Calm Amongst the Chaos

Mama of 5 seeking calm in the chaos

I still have not gotten the report from U of Chicago. I want to be able to put Lily’s exact diagnosis on this blog so others can do searches on it, but I don’t want to until I have the exact words.
The exact mutation/deletion.
We went to our geneticists appointment yesterday, well Lily’s apt. and I was bummed to have gone empty handed. Of everyone, I mostly wanted her to be able to read the report. She said she would have suggested testing Lily for CDKL5 if I hadn’t already said she had the diagnosis. She also said it is not a Rett Syndrome dx, just similar to and could be called Atypical Rett. I guess it is just easier to say rare gene mutation to strangers who ask.
Geneticists wants us to take her to see a GI since reflux is so common in these kids. I said she doesn’t have it and she said, she might without us knowing. But then we think about all the times Lily cries out for what we think is no reason and think, OMG maybe she is having reflux.
We talked about her getting an EKG, I said she had several during the neuro study, but like most Dr.’s she wants to have one ran herself. She wants to rule out any arrhythmia’s.
I really like this Dr. and can’t believe how long it had been since we saw her. I just got so discouraged with not finding answers, I took a long break. She understood and if I don’t say so myself, she seemed impressed with my knowledge. She also said she thinks I am doing so well keeping up she doesn’t know if she could do as well. I said yeah but I don’t quite know how to read the medical journals I stumble across, so I think my willingness to learn teamed with her knowledge, we will know everything there is to know. 🙂
She was also annoyed with why our Neuro wouldn’t run the test and when I defended him to say his speciality is epilepsy she said he needs to know a dx b/c there is a lot to different disorders and what AED’s work better for each situation etc. Anyway she was mad. I was smug.

On another note, I was totally annoyed last week when Lily and I had a meeting with her new case manager. She had me over look papers and sign. One paper said “child receives all nutrition via g-tube.” I said “this isn’t right.” She said “When did that stop?” I said, “I guess when they cut the cord”. Sigh. Nice to know how well we are looked after. Having Lily eat by mouth is a huge achievement for a child with her disabilities and I am very disappointed in the lack of interest they have in her. I get it, they are busy and under paid, but that is a huge thing to have wrong.

Tomorrow morning we have breakfast at Lily’s school at 7:40am with the principal, because Lily is the “most improved” child in her class! Go Lily!

5 thoughts on “Updates

  1. Kim,I really hope everything works out for you with Lily and her drug changes. I so hope you can get Lily back to being stable again so that you can al relax a bit more.Loved the video of Andi, I’m delighted to hear you have a special day together each week, that is so very important.How is your preganacy going, well I hope. Feel free if you have the time to write to me at my e-mail address ( I would imagine you have access to it?)Take CareLots of Love Carolynn xxx 🙂

  2. Hopefully Lily will start doing better with the seizure activity. The video was too cute! I have twins, one is special needs, and I haven’t ever thought about having just a special day for the two of sounds like a wonderful idea, I’m going to give it a try!

  3. I saw a link to your blog on the thing I have on my blog that tracks who’s been there. I have checked out your blog a couple times…I think we both know Angie Hodges maybe??? (not sure) ANYHOW! I just wanted to say hi and tell you what you already know…that Lily is such a beautiful little girl! I can see how much love you have for her and wanting to understand her condition and by doing so be able to help others. I think that is awesome. Hope things are going well for you today and that you and your family are enjoying the Christmas season!

  4. Hopefully you will get your answers very soon. The not knowing is the killer to us parents! As far as the g-tube, everyone assumes Emily is tube fed and it makes me mad that just because she has multiple problems they just think without asking. Yes, she is still eating baby food, but she is eating by spoon and we are proud of that accomplishment.

  5. catsmum says:

    Just want you to know I am reading your blog.I feel as though I have a special bond with you and Lily. Do you have a followers list? I can’t find it for the life of me.As for caseworkers….mine is a basket case.Leita xxx

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