Saturday, August 2, 2008

As Good As It Gets????

Sooooooo....I've been totally slacking with this blog. I can't believe it's been over a month since I've updated. There is so much to tell I don't even know where to start. This is going to be a long one.

Ironic as it is, Ava's been doing wonderfully since a few days before our consultation at Mass General. Go Figure. So, that's about 2 months or so. She's been averaging about 10-20 myoclonics per day, with maybe one or two causing a fall. She's been feeling good, and her speech is continuing to get better every day. Her physical therapist is highly impressed with the progress she's made, and she's almost "up to snuff" with her peers. Our speech is still quite behind.

She really is such a tool!!! Her new obsession is carrying around pocketbooks all day (and night) long. We've all learned to stop searching the house & car for our lost possessions....because their her purse(s)!

July consisted of : A 24hr EEG study, a complete eye examination, bloodwork for her Genetic Test (SCN1A mutation). lots and lots of meetings with CEDARR, vaccination talk, and lets not forget the phone calls......tons...and tons....of phone calls. We completed our process with the CEDARR program (to help us with Ava's transition out of Early Intervention, and also to get her some respite care, so I can safely leave her with someone that's not US!!). We set up an appointment for a Neuro Psych. evaluation. We had Dr. Neuro write letters, letters, and more letters about why Ava needs a nurse on staff at school whenever she will be there, (and also authorizing her astronomical dose of diastat - rectal Valium (about 3x her normal dose) to break a status epilepcitus episode.

This month, I've clocked in quite a bit of time with phone conversations with our Neuro. About the EEG.......about vaccinations......and most importantly, about.........Is this as good as it gets????

I've actually been feeling great about Ava. She's happy, feeling well physically, and coming along so nicely in every area......but she's still having up to 20 seizures a day with numerous other generalized spikes that we don't see. Dr. Neuro says her seizures are only 1/2 a second long...which wouldn't even add up to 20 seconds per day. But in my mind, a seizures, is a seizure, is a seizure. And none of them are good. Especially for Ava's little brain trying to process information.

The pedi opthomoligist noted a distinct eye droop on the left side. This is something I've insisted on for 2 years. I've brought it up to EVERY neuro we've ever seen......with just the poo poo response of......oh...let me write that down.

Well, write this downs boys....IT IS REAL! Dr. Neuro, upon a quick initial report of the study managed to "slip" and say he saw more on the left side (which may explain the left eye droop she's had for 2 years, and her favoring her right side slightly) but after a full review of the study, he still insists her seizures start equally from both sides and generalize. He's maintained they are coming from deep within the thalamus, although he did say some were originating in the occipital area. Still, the same end result I've heard from every neuro "GENERALIZED EPILEPSY". I'm more confused then ever, and am waiting for the written report to understand it better. Our phone conversation was so loooong and we were dealing with soooo many issues (vaccines in particular), that I'm not sure I ended the call fully understanding exactly what he was saying about the EEG.

Although I did understand one thing.......

Crystal Clear..........

It looks better.........

A LOT better...........

"We're heading in the right direction"............

After all the crying, fighting, stressing, and EVERY twist and turns we've been on with this diet......we're all pleased at how well she's doing despite the few seizures a day we're still seeing.

Although, I'd like to being seeing NONE.

The clobazam has helped her soo much and we're only at 15mg. per day.....(Dr. T says she could go up to as much as 40) and for right's enough. The only side effect we've seen is a bit of sleeplessness, but that's IT. Clobazam is on the list of one of my "good" AED's. Along with Keppra, which gave us 3 SF months around her 1st birthday.

I'm pushing for the 3T MRI. I just NEED it. It will close the door, and put my "left eye" suspicions to rest. Dr. Neuro said if the SCN1A test comes back negative.....he'll set it up. He even said he'll give me a BEAM study, yet he keeps insisting he feels her "answer" will turn up either genetic or some metabolic issue we'll never be able to solve. All 3 neuro's I've consulted have insisted a PET would not yield us any useful information for Ava. But I'm now at the phase that I just need to know, so I can move forward.

As weird as this sounds.......I've always been soooo grateful that, given her initial diagnosis of IS (Infantile Spasms), she is walking, somewhat talking, and happy for the most part.

I thank God every day for pouring his mercy upon our daughter. Most people might wake up in the morning angry, and bitter being dealt a "bad hand", but even as I'm making all her messy Keto meals (while we're still seeing seizures daily), and chasing her around for meds.....I'm very grateful for what we DO have, instead of dwelling on what we don't, or.....may never have. I've moved on from that place, and I hope I've finally come over the hump.

So somewhere in the middle of all this mayhem we managed to escape away with Madison and Christian (and 2 other friends) to Water Country for the day....thanks to Auntie Beth & Uncle Julio. Well I'll admit that it wasn't my first choice of an outing, but it still felt good....having a break from thinking!!!!


JSmith5780 said...

The EEG is better which is fabulous! I am only sorry that you have to fight so hard for all the other testing... 3T MRI, BEAM, PET. Good luck!

Monica, James, Connor McGuire said...

Thanks for visiting Connor's blog. Your little Ava is cute as a button. I'm with you in just wanting to know something. I just can't take "we don't know why this happened". Something caused it! I just don't know if we'll ever get our answers. I'm glad I've found another keto family. We were weaning b/c we didn't think it was helping but we realized it was. I'll take 20-40 spasms a day versus 90 anyday. Although it soes seem ridiculous when I'm spending 2 hours making meals. I'm thinking...for this much work I want NONE!! Selfish I know. It is a daily struggle but I agree that i am so thankful for what Connor can do. Please keep in touch! Big hugs from NC, Monica

About Ava

Ava Simone LaBonte was born December 1, 2005, a healthy baby. She was a happy, healthy, normal baby until six months old, when we noticed some odd movements, which we thought were exagerated startles. Ava had her first EEG at 6 months, and it was normal. Six weeks following the EEG, Ava began having head drops....and we knew this time, something would show up.

At 8 months old, Ava was diagnosed with Infantile Spasms, a rare form of epilepsy. She was treated immediately with a 4 week course of ACTH. Ava spent 6 weeks "seizure free". All of Ava's MRI's, CT's, and blood tests have been "normal".

On November 20, 2006, Ava had a grand mal seizure which could not be stopped, and she was put in a drug induced coma. We left the hospital on antiepileptic medication, and have been on medication ever since. Ava is currently diagnosed with Generalized Epilepsy.

So far we've tried the following medications: ACTH, Trileptal, Keppra, B-6, Depakote, Carnitor, and currently on the Ketogenic Diet.