Wow, it's been 3 months sence my last post!

Boy, a lot has been going on over the last few months. There has been so many Doctors appointments but mostly because of odd issues not because Kiera has been ill, thank God!

She did however go through a 7 day illness, vomiting, temps, O2 dropping, but we managed to stay out of the hospital and I have to say I was amazed!

Her seizure activity has been up and down again, mostly up.
We did take her completely off one of her seizure medications, Topamax. She did do well while coming off it, we did expect increased seizure activity while titrating off.
But during the taper, Kiera did start to show more edema, so far she has gained 12 LBS since January, and she is still on the keto diet so her weight should be more stable than this.

During all of this, we lost her epileptologist, that was such a headache trying to find a new one. I was questioned why we thought that Kiera needed a epileptologist rather than a general neurologist, and was told they are really the same... so being who I am, I googled it and did find that there is a difference. Kiera's biggest neurological concern, for us is her epilepsy (of course there are many issues in this area, but the epilepsy is something that we can DO something about, hopefully)
So, anyway we were kind of on our own for a few months as we were titrating off the Topamax which was a very unsettling feeling.

As the edema and the increased seizure activity continued, we became more concerned. Kiera was on a roll with receiving rescue medications on a daily baces again so we had to do something.
I called the clinic where our epileptologist used to work and talked about my concerns (two years ago we were kind of at this same point with seizures and rescue medication, and Kiera ended up in the hospital, on a vent for 14 days and continued to stay there for up to 63 days, I just did not want to get anywhere close to that again) so they directed me to a peds epileptologist in the mean time.

This Doctor is great, right away she said that the edema is most likely caused by another seizure medication that Kiera is on, Lyrica.
I was talking about this for awhile, but none of Kiera's Doctors really looked into it.
So now we have been decreasing the Lyrica some, but there has not been any change in the edema. I then put a call into the dietician to try to adjust Kiera's diet and at this point the dietitian wants us to try other avenues before we play around with her diet. We did just change it because Kiera had a blood draw that showed low protein levels, and as a result we increased her protein in her diet but by doing this it increased her seizure activity, so we backed off the protein.
So we are going to try to decrease the Lyrica again.

I also had to get Kiera's AFO's adjusted too so she can get back up in her stander. She has not been able to stand since January. However, she can not stand without her TLSO (body brace) so that too will have to be adjusted or remade, but if we can get her weight down then we will have to redo all of the bracing, what a pain!

Currently Kiera's seizures are down again even though we are messing with the seizure medication, so it makes you wonder what the meds were doing for her anyway.

We had our first appointment with our geneticist since Kiera was diagnosed last May, it felt weired just because her job is done, she says that she does not need to see Kiera any more often than one time per year...just kind of bitter sweet.
She did ask me to gather information from all the parents that I know that have a child with cdkl5 deletions, she said the only way to gather needed information that would lead to more children diagnosed and sooner, is by talking with more families that are affected by this disorder, Doctors just don't have that kind of access.

Some exciting news we have is that the Doctor at Baylor College of Medicine that found Kiera's deletion has written a paper about Kiera and cdkl5. Kiera's deletion is very unusual because it is not a mis-coding, but a large deletion (missing chunk) and also involves the gene itself.
The paper is due to come out shortly!