily has to be alone in this. I don’t want to wish that upon her, but I just don’t know how I would handle another seizing baby. Seriously.
I do know that God has his hands ALL over this. It is really hard to not believe in such a thing. I mean this is just all falling into place so amazingly. I just have to pray that the best outcome will happen and I ask the same from all of you. Lily is our special girl and we adore our special little one in a billion child, we just want her to be our only special blessing.
I may be a little consumed with this until we get an answer so who knows what I will write about in the meantime.
Prayers please! All the time! Thanks!

4 thoughts on “You better grab something to drink….

  1. Avery says:

    hi! I came across your blog through google alert. my daughter Avery has Rett syndrome. Good luck with all the testing. I will say a prayer for you and your family.Carrie

  2. Kelly says:

    Um… please keep me posted. And tell them if they want Jenelle’s blood we’ll send it! I am going to cut and paste this and send it right away to our UCLA genetics doctor! HOLY CRAP!Sending you tons of prayers. I know you would hate for Lily to be alone in this, but that may be the best result!Please, keep us posted!

  3. Lesley says:

    Well, that is very interesting. I can’t wait to see how your and your hubby’s bloodwork comes out…

  4. Teresa says:

    Just saw your wonderful blog. My Louise has CDKL5 but not the “typical” CDKL5. to make it easy she is high functioning CDKL5.I would love to hear more about the symptoms ie type of seizures, breath holding, feeding issues, I belong to a wonderful yahoo group – CDKL5 -please check us out. Goodluck on the testing as it took us 8yrs before something was found.Would be interested if the testing for CDKL5 showed no deletion in the exons but differential in the introns – you may want to ask genetics.Our best – Teresa & girls

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