Calm Amongst the Chaos

Mama of 5 seeking calm in the chaos

We saw a different neuro last week. I met Dr. N when I went into TGen and had a meeting in a conference room with a table longer than my house. I met 4 researchers who were interested in CDKL5. I don’t know how we are moving forward, but I was thrilled to speak with these guys and just let them know about CDKL5 and know that it could be something they want to look more into. I met Dr. N and learned that he has been researching Rett Syndrome for 20 years! He sees lots of Rett patients here in AZ and I thought, Lily needs to go to him. She needs to see a Rett Dr. considering no one seems to have much of a clue about Lily and CDKL5 here in AZ, at least a Rett Dr might have more of a clue about CDKL5. So we see him. He was kind, interested in Lily, let us know of some research in the works, did some blood work (that I was thrilled to have done, an x-inactivation test, I will follow up on that when we get results back) and then he told me we must stay with our neuro as she is the best with epilepsy, but he would still love to occasionally see Lily and learn all he can about CDKL5 and let us know of any trials, or research he feels may be of an interest for us. I had a little more faith in the appointment that it could help change our now, but I am comfortable knowing that he may be able to change our tomorrow. I like people to meet Lily and then when they read a report, or think of ways to research they will think of her blue eyes and gap tooth smile and think let’s do this for Lily.
I am disappointed in her seizures. What’s new? I am disappointed her being on 4 meds and still having up to 4 tonic clonics a day. I wanted him to say let’s do this and this and waala things would be different. But is it ok, we can’t always get what we want. Mick Jagger told us that. I do trust God and I am glad we went to that appointment. I will also go back to our neuro and see if we can’t change things again. Something. Never stopping.
I am however excited about an upcoming road trip with my girls in July! Lily has an appointment at our one and only CDKL5 Center of Excellence Clinic in Denver (for now our only!)! It is a partner with the Rett Clinic and there we will see every Doctor you can think of that does/can/will relate to CDKL5. It will be a long clinic and even a longer drive, but that might tell you how much flying with Lily is not happening. We will be flying in June for her Make A Wish and I think that is the most we can do for a summer. So it is my girls, me, lots of music, lots of fun stops, especially in Albuquerque to see one of my oldest dear friends…. she is not old, I just mean we have been friends since the 1st grade. Which was a really long time ago, so yeah she is old too I guess 😉
But we will see Uncle J and Aunt A, cousins J and M and we will enjoy some beautiful weather that is not Arizona in July. I may be nuts, but I am so relieved knowing we are driving and not flying.
We are also hoping to plan a CDKL5 get together with the other families who will be at clinic and those who live in Colorado! I can’t tell you enough how excited I am for this trip!
I know this wasn’t too thrilling of an update, but I just wanted to share what is going on right now.
We are praying for Boston and sad for these acts of incredible cowardliness. We were so happy to cheer on Team Rett who worked so hard to go to Boston and run for their kids and to have this senseless act happen….ugh.. I pray for the families whose lives are forever changed and pray that they will overcome with strength and courage.

5 thoughts on “Update

  1. Reagan Leigh says:

    Just checking in on Lily. Wow…I will definitely keep her in my prayers tonight! Poor baby!!

  2. Tiffany says:

    Poor Lil. I hope she gets feeling better and gets to rest tonight. I hate when these kiddos get sick because they don’t understand. You just want to be sick for them. Give her a hug for me!

  3. Reagan Leigh says:

    FYI…I was told that one of the side effects of Clobazam is that it can increase myoclonics. I think it's rare and it only affects certain people that are prone to that side effect but Reagan has responded that way in the past to similar drugs. So far so good with Clobazam, but who knows. I'm always leery about meds that have this side effect.

  4. Kim says:

    I had no idea about that! thanks for the info. i am about ready to just ditch that one and see about some of the new ones out there. we go to see the neuro on the 13th we will discuss this further for sure!thanks for the info, good to know esp since dh wants me to put her back on topamax and i am certain that is not why she is having those

  5. Reagan Leigh says:

    It's so hard. You always question every little change you make. It's all such a guessing game. That's what makes it so hard to trust your doctor, because he's just guessing too!

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