Calm Amongst the Chaos

Mama of 5 seeking calm in the chaos

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 problems. We are still conducting studies on you and your husband. When those are complete, in the next 1-2 weeks, we will issue a new report to your physician. I’m sorry for the delay, but we should have some news for you soon”

So that is where we are at. I guess Lily’s issues are within the CDKL5 gene and we just don’t know what they found. Looks like we have another week or two to hear about Andrew and myself. Just goes to show, it never hurts to ask.

Continued prayers would be appreciated as we wait for these results.

7 thoughts on “Small Update

  1. Kelly says:

    Keeping you in our thoughts and prayers! If she was at her best in Spring, then go back to that RX routine! No one realizes we get our own pharmacology degree when dealing with nasty seizures! Good luck!

  2. Brooklyn says:

    Kim,I am new to your blog, I am a mommy to a sweet Rett Syndrome gal, her name is Brooklyn. I have been reading your site, getting “caught up” wow….it is all so over – whelming isn’t it? You and LilyAnna are in my thoughts and prayers. Hang in there girl – you are one amazing momma! If you want to check out my sweet little “Brookie Bean” her blog is or at

  3. Caitlyn says:

    This is all very exciting for you guys, I’m sure! I do know what you mean about having a name! And how exciting to be part of a ground breaking find! I wonder if this gene may give answers to families with a clinical Rett Syndrome diagnosis, but a negative MECP2 mutation. Hope for all, I’m sure.

  4. Kay says:

    Hi, I am also new to your blog. I am mom to a cdkl5 girl, Jade, and my google alert showed me to your site. I was wondering, did they test LilyAnna for the foxg1 Rett mutation? And yes, putting a name to a disorder is more important than doctors think. They fail to think about how we find comfort and support in others who are going through the same thing. I hope you receive the test results in a relatively short amount of time and that you find the answers you have been waiting for. I know it helped me a lot. LilyAnna is incredible! You can visit Jade at if you are interested 🙂

  5. Kay says:

    Wow Kim! Nothing like this to leave your head spinning. I hope the wait isn’t too agonizing. Welcome back to Yahoo CDKL5…Kay

  6. Reagan Leigh says:

    They ran multiple Rett tests on Reagan because she does fit many of the symptoms…but nothing came back positive. Isn’t it interesting (or frustrating) that you’re just now finding out more about tests that were done years ago?!?! I’m definitely curious to see what they find out!

  7. Shannon says:

    you all are definitely in my prayers.xoxop.s. i nominated you for a fun lil’ blog award.

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