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.

Round 1

Today was our "Eligibility Meeting" with the School Department. I've been stressing about our transition out of Early Intervention (where Ava gets her Speech, Physical, and Occupational Therapy) into the school system for months.

My Early Intervention coordinator told me she's never seen ANY mother so prepared. Excuse me as a pat myself on the back.....

:kidding:

I was ready with my arsenal of letters....for ALL her doctors stating why she needs a one on one nurse at all times while at school. I had hand outs on every type of seizure she has, the effect of recurrent epileptic seizures on the brain, web links to video clips of some of Ava's seizure types, and a complete two page list of every single time she's ever been to the hospital. Her complete neuro psych report, letters from the neuro to pedi, a representative from our local epilepsy center, one from our local special education advisory committee, and an advocate from RIPN (Rhode Island Parents Network). All people who spoke up during the meeting, asked questions I missed, and "had my back" at every corner.

I thought I was going to have to give the poor school nurse a brown bag to breath in after we gone done going through some of Ava's recent seizure scenarios.

As it turns out the school had been doing some preparations of their own in anticipation of Ava entering the school to receive special education services. To my surprise (and relief), the head of special education has had every intention of approaching the Superintendent to get Ava her one on one nurse.

My arsenal........was not needed after all.

Actually all the therapists, and the preschool teacher(s) were extremely appreciative to receive all the information about Ava's seizures, and seizure types. I also prepared a hand out for them detailing Ava's strengths, weaknesses, and how she learns best to allow them to get to know her a bit before she arrives. They felt much more at ease feeling educated about what they were dealing with. It felt good.

Even better.....I actually LIKE all the therapists.

Today was a good day.

On top of it all, I FINALLY got approval from my insurance company for our referral to Boston Children's to see the neuro and dietitian. Dr. Neuro called today to review the results of Ava's digitrace EEG. Same old story....Generalized spike and slow wave discharges.............

with an "mentionable" number originating in the left occipital region

Is it actually normal that I was excited? Excited about the fact that FINALLY she might be showing us a focal point? I'm actually hopeful that my daughter might be a candidate for brain surgery.

Lastly, we discussed how things have been lately, and what we're going to do about it. Our seizure control has been so poor as of late, and her myoclonics have begun to cluster regularly, to where she needs her "rescue med" (diastat) to break them. This is new for us. She also had a weird tonic seizure recently, and a month back had another unusual clonic seizure which we had to break with Diastat.

Dr. Neuro wants to wean Clobazam, and start Zonegran. He also wants us to STAY on the diet.

He's approached me about Zonegran numerous times. I just don't want to compromise her cognition or language skills (a side effect of Zonegran). But, at this point, her seizures are compromising them, so it's a catch 22. Zonegran and the Ketogenic Diet aren't exactly friends. She'd be at an extremely high risk for kidney stones, among other things.

Tonight I feel good that I was a voice for Ava today, who's speech they deem "unintelligable" .

I love this kid

I clicked on my blog link this morning, and this picture of Ava (goofing off during a wedding) popped up....and made me laugh! Especially considering what I'm about to post. Even Madison and Christian can't help but laugh at her sometimes, because she really is, such a tool!

Currently she's obsessed with the word "shut up". Mind you, she refuses to say her name. She refers to herself as "ME". Everyone in the family knows where she learned the dreaded phrase......listening to her beloved brother and sister in the car! Now, she blurts it out to ANYONE who is making eye contact with her! For instance, we were out to dinner Sunday night and a nice, sweet old gentlemen came up to our car (I was pulled around front to pick up the others) and stuck his head in the window to talk to Ava. Before the old feller could even get a word out Ava screams "SHUT UP, SHUT UP, SHUT UP". Now, mind you, sometimes I can get away with certain things because her language isn't always crystal clear....but....this time...there was no mistake.

If I could have crouched underneath the steering wheel, I would have! Of course, I apologized up and down, and thank God, he didn't seem offended. I'm sure her Digitrace EEG, wires coming out her head look helped with the sympathy vote.

So we've all decided to just ignore her when she says "the word". Anytime we've tried to correct her, she says it even more, even louder, and pretty much....all day!

So if any of you are in Rhode Island, walking to your car, or in the grocery store, reading off your list or talking to a friend, and you hear my little angels voice in your ear.....telling you to "shut up" just keep on walkin' *LOL*.

Don't take it personally, I give it another 2 weeks and it will be history!

Three

I can't Believe I'm participating in this!!!! But I've been Tagged...so for the sake of good sportsmanship, here it goes:)


Three Joys


my faith - without this....I would be nothing.

laughter - laughing has always been such a big part of my life....thanks to my mother. I LOVE practical jokes and am a total prankster (when I have time). I have a quirky sense of humor, and I'm KNOWN for laughing at inappropriate times (yes...I'm a am a former childhood church laugher). In fact, NOBODY ever wants to sit next to me at church to this day, because THEY start laughing...when I'm being totally serious (especially these days *LOL*).


my family - I really just love down time with my family, especially the kids. Those random days where we're all hanging out or playing, are totally priceless. It's just....what life's all about. What did I ever do that was important before I had children!! I also look forward to those lazy days with the cousins and parents just laughing and chilling out.

Making Memories................

Three Fears


Absolutely, hands down, number one fear

Not fulfilling my purpose in this life

**no explanation necessary**


failure - of any kind. This fear has held me back from many, many missed opportunities, but taught me some invaluable lessons in life.

making mistakes as a mother - the most important thing I've ever done with my life is creating (with some help...) three lives. Three unique, beautiful human beings. I know I can never be perfect, and mistakes will be made.....but I want all my children to be genuinely good, caring, intelligent, successful human beings. I want them to grow up feeling loved and safe, treated equally, and fully equipped with all the tools they will ever need to make a valuable contribution to this world.



