Calm Amongst the Chaos

Mama of 5 seeking calm in the chaos

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 mutation on her CDKL5, we don’t know the name of the deletion or what Axon (or whatever it is) and I am praying it will be on her report when that gets sent, which Ped says he will forward on to me, but Andrew nor I are a carrier of whatever this thing is! We had no mutations and so the chances of any more kids like Lily would be next to none. Of course there is no guarantee of anything, but hearing that we aren’t carriers took the weight of the world off my shoulders. I have been so antsy these past few weeks. My attitude hasn’t been awesome and I have been very snapy. I think carrying all the weight of “what if’s” was really weighing me down. I feel so relieved. I do hope that the report will have more info on Lily. I would like to have a pinpoint on all this. A name. We are very close. We do now know for sure Lily has some sort of mutation on her CDKL5 and from there I am hoping to learn more. I am wondering if she will get the dx of Atypical Rett. I guess some more wait and see, but we waited 6 years right, I can be patient? Ha!
So I just wanted to share that. With this news I have opted to try a VBAC and my OB is totally on board. I have read just about everything I could get my hands on and I think the benefits out weigh the risks. I will not be able to be induced so I am praying to go into labor naturally (something I have never experienced before) and will have to wait some time for the epidural so to not slow down the labor process and try to eliminate the need of pitocin. The only reason I had an elected c-section with Andi was I was scared to death that a birth injury caused Lily’s issues and I would not risk my child again. But I KNOW that was not the problem with Lily and I hated the whole process and the cold feeling of it all and of course the recovery. Yuck.
I still have 12 weeks left and I plan on reading more and finding out more and possibly taking another birthing class… it has been over 6 years! I want to have this baby naturally and I pray I get that chance!
Thanks for all your concern and prayers. I will continue to update when I get that report!

2 thoughts on “UPDATE!!!

  1. Brooklyn says:

    What a relief to know you are not carriers, hopefully you can relax and fully enjoy the rest of your pregnancy! I will be praying for you!

  2. Lesley says:

    What good news! It’s wonderful to know what’s really going on with Miss Lily.My first child was a caeserean and the second two were VBACs. All went well. Yours will be fine too 🙂

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

%d bloggers like this: