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 usually....in 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 now...it'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 grateful.....so 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!!!!

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 day...it 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.

Coffee...Coffee...Coffee....

So it's no secret that I've really been pretty down the past few weeks. I know, like always, I'll roll out of the gutter and get back to being myself...but right now....I"m just having a really hard time bouncing back.

That being said....I just couldn't resist sharing this with everyone.

Today, after 1 meeting with the school liasion (which didn't exactly go well), 1 speech therapy session, and 1 two hour Early Intervtion playgroup....I was feeling pretty drained, and really needed a pick-me-up. I decided to head to Starbucks (and order a very large iced coffee with lots of sugar!) before going home and finishing the day.

So we're waiting in line, and as I'm telling the barista my order....Ava screams "GET MOMMY'S COFFEE". I just couldn 't stop laughing! I guess it was obvious even to my 2 year old who had been examined and in therapy literally all day....that I was the one who needed something.....RIGHT NOW!!!

As stressful, and heart breaking as things can be sometimes....I sure do love having another little one. She might not be perfect, but at times, I just have that overwhelmeing feeling that she's exactly who she's supposed be. I don't know what the future holds for her, but something tells me.....she'll handle it just fine.

With a little coffee....I might just be o.k. too.

Breaking Records

I know it's been awhile since I've updated, but I've just been having such a hard time dealing with things.

So let's start with the good news. We've made it passed our dreaded 8 week milestone. We've never made it longer than 8 weeks withough a major status seizure and hospital trip. This week will be 10 weeks...no staus epilepctus.

It's been so hard to see Ava struggling with the drop seizures again, after almost 4 months of "freedom". I've just been so sad to see this happening to her. She just wants to be a "normal" two year old sooo badly, and absolutely HATES when we have to make her take a break from the sun, or physical activity when she's having a bad cluster of seizures. My heart has been very, very heavy these past few weeks.

I'm really having some serious reservations about putting any more time into the diet, as what we are seeing daily is telling us.....it's not working. We've had discussions back and forth. Neuro, me, Matt, neuro again. We weren't able to see the out-of-state (Mass.) Dr. we had our hearts set on, and will have to wait to for our 2nd choice to squeeze us in the end of July.....which right now...seems like forever. I'm just not feeling 100% about terminating the diet until I feel like we've exhausted every possible option with it. I need a good, experienced set of eyes to look at our menus, mealtimes, every little thing we're doing....and see if there is anything different that would help us get better control.

There really isn't any other anti-epileptic medication that is on the table for us right now. All the choices we have left....aren't good ones. Somehow....something just has to give for Ava. The Clobazam seems to help a bit. Especially the first few hours after she takes it. I called neuro yesterday to see if we could add a small afternoon dose, and see where that takes us.

Madison and Christian have been soooo busy with sports, school plays, and end of the year stuff. It's been a lot of running around to baseball games, softball practice, school play rehearsals, performances...etc.

I wish the sun and heat didn't irritate Ava so much, as it makes it really difficult for us to have "fun in the sun" so to speak. We signed the kids up for a 1/2 day camp and 15 field trips over the summer. They are totally psyched to start (after the summer we had last year)! Most of their school friends will be there, and it will give me a few hours to get organized in the morning.

I've been swamped with appointments trying to get Ava ready to transition all her therapies from Early Intervention into the school system (on top of all our regular appointments)! Lots of "seizure" talk....which I've had up to my ears of these past few weeks! I'm soo worried about how she's going to do in school physically. Heat, loud noises, and sunlight are major triggers for her. We're still working out the details, but I can already tell...it's going to be a fight for us to get what she needs to be safe at school next year.

Well off to make some more Ketogenic meals!

Ages and Stages

Ava's been talking and learning so much these past few weeks. Although her seizures have returned, she's taking it all with stride. She's really been making us laugh so much lately with all her cute little two year old antics.

Yesterday, we decided to restart anti-epileptic medication. It was a very tough decision, but we have to do what's best for not just Ava, but everyone in the family. We will be starting Clobazam next week, and hope it gives us some better control without affecting her learning and language as negatively as some of the other meds.

During our appointment yesterday with our Pedi. Neuro I really saw our situation in a very different light. As I was complaining about the recent seizure activity Neuro reminded me how terrible and unhappy Ava was on Depakote, and her months of no sleep on Keppra, when in the end, she was still having the same amount of seizures.

