The Longest Update Ever

It's been a long time....what can I say. It seems the magnitude of Ava's condition has finally caught up with me.


Thirty pounds later, and a few more wrinkles, I think I'm finally turning the corner, and ready to blog again. Maybe it all started when I got to thinking....and actually letting the thought stick around for awhile....that MAYBE...she will never be rid of this.

That she is now a solid year behind her peers cognitively, and we seem to be widening the gap instead of closing it.


I actually had to look at that. And worst of all........





feel that.





All I just keep thinking is.... how could she have been born so perfect. Five fingers, five toes....quick labor....easy pregnancy. I want to press the rewind button to the first few weeks when nothing was wrong. To go back to the very first EEG we had at 6 months old when they said "it was normal" and hold on to that....... and press the pause button.





Now....she is CLEARLY different. Not only do we all see it. We feel it. A lot more now than ever before.





It's a hard pill to swallow.








So here's the (entire year) update in a nutshell. Since my last post, January of this year, so much has happened.



Firstly, we weaned off the Ketogenic diet this past April after about a year and a half on the diet. It wasn't even really a planned wean. When the though actually crossed my mind...and I let it say for awhile.



MAYBE............





We'll NEVER be seizure free.







Whew....






I hate even spelling that. Thinking that.....Feeling that.



It's that one thought, that sent me into survival mode. Barely getting by. Waiting for the sun to go down and the day to be over so I could dream.


Because a dream is all I had that made me have that feeling again. That one moment in time when you actually exhale.



And say to youself.............

In this very moment.............I'm happy.......things are good.................

Still,



I only exhale in my dreams.



So back to the Keto wean....the weird part, was that even though she was in 2+ Ketosis, her seizure activity was o.k. Not off the wall, like I would have thought. Like I imagined it would be off the diet. Our miracle that stopped the 60+ drop seizures she was having at only 2 years old. That cut down her life threatning seizures to only 1 a year instead of 1 every 3 weeks.



I think we even lost our "frequent flyer" pass in the Hasbro ER.



The wean didn't exactly go as planned. Ava pretty much had weaned herself off the diet by these daily sneaks I couldn't figure out. Anyway......Dr. Neuro was less than pleased, and had wanted to plan this out. A very careful, slow wean, as to not "rock the boat" so to speak. But in typical Ava fashion it was an abrubt, high drama, tons of withdrawals, then..well. Status Quo.

After a few med adjustments and the seizures were still present....but not absolutely out of control..and for the past few months I've been ok with that.

I want her to eat.

Pop Tarts (her favorite), chips, bread, orange juice....all of the things we take for granted every day were things that were forbidded to her...and she was still having seizures...every day.

I had enough. We all had enough. So if we had to watch her have seizures all day...it mine as well be with a pop tart in her hand!!!

I Love You Mommy!

I Love You Mommy........



Those 4 word I feared I might never hear. Those 4 words that I thought for sure the epilepsy would most certainly steal from me. My heart can only bring me back to when she was 2 years old....hardly talking....still.....not saying her name, and riddled with seizure after seizure with no light at the end of the tunnel.



Falling...





Crying...





Stitches...





and pain.....





for ALL of us.



It's taken time, a lot of hard work, patience, acceptance, and, well, a lot of extra love...but....she said it. And she says it all the time now...............



I Love You.





Is it totally wierd that regardless of the epilepsy (that we are always struggling to get control of) and all the major set backs we've had. I'm proud. Proud of her...for perservering through days of non-stop seizures, migraines, and yucky ketogenic food.



Proud of my other children...for trying to make this work.........



Sacraficing for her......for our family...........



Proud of my husband for providing for our family during these hard times when her medication cost more than our mortgage......



And maybe it's selfish of me to say...but......... proud of me.



For keeping the faith.



Believeing in her.



Believing in God.



and....well......believing in the referigeratior.



The verse I have taped to it.



"Through faith and patience you will inherit the promise". Hebrews 6:1



Maybe you might ask. What is the "promise" ? Well..that's the whole thing. I've had that verse there for almost 2 years now. Some days the promise was t0 get through the day...and other days it was having the grace to use my last nerve to mediate a fight between the other kids and still keep my cool.



Yet, the big picture always lingers. The "end" result. Will Ava be O.K. Will she grow up to be "normal". Will her body ever live without seizures.



That.....I don't know.



But what I do know is each day I look forward to God's promise for me. I look for his mercy and favor in every step I take. Even on the bad days. I look for his peace. ...which some days...IS my promise.



I'm grossly optimistic..even though my odds aren't with me.

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.