Friday, June 20, 2008

The Cancellation List

Soooo...we've been on "the cancellation list" for a consulation with Dr. Thiele and the nutritionist at the at Massachusetts General Hospital. We are approaching month 6 on the Ketogenic Diet, and our seizure control has slipped out of our hands,.

Before totally giving up on all the diet did for us, we just didn't feel right about taking Ava off it until we had a second set of eyes look at her to see if any changes could be made to help us regain the control we saw in the beginning. It appeared, last week, that "the cancellation list" really translates to the "never going to call you...ever...list"! We were NOT expecting anything to come of our MassGeneral hopes, and we were patiently waiting for our July 29th appointment with Dr. Bergin at Boston Children's Hospital.

Surprisingly we got a call 4:59 Friday afternoon to see if we could make it in Monday. Of course, we jumped at the opportunity. Both Matt and I really liked Dr. Thiele, and their super cool waiting room & blood lab in the next room! We talked a lot about meds, not giving up on the diet, and....the VNS.....gulp.

I had been pondering the possibility of the VNS for a few weeks now. My thoughts were.....why waste a year or longer on drug trials that most likely won't work and dope her up and hamper her ability to think and learn. All though both neuros understand our thinking.....they (our local one and Dr. T) both feel it wouldn't provide the control we are looking for, and think with some adjustments to the diet and playing with the meds, we can be in a better place.

I'm willing to give it a try. I'm still waiting for the nutritionist to give me her recommendations, and see how I can make it work. We're raising her Clobazam a bit, which I'm not too keen on (as it makes her VERY hyper). So that puts us at 20mg per seems like a lot. But it IS helping.

I also found out yesterday that we FINALLY got our insurance approval to get our SCN1A genetic testing. What a long wait! We waited almost 4 weeks for our insurance company to decide whether or not it would be "worth it" for her to get the test done. It really blows me away sometimes. Ava has been suffering having seizures for over 2 years, with no cause determined, what is there to decide on???

So, since it's been so long since I've posted I'll fill everyone in on some family news (yes...there are actually other people in our family other than AVA *LOL*) Christian finished his baseball season with a great last game, and not after puking a few times afterwards because of the heat **that's my boy**! Both kids had end of the year performances at their school, and we are sooo proud of how well both of them did this year in school (despite all our drama around here sometimes).

They found an injured bird in the yard yesterday, and drove me nuts for hours. So, yes, I'll admit that I did put a make shift splint on it's leg (hoping it would fly, fly, away so my 3 kids would STOP touching it) to no avail. So after lots of tears, our neighbor made a little house for it to spend it's last hours in.

Is it wrong that I'm laughing about this right now????

Anyway, the following morning Ava cried for approximately 1 full hour because she wanted to hold the bird (who was out on the deck in the "penthouse suite). After seeing the look on my face, Madison & Christian had a "quickie funeral" for little Tweeter and we called it a day.

On a side note, this past Saturday we ran (or rather...trotted) the Matthew Siravo 5K road race. The kids did a race as well, and really got a kick out of it. So in hopes to redeem myself, a friend and I will be running another 5K race this upcoming Wednesday.


Sophie's Story by Elaine said...

Clobazam helped Sophie also. Never made her SF but reduced them a little. She is still on it. I wanted to try to wean it before ACTH but our neuro didn't think it was a good idea. She is only on 2.5mg BID so I can't imagine that it is doing much at this point (her max dose was 5mg BID...I don't know why we didn't go higher). I wish I had some words of advice for the diet. Sophie was on it for about 6 months but it never did anything but make things worse. It would be hard to give it up if you had success in the beginning. The only thing I can think of is be careful of aspartame since I've heard some kids have a bad reaction to it. Hope all goes well with the appt on Monday.

baby trevor's mommy said...

We're playing Musical Boston, huh?! I don't know about you...but I'm half tempted to cross state lines...I just felt like the level of care at Children's is SO much greater. You can't replace the added experience of working with more kids. Anyway..

OMG...who walked out on you?!?!?! Shur? or the other one? I know I scared Shur...because I was pretty po-ed that she kept saying *if he were in-patient it would be easier* and I was like *he's BEEN in-patient THREE times since December! Why wasn't this taken care of then?* Grrrrrrrrrrr... But walking out?! OMG...I'd lose it!

Toby's last game was yesterday. But he is going to the Gulls camp...

Anyway...I'm sorry B. I wish things were easier. I know someday we'll look back & see how it made us (and them...and the whole fam for that matter) stronger. But right the guts of just sucks sometimes!



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.