maple syrup?

I somehow managed to work myself up into a complete frenzy yesterday morning..

Those stupid high-dollar Huggies are not doing their only job -which is obviously to contain the contents!

And because of our little accidental leakage, I had to change Austin's tee-tee ridden crib sheets...

Only to get the strong whiff of maple syrup...That totally took me by surprise...it didn't smell like urine at all. I made Chad take a sniff too. He agreed.

I thought about it a while...how strange that was. Then I remembered reading a while back about Maple Syrup Urine Disease (or MSUD). It's a metabolic disease that kids are sometimes tested for with IS. I started to panic and went straight to my medical library (aka the internet)...

Totally freaked, I called the neuro first thing yesterday morning. Even freakier...they returned my call within 20 min!!! They told me to take Austin to the pedi to be evaluated and have 2 tests done. A serum amino acid and urine organic acid test. One was a blood draw, the other was a urine test (which by the way took a bottle of juice, a bottle of milk, and an hour for him to "perform")..

Coincidentally we had our 18 month well check that same day, so I was able to wrap it all into one visit (I know they're just loving me for that too).

It's strange how much things have changed for our well visits lately. I used to go in armed with a list of urgent questions...Why is he spitting up? How much formula should he have per feeding? Just exactly how many jars of baby food should he eat a day...how many of each? What color poop is normal...and consistency...? I was poster child for new motherhood! Now, I realize I might have been overreacting just a tad (ya think?)...if things weren't going according to my trusty Baby 411 book, I was a basket case!!

So, yesterday and even our 12 month visit went quite differently. I had no questions regarding feeding, poop, or even sleeping. No questions about getting him off the bottle or transitioning to a cup. All those issues that were SO VERY important pre-IS, were no longer in the front of my mind anymore. I was the one talking most of the time. I'm very much aware of what he should be doing and what he isn't. Just walking into the waiting room of the office reminds me of that. I just went down the list of new goals we've accomplished and what we're working on. There was no waiting for his approval. There was no waiting for suggestions or comments. I didn't complain about the trouble we've had with his eating or communication. Rather I joyfully announced that he's finally self-feeding and that he's starting to clap and reach for me. Forget about how long ago he should have achieved that goal...I was a proud mommy that he's doing it now!

Anyway, back to the point...I'm still waiting on the results from the tests. I'll be impatiently waiting until I hear back from them....even though I'm starting to get more confident that he does not have MSUD. There are I think four different classifications for the disease which range from very severe (which is almost always detected within the first week of life) to the mildest form, intermittent. The intermittent is the only category he would possibly fit. Really, the only symptom he even has is the smell of the urine (which *fingers crossed* may be explained by something simple). Plus, it's an extremely rare genetic disease...chances of him having this are very low.

I'm optimistic that this will end up being nothing more than crossing one more underlying cause off the list. Better to be on the safe side, I guess. It certainly wasn't something I could ignore after reading the severity of the disease.

I'll let you all know when I hear something...

Sophie's Story

I'm sure all of you living in this Infantile Spasms world know about Sophie and her upcoming surgery in a few months...But, for those of you close to my family who routinely check in on Austin, I'd like to share a story of a precious little girl named, Sophie, who could truly benefit from everyone's prayers.

Sophie is ahead of Austin in this IS battle by two years. She, too, was born in October (2005 instead of 2007) and diagnosed in May the following year. It has been a nonstop fight for seizure freedom for nearly 3 years now. Three years. Despite the odds, this adorable 3 1/2 year old has continued to progress and learn. She walks, talks, plays, and interacts. However, the endless list of anti-seizure meds have given her little relief from the seizures she suffers everyday, and her impressive development is now in jeopardy because of this. She has been to see Dr. Chugani several times, and is now, finally, a candidate for surgical resection.

Ever since her mother reached out to me after our return from Detroit, I've followed her story closely. At that time, she was not being considered for surgery and you could sense the urgency and pain in her mom's words. Now, she has a new option. And it's full of seizure freedom and developmental opportunity. But with that comes risks and uncertainty. She's not an ideal candidate which makes this already fearful experience all the more terrifying. I can't even fathom the true reality of this situation...and I've even recently sought out this option for Austin myself.

I'm drawn to this little girl's story for reasons not entirely clear to me. Maybe it's the charm and lovable character she portrays in her videos. Maybe it's because her determination and continued development reminds me so much of my Austin. Maybe it's because her mother's courage and persistence to free her baby girl from the statistics inspires me. And, possibly it's all the similarities we discovered after our visit to Dr. Chugani... and that despite not being a candidate in the beginning, that doesn't mean there's not hope for the future (as terrifying as it may seem). In any case, I will continue to follow her journey to seizure freedom and pray that this surgery gives her the future she deserves.

Please include little Sophie in your thoughts and prayers as she and her family prepare themselves for this courageous step to recovery from this devastating disorder, Infantile Spasms.

Is something clicking up there??

After last week's OT, I was dreading today's visit a bit. Austin was non cooperative last week. We made no progress to note. It was also the first day on Banzel, so I tried to shrug it off and not get too discouraged.

This week proved to be quite successful! Although he's still up and down in the mood department, he was much more willing to participate! Our big accomplishment this week...

Austin attempted six times to pull the handle down on his See 'n Say! OT pulled it...Austin sat...waited...looked around...and grabbed the handle! OT helped him pull it down...he sat...waited...looked around...and grabbed it again! This went on six times! No doubt there was a connection there.

Another biggie...he's starting to open his "mailbox" on his "house"! We hide his "cell phone"...close it halfway...and he pulls the lid down and reaches for his phone...The next time it's the same, only we close it a little more...Same scenario. This goes on until it's completely closed. I'm not 100 % convinced he's grasping the object permanence..but I'm thrilled that he's actually functioning a toy! I say I'm not totally convinced because he is still not looking for toys yet. Out of sight, out of mind...he's on to something new. But, it could very well be the beginning of it...I'm hoping anyway.

He's also showing BIG reactions to singing again! He gets SOOOO happy when you start to sing...I don't remember getting this type of reaction since he was 5 or 6 months old. I'll start, "You Are My Sunshine," and flashes an ear to ear grin (a near laugh, really), claps and takes off running -the other direction!!

I've been talking about how much I'm hating the Banzel...but maybe it's turning a few wheels up there. Spasms seem to be a little better. Maybe it's worth waiting it out...We'll see.

Reassess

Our epi responded to my Banzel concerns this morning...

Since Austin is on such a low dose right now, he wants to give it 7-10 days and reassess the situation.

I'm not entirely sure if it's the med or not so I agreed...but said that if the spasms continue to go up from here, that I will not wait that long and we will need to take him off.

Moods are bit better. I'm getting a few laughs here and there and a little more interaction. I know these side effects have a tendency to be worse in the beginning so I'm trying to be patient in that area....trying is the key word here!

I hear the little one stirring from his nap...guess it's time for lunchies!

Tomorrow

Today is one of those days...and yesterday...and the day before...

Where I just want to dig deep down and pull out all the emotions and stomp 'em...

It's Day 5 on Banzel...

By no means am I expecting it to "work" already...

But I didn't expect it to get worse either.

This weekend proved to be a shaky one at best. Banzel seems to be quite potent for Austin...and not in a good way. He's been in and out of a zombie-like state...there's been cluster after cluster and drop after drop. I'm even scared to admit I might have seen a brief moment of another type of seizure. A calm but rhythmic twitch of his left arm while waking from a nap.

I'm terrified...and torn...and emotionally spent.

In the front of my mind, I'm dealing with the constant-never-ending-spasms...delay after delay...possible deal-breaking side effects from new meds...

And in the back of my mind, I'm trying to push out the reminder that we are approaching our one year mark to this nightmare.

But, like I said, first and foremost is to stop these stupid seizures...I'll have to sort through the rest later (emotionally), because I just don't have enough in me to face it all head-on right now -even though it's tugging at me like a bad dream I can't shake. I just have to keep tucking it back down for tomorrow.

The more I try to sort, the worse I feel. I wish it was as simple as dealing with it one day at a time. We all say that...but really...you can't help but think about tomorrow.

Endocrinologist...an IS expert???

During Chad's visit this morning with his endocrinologist, they somehow got on the subject of Austin and his IS.