Quite frankly, I must agree with Neuro, this is the best Ava's felt physically in quite some time (despite the seizures). It really made me realize that the medications were: a) not providing decent control and b) making her feel worse than the seizures. So the fact that she's feeling good for the most part, and able to learn and remember things despite the seizures made for a really tough decision yesterday. I've been so obsessed with the seizures and my ultimate goal to be "seizure free", I never bothered to think about how she might feel. If she could tell us.....would she want to be on medication.......or deal with the seizures and feel "normal".

So in the end, all parties agreed. We must keep trying to work toward giving Ava the best quality of life possible. And right now....that means a low, low dose of meds to give us a shot at better seizure control, and us continuing with the diet.

Because it was so difficult to get and keep our feisty little two year old on the Ketogenic Diet, we all decided that taking her off the diet to test it's effectiveness would be ideal, but just not in the cards for us. I've worked so long and hard to actually get her to eat on a daily basis and not reject the foods, and because she had such wonderful success in the beginning, we're going to stick with it for awhile longer.

We also decided to head to Massachusetts for a consult at Mass General to help us fine tune the diet in any way we can to get better success with some more experienced dietitians.

Last night, after pondering everything that happened during the day, and after a comical phone conversation with a friend I was truly amazed by all the stages (and ages) we've been through with the epilepsy monster.

Let the Games Begin!

Baseball season is here, and this week is "Game Week". Christian has his first game tomorrow, and we're back in activities mode. Quite honestly, last year, Ava was so sick that the two older kids really didn't get to do as many sports and activities as we usually do. In fact, truth be told, I really wasn't up to facing anyone. All the questions, the "you poor thing" faces....I just couldn't do it. Anyone who knows me well knows that there is one thing I absolutely cannot do.

A poker face.

As much as I've been hemming and hawing about the diet, things are better. Not perfect....but better.

I'm much more comfortable with accepting Ava for who she is, and not trying to pretend things aren't exactly what they are. She is constantly examined by every mother, father, and town resident who knows she's had a seizure disorder. In all truthfulness, I think I'm really starting to be O.K. with it (except for the occasional ignorant comment). It's easy to forget what life was like without a special needs child, and instead of getting royally pissed off by the looking, the questions, and the totally weird comments sometimes, I've really been trying to picture "the old me" in the other persons shoes.

So now that Mom's not a ticking time bomb anymore*LOL* we're all really excited to start the summer. Madison's been working hard on a school play. She's working the tech crew, and absolutely loves it. Madison's not the "I want the spotlight" type, but is definitely the artsy, organized type. So this has suited her perfect. She starts softball in a few weeks herself. This will be her 3rd year, and she itching to get started.

As for Ava, well, she's shaping up to be a very busy little 2 yr. old. Even though we've been seeing quite a few breakthrough seizures, she's talking and learning at lightning speed (go figure). We changed the ratio on her diet (more fats, less prot. & carb), and it's seemed to make a slight difference, but we're still seeing too many breakthroughs. In the next 2 weeks we will be moving her up to a 4:1 ratio.

She's been sleeping beautifully the past 2 months and I'd really hate to start a med & have her go back to being massively irritated and sleepless. On the other hand, I'm ready to do what's best for her....whatever that means. So the next few weeks will be crucial for us.

Spring Break

The kids have been on vacation all week, and we've all made it through alive, although we do have three days left! The weather has been phenomenal and we've been on lots of bike rides, and clocking in tons of baseball practice. Christian started his coach pitch T-ball & Madison starts softball soon, so we're looking forward to getting back in the swing of things.


Ava has had a roller coaster of good days and bad days over the past two weeks. It's so hard to correlate her bad days with any one thing, as she has been on a sneak-a-thon with food. She's been caught eating crumbs off the rug, and pretty much anything that looks like food. Needless to say, Matt feels it's the best thing that's happened so far as I'm vacuuming like crazy and the counters are always clean. The first thing she does when we go to anyone's house is comb the rug and corners from crumbs.

We decided to change the ratio of her diet from 3:1 to 3.5:1, in hopes we can see a bit more consistency, and better control. We're going to give this a few weeks and see where we're at. We are still completely off all seizure medication, and the goal is to stay that way. She is still doing so well with her speech and she is getting so much stronger. I really think that 2 week bout with the flu/pneumonia, then all the other illnesses that followed really knocked out her physical strength, as she's made so much progress over the past few weeks. She's back to running away, climbing up the swing set, and all her other fav. activities.

So we're still plugging along with the diet and praying we can stay away from meds.

We're looking forward to a seizure free summer!

Say it again.....................

SEIZURE FREE SUMMER!!!!!!!!!!!!!!!!!!!!!!