Three Obsessions


Coffee...Coffee...Coffee.... I've tried to give it up three times...

a really good glass of red wine! .....nothing else needs to be said!

keeping it real - anyone who knows me knows this already. I'm a stickler on this subject. I absolutely cringe around people who constantly put up a front. I'm as real as they come.

Three Interesting Facts

I have a motorcycle and LOVE to ride (especially with the kids).

I'm terrified of horror movies, and can't REMEMBER the last time I watched one. (I want to say high school!)

I 've been to Africa...three times!

Words of Wisdom

This one experience I had this past February keeps resonating in my mind......and has been for months. It comes to my mind most often when I'm going through a hard time. Whether it be Ava struggling physically, or me struggling emotionally to wrap my heart and mind around what has....and is.....happening to every person in this family because of Ava's disability. When I'm struggling to try and accept what her future may.....or may not hold.

When I'm feeling sorry for myself..........because NOBODY could possibly understand what we go through. The sleepless nights, the YEARS of no sleep.

The crying.

in my car.......on the phone to my husband......and as I lay down to sleep......with my 2 year old next to me because she can't sleep alone......because she might die in her sleep.....from a prolonged seizure.

The guilt....that I'm not doing enough.....that I haven't done EVERYTHING THAT COULD POSSIBLY BE DONE for my daughter, to help her live a normal life. That I'm not smart enough to understand all the in depth medical terminology tossed around me on a daily basis.

God....why couldn't you have picked a Harvard Grad. to take on this job *LOL*

Nobody mentions.......the guilt.

So I've gotten totally off track from the story I wanted to tell so here it goes:)

: and how cool would it be if the people involved in this story actually read this and freak out thinking how such a thoughtless statement.....affected someone else right down to their core:

When Ava was in the Pediatric Intensive Care Unit this past February with Flu/Pneumonia (caused by aspirating due to a 45 minute status seizure), then a case of life threatning sepsis, we ran into another family in the ICU lounge. Their son was in critical condition after suffering a bowel obstruction, and emergency surgery. Their son had Cystic Fibrosis.

We had seen each other for over two weeks...here and there....and we shared bits of information with one another while we were passing through. On our last day in PICU, after 21 days in Intensive Care, I ran into them that morning.

We exchanged e-mails (of course, I lost the teeny, tiny, piece of paper I shoved in my bag) so I was never able to contact them, although maybe they still have my e-mail:) We got to talking about friends and family, and I said "I struggle so much because nobody in my life REALLY understands what we are going through, and how hard this is....day in and day out".

He turned to me and said....so simply "I would never want any of my friends or family to ever understand what this life is like. I would never wish them to even live one day like this."

It just hit me like a brick.

This man, as his son was fighting for his life, still, never coveted the one thing I can never get off my mind. The reason I'd just rather walk around angry and bitter, because nobody understands. Whatever they say, do, or don't do (my major complaint) is just always wrong. All wrong.

So when I get in this mode, my heart takes me back to the PICU lounge. Over, and over again. Until one day..I'll finally just get it.

It will be one of those moments that I get an overwhelming peace, and know in my heart.....I can just let this go.

By the way......how is Ava doing???

You don't know how many times I hear that question. From acquaintances, friends, even people that don't even know us very well. I wonder at times if anyone REALLY wants to know the answer.

Both Matt and I have found that many who ask.......don't really want to hear the answer if it's anything other than "great, wonderful, better than EVER"

So warning to all....if your one of those people......... don't read any further. This won't be an easy read & won't have you feeling all warm and fuzzy at the end.

People just ask to be nice, as a polite gesture.....and I get that.....I'm guilty of it myself in my "before it happened to me" days. But quite honestly, these days, it really gets the best of me. Don't ask if you don't want to hear the truth. And when I tell you exactly how she is doing....don't cut me off, pretend you have a phone call, or say "awwwww...that's too bad" & go back to living your perfect life and never give us a thought or a prayer. Just don't ask.

Maybe I shouldn't be posting tonight............................

Ava has been having clusters of "new" seizures lately which consist of her eyes deviating upward and blinking constantly. We've had to use her rescue med (Diastat) many times these past few weeks to break these clusters. Strange enough, the myoclonics we've tried so hard to nix, have all but gone (maybe 3 or so a day) We've also noticed some absence seizures rearing. It seems as though ALL her major seizure activity has shifted to sleep time. She's been having horrible myoclonic clusters almost every night. I upped her nighttime Clobazam dose hoping it would help, but nothing.

We've had to rouse her nightly to either give her Diazapam or Lorazepam to take the edge off & help her sleep.

My poor baby. She can't even sleep anymore. The diet, however, is in question.

Again.

It will all come to our 3 day digitrace EEG we will be getting done this Thursday. I'll have a lot to think about next week. So until next week, we'll sit tight. My heart is so heavy tonight. I'm very physically exhausted from the nighttime seizures, but mostly, I'm scared.

Scared of what the EEG might say. Things have shifted seizure wise, and I don't like the way things are going. I'm scared of what is going on inside her brain, and that it could mean Ava may loose all the progress she's made. Yet, even with what I'm seeing on the outside.

I still believe.

I believe that God is in control of this situation. I believe that I can give all this pain, heartache and worry and he will turn it into peace beyond understanding. I believe that one day we will overcome this monster that has stolen our happiness, our sleep, and our precious family time that is all but a distant memory sometimes.

So to those of you who do care, and pray...for real.

We need it. Especially this week and next.

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!!!!