Get Ready to Read

I'm so sorry that it's taken me so long to update the blog. It seems since we started the process to transition Ava out of Early Intervention, and into the school system.....things have been....well...crazy busy!!!

First things first. Our baby girl turned 3 years old December 1st. We are really so proud of her, in every way you can imagine.

Secondly, we received the results of Ava's SCN1A genetic testing, a very important piece of information we had been waiting for. Ava's test came back with what they call a "single variant change in the gene". Basically meaning that it's neither a yes she has Dravet's Syndrome (SMEI) or no she does not. This particular change is what the lab likes to call "not proven to cause epilepsy"...but.....clinically she is a tell tale case of some kind of SCN1A type epilepsy in so many ways. We all actually thought is was going to be a definite yes. So, at this stage, because both Neurologists (both Providence and Boston) believe this is quite possibly the reason why Ava is suffering from uncontrolled seizures. We have yet to do a muscle biopsy to rule out any mitochondrial disorder, but, one thing at a time.

Ava has continued on the Ketogenic Diet, although, her seizure control as of lately, has been poor, and the diet is, once again, is in question as far as its efficacy in treating her myoclonic seizures. Additionally, her Triglycerides are over 900, putting her at increased risk of pancreatitis among other things, she has gained virtually no weight, and she has some vitamin deficiencies which are causing concern to both Neuros. We are all concerned, so a lot has been on the table.

Back in November, we trialed Topamax (it just made her waaay to dopey, so we backed off fairly quickly. We did, however, notice that she did very well at a low dose (25mg per day) in combination with the diet. We attribute that that to her being a bit more on the acidotic side.


To make a long story short, after a few days in a row of continued breakthrough seizures while on the low dose of the Topamax (we've continued the Clobazam for a few months right now), we decided to completely wean the Topamax and begin our planned trial of Vigabatrin.


What a DISASTER!!



Not only did she have some major withdrawal seizures from coming off the Topamax...she developed a mystery rash after about 2 1/2 weeks into our Vigabatrin trial, which caused our Neuro to yank her off it immediately. The Vigabatrin, we believe, aggravated her epilepsy. We've never seen an initial reaction so bad with ANY med we've tried!

The months of December and January have been riddled with respiratory illness, after respiratory illness. Ava has been through three antibiotics, and is still very congested. We will be going to the pediatrician tomorrow to have her checked....again. She just does not even look well.


On New Years Eve....December 31st 2008 Ava had her first grand mal seizure in over a year. It took 30mg of Diastat to break it.


We were soooo devastated. All of us.


Truth be told, after I had awhile to think it over, we've been so vigilant treating her this past year during illness or periods of breakthrough seizures with her Valium and Lorazepam that we must have prevented quite a few major seizures....just by being smarter....and better at reading her. Well......at least that's what I've been telling myself to lessen the pain.


Ava officially started school this month, and we're in week three (although today was a snow day for us). She goes to preschool 5 days a week from 8:05 to 10:45. She has a one on one RN with her at all times to make sure she is safe at school. We really couldn't have asked for a better nurse. She has years of PICU experience, and is completely comfortable taking care of Ava. The school really came through for us in this respect (after a lot of hard work on my end upon our entry into the school).

So as it stands now......after consulting with both our local Pedi. Neurologist, and our Boston Neurologist, they both feel it's time to put the diet to the test and begin a taper. This is no easy task. We will lower it approximately a 1/2 a ratio every two weeks. Which, puts us at about 3+months to fully wean the diet...if that's what we so choose to do. We've all decided that if, at any time during this wean, she begins having falls again, or, her seizure activity is clearly worsening, we will bump the ratio back up...and...essentially...stay on the diet and try to work on the problems we are encountering with her triglycerides, weight gain etc.

We have also re-introduced her Topamax, in hopes we will see some significant change seizure wise. So far, we have seen a minor reduction, but nothing significant.

As it stands right now, we will wait until her respiratory illness clears up, begin the taper of the diet, and, well, just see how it goes. We have no idea how this will turn out, but we just NEED to know if all this work, and suffering (on Ava's part) is worth it. We need to know if it's still helping, or even making a difference.