According to him...Infantile Spasms are usually caused by a change in diet! What tha...???

So confident he said, "Think back to when the spasms started...Was there a change in his diet?"

Chad told him we've taken him to one of the top neurologists in the world for IS and they've run numerous tests and so forth...

And he fired back, "Of course they've run tests...they'll keep running tests...that's what makes them money!"

Hmmm...

I'd like to think it could be that simple.

Kind of like when some people tell me (upon hearing of Austin's diagnosis)..."Oh, not to worry, he'll grow out of it...they always do."

Sparing them the details of the disorder, I usually smile and reply, "Wouldn't that be great?"

The Pill Pulverizer

My sweet aunt-in-law got me this contraption a few months back...didn't need it at the time, but knew it would come in handy...

Used it last night on our new med...Banzel.

A total surprise...because I've spent the last week or so dreading yesterday's visit and talk of the ketogenic diet. No mention of that. Weird. He's the one that said we would be discussing that as our next plan for treatment nearly two weeks ago. Who knows.

Anyway, our visit to Texas Children's was quite a bit better than our last...in every aspect. Staff was better, epi was better, PARKING was better...and no labs! Much better.

Those were actually our exact words the second he walked out of the room. Mom and I turned to each other, and in almost perfect sync, we both said, "Much better.."

To sum it up...He is in agreement with Dr. Chugani about Austin having cortical dysplasia. Right now may be too early to see it on an MRI, which is why we will be repeating again in months to come. Probably six months at least. That is potentially a very good thing though. If that is the case, we may be able to remove the problem area surgically. He said it may just be too early to detect at the moment because of the growth and development of his brain. When he's a little older and his brain more developed, he thinks it may be more visible (on MRI) and easier to locate the origin of the activity on EEG. Right now, with the hypps, it's just chaotic all over his brain.

So, the plan...trial the Banzel with current meds Zonegran and valproic acid. The Banzel and valproic acid have a special interaction, therefore the Banzel will remain at a lower dose than normal (but with the same effect).

I mentioned the Topamax/vigabatrin combo...getting little reaction from him. He explained that Topamax and Zonegran are so similar that he would prefer not to try that at the moment. He said it's likely we would have the same result as we did with vigabatrin/Zonegran. X that for now.

Dr. Chugani did suggest we try Banzel...because of that, I'm eager to give it a go. I'm not exactly thrilled about seeing his already unsteady feet become potentially worse. Austin's always tolerated meds pretty well with minimal side effects...but he's already wiped out after just one dose. He konked out after a 2 1/2 hour nap and slept all night. Then, was awake only 2 hours before snoozing again...Seepy boy!

Besides having to schedule the lumbar puncture for next month and and EEG in three months, that's all I've got in terms of updates on our visit.

Thankfully, it was not what I expected. It was uneventful and surprisingly easy...I was all ready to really give it to 'em too! I guess if you expect the worse, it's gotta exceed your expectations!! ;)

Easter prayers

Not sure whether it was the two new prayer blankets, yanking the Melatonin, the moon on the decrease...or Austin's weird seizure-cycling...But, there is a decent improvement in spasms since yesterday. They're not gone (dang it), but definitely better.

Yes, I was presented with two beautiful handmade prayer blankets for Austin yesterday. One from my mother-in-law's church and the other from my best friend's parents' church. What thoughtfulness and talent goes into each one of those. It melts my heart. Someone sat down and made this for my family. My Austin. Saying a prayer for him. They've never even met him. It certainly turned my day around.

It started kind of blah yesterday. Expecting severe weather, we weren't able to get out until after 2 pm. What a beautiful day it turned out to be though.

No egg hunt for Austin, but he got some goodies and a few plastic eggs from Grammer...still waiting to see if he'll discover his surprise inside on his own...

Another big upside of the day. Getting to see Ali again after...oh, six months probably...My lifelong best friend. Growing up, moving off, getting married...makes it harder every year to get together. She hadn't seen Austin since last July. Regardless, though, she's always been right here for me throughout this whole IS ordeal. Just a phone call away! But so nice to see her and the fam again after so long!

Anyone ever hear of the full moon affecting seizures? Our OT swears by it. Dunno. She says all her seizure kids' go up during a full moon. Never really noticed with Austin much.

I also stopped the Melatonin over the weekend. I tapered a bit...not really knowing what to expect after so long (he'd been on it since December). I read on my IS group that some neuros have said it can increase seizures. I never really paid much attention because our epi recommended it. He's off it now though...Sleeping just fine...well it's not any worse, we'll put it that way!

Even though he's not and hasn't been seizure free for almost a year now, I always welcome these "good" days...He's happier, more alert, gets more freedom to roam...I'll take it!

Combined treatment

I found this abstract from an article courtesy of Sage Publications (thanks, Danielle!)...

Combined Treatment With Vigabatrin and Topiramate in West Syndrome

The clinical and electroencephalographic (EEG) response to combined therapy with vigabatrin and topiramate was evaluated in five patients ages 7 to 15 months affected by West syndrome in an open-label trial. Four patients had cryptogenic and one patient had symptomatic (tuberous sclerosis) West syndrome. In cryptogenic patients who failed to respond to pyridoxine, vigabatrin was titrated to 80 to 100 mg/kg. Because control of infantile spasms or an EEG improvement was not obtained with vigabatrin treatment, topiramate was added (3-3.8 mg/kg/day). In all patients, the combined therapy with topiramate and vigabatrin achieved a rapid and complete normalization of infantile spasms, and in three patients with cryptogenic West syndrome, the EEG also became normal. In only one patient, transient anorexia was observed. This drug combination led to rapid neurodevelopmental normalization in cryptogenic patients. The results are promising and justify more trials in larger numbers of children with West syndrome. (J Child Neurol 2004 ; 19 :385-386).

Sabrina Buoni
Department of Pediatrics, Obstetrics and Reproductive Medicine Section of Pediatrics Policlinico Le Scotte University of Siena
Raffaella Zannolli
Department of Pediatrics, Obstetrics and Reproductive Medicine Section of Pediatrics Policlinico Le Scotte University of Siena
Mirella Strambi
Department of Pediatrics, Obstetric and Reproductive Medicine Section of Preventive Pediatrics Policlinico Le Scotte University of Siena
Alberto Fois
University of Siena, Siena Italy


A veteran IS mommy brought up this combo after one of my most recents posts. I had commented on the absence of clusters while Austin was on the vigabatrin. I thought it was definitely worth researching...and was surprised to have found this. I printed it to take with me to our epi appointment Wednesday.

I honestly hate the thought of Austin being on vigabatrin...and even though this study included only five patients...it's worth discussing.

Party at my "crib"!!

An oldie, but goody...and most appropriate for our crazy night!!

What a night last night...

For some reason I struggled to fall asleep. In the bed over an hour and I was wide awake. Then, just as I was finally drifting off...

I got invited to a "party" in the next room over!

A few sips of water, a diaper change, and six trips to Austin's room later, it was nearly 3 am!!

No fussing, crying, nothing...Just ready to party!!

Then again at 6:30...

I squeezed in as much as I could...but as I type, I'm working on a 16 oz energy drink!!

clusters vs singles

Looks like the ketogenic diet may be in our near future...

I'm not sure if I'm ready to go there. I've finally gotten Austin to start trying yummy new foods. The thought of yanking them away...breaks my heart.

When I got the call from the epi nurse on Friday, she said the doctor wants to discuss the diet at our next appointment on the 15th.

His blood levels for both the zonisamide and the valproic acid were both in the upper range of normal. So, we can't increase them at the moment. He said it's time to discuss other options..notably the keto diet.

I need to do more research. I really don't know enough about it to accept or refuse the possibility yet. All I know is that I couldn't bear to see Austin fast for 2 days...and I can't imagine life with such a restricted diet. On the other hand...I like the idea of life without seizures more.

It's been a rough couple of days...seizure-wise. Clusters are starting to be the norm again. We went several months where clusters were rarely seen (during vigabatrin trial). As soon as we took him off, they started creeping back up again...But, the face-first full body falls practically ended too. Should we have tweaked that, I wonder? Maybe have added a drug to control the major drops? Kind of hard to know when our doctor never even asked how he was doing on it. At the time, I thought, it's not working...it's worse...let's get him off. But now I wonder if separating the two different presentations might have been helpful. That's why I'm still holding on to our leftovers...just in case. But, I never want to see those heart-wrenching falls again. He still falls forward, but in a totally different way. Plus, he transformed into a new baby immediately after the wean. He started laughing and smiling on a regular basis...there was new progress in his development.

I honestly don't know what's worse...the clusters or the drops. The clusters are light and chance of injury is lower. But, I practically lose him for the duration. He just zones out and makes no eye contact. I have to watch his every stinkin' move with the drops. Don't stand over this, don't walk over there, don't walk with that...I constantly worry about serious injuries. He has no freedom to wonder and explore. Our perfect treatment would fix it all.

Needless to say, we have lots to cover at our upcoming appointment next week. Sadly, it will be with Dr. Doom and Gloom...but I didn't want to pass up such a quick appointment. I recently got all the reports in from Detroit, and I'm eager to get them explained again (since the shock has worn off a bit). If we get any of the attitude we got back in October, that will be the last visit we have with him.

If any of you seasoned IS parents have any info for me on the diet or other possible meds, it would be much appreciated!!

Thirty...the new twenty??

Sorry guys...wasn't implying that 30 is old...

Just sayin'...when I'm infinitely 20 in my mind...

A 29th birthday just burst my bubble! One more year before I kiss my twenties goodbye!!

***Birthday wishes***

One year closer to 30...


And one year away...


UGH!!!



(I've got to send out birthday wishes to my two birthday buddies...both turning TWO today!
Happy Birthday to Trevy & Karlee!!!)

Part III -The lady in the box...

Sticking pretty close to our small hometown, Chad and I have never really had much need for a GPS. We rarely venture out of our "comfort zone" here in SE TX so having one would really be a waste of money. But, we realized it would be invaluable during our trip to Detroit...so we rented one along with our rental car (and car seat -that's another blog, but a head's up, don't ever do that!).

Our trip from Budget at the airport was smooth sailing. "The lady in the box," as we liked to call her, got us through the partially closed interstate and all the detours that went along with it.

So when we needed to find a nearby supermarket for baby essentials, we turned to our "lady in the box" once again. The closest market was downtown, but it was street parking only, and because of the upcoming St. Patrick's Day, there was a nonstop party going on there. That would be a no-go with Austin and the stroller and all the hoop-la surrounding us.

We quickly put in "Wal Mart" and... voila! A Wal Mart just a few miles away! Off we went...

A quick note: Detroit is only a bridge away from Windsor, ON, CANADA!!! Do you see where this is going???

Anyhoo, there was massive construction going on right and left. Roads were closed and some not to be found. Our dear "lady in the box" kept telling us to go towards the bridge to Windsor. I thought we were just going in that general direction...not actually TO Canada (I had no idea how close it was)! We kept following her directions, and before we knew it we were paying toll to get to the bridge. No turning back. Cars were piling up behind us and there was no out. We trucked on to Canada.

Once we got over the bridge and to the border, we were stuck again. A nice guy walking the line of cars passed by and Chad rolled down the window and said, "Man, we were just trying to get to Wal Mart!"

Turns out, we didn't have legal documentation on Austin...no birth certificate or social security card with us. Everyone seemed surprised that we were travelling without it...but honestly, we were just trying to get to Wal Mart! Who takes that to Wal Mart???

We couldn't proceed into the Canada Wal Mart because we just might be trying to sneak a kidnapped baby across the border!!

Nah, it wasn't quite so dramatic, but they really wouldn't let us through because we had no proof that Austin was our baby. Just a security measure. We were directed to Immigrations where we had to get paperwork that the baby we brought across the border was the same one we were bringing back...and that we were immediately turned around.

For any of you northerners near Canada, it's probably not a big deal...but for us SE Texans, accidentally stumbling into Canada...quite an adventure! The closest border to us is Louisiana!

After it was all over and done, Chad said, "...next time we type in a destination, we might need to specify which country!"

(By the way, I'm sure that the address said Windsor, ON, but I don't think Chad realized it...he was driving and said he was in charge!! You know men, it's bad enough that they need directions in the first place!)