Children’s Hospital of Pittsburgh

Seizure Shenganigans!!

Well, I’ll start off by saying that seizures suck.  I haven’t posted in a while (surprise, surprise) but since my last one we’ve had a few jaunts in the ER due to seizure activity and illness.  In the life of Lissencephaly seizures are almost always present and our situation is no exception.

A few months ago, Paige started a low dose of Keppra after a breakthrough seizure (I’ll get to this in a minute).  Thankfully, there have been no harmful side effects like irritability, mood swings, lethargy, and rage.  In fact, I’d say we have only noticed positive changes in her demeanor since starting.  She’s more alert, cognitive, and has a wider range of emotions.  Sure, she might wail and cry with a little more gusto than before, but on the flip she’s been giggling and laughing with vigor, as well.

Since she’s approaching two years old, I’ve been warned by her neurologist that since she’s growing bigger and more faster we might have to adjust her dosage more frequently.  It really depends on the frequency and amount of breakthrough seizures she’s having.  Coupled with an EEG we might come to find that we need to change or add a completely different medication to fit her type of seizure(s).

The past couple of months I would definitely say we’ve seen a “breakthrough” seizure.  So far, I’ve seen 2 and they’ve been pretty nasty.  The first one happened right before vision therapy and and she was in her Special Tomato chair.  Suddenly, she doubled over and got really rigid.  Her breathing became labored and she grunted and drooled.  Her left arm was raised and trembling.  Most likely, this was a tonic seizure and it clustered on an off for about 25 minutes.  That’s a REALLY long time!!!

During this time I took a video of the activity and called Andrew to come home from work.  We made it to the hospital and was hooked up for a one hour EEG.  Paige didn’t preform for the neurologists and she was stable the entire time.  However, based on the severity of her cluster, Keppra was prescribed.

I’ve honestly really relieved she’s on medication.  Aside from her ACTH, she’s been able to dodge any type of seizure activity and medication for over a year and a half.  It’s a nice security blanket to have and I feel better with the extra help.

Fast forward a few weeks and we have a young Will with a fever and a cold.  His fever was treated with ONE dose of Tylenol and lasted half a day.  A few days later Paige comes down with the same thing and I was hopeful it would be mild like her brother’s.  WRONG!  Paige started throwing up and the next few days were spent trying to get her to eat and drink.  She was limp and her fever was high so I rushed her to CHP where she received 3 bags of fluids, oxygen, and IV antibiotics for a night.  She was incredibly sick and it was so hard to watch.  What’s kind of crazy is that fevers and illness often set off seizures and she had absolutely NONE throughout the whole ordeal.  After a few days of rest she was back to her old self!

And now we come to this past Monday.  This story is going to look a lot like the first because it was during vision therapy (again) and it happened in the Special Tomato chair (again) and it lasted for about 15-20 minutes (you got it.. again).  When she came to she was perfectly pleasant and happy as a clam.  Can you say roller coaster of emotions?!

Off we go to the hospital but this time I refused an EEG because I knew she wouldn’t preform and it would be pointless.  Since she has a seizure disorder and they are going to happen I requested rescue medicine.  I can’t go to the ER every time she has activity so I’m glad to have these around.  She was prescribed Diastat and Kolonopin.

Diastat is pretty hardcore and I have to call the paramedics to monitor her when I administer it.  This will also mean another hospital stay because this drug is essentially Valium and can labor breathing and slow her system down to dangerous levels.  This drug will also knock her out for a day.  I also requested Kolonopin because it is less intense and instead of being out of it for a day, she’ll most likely only sleep for a few hours.  I feel a lot more comfortable with this drug but still hope I don’t have to use it.  Both of these drugs have to be given if her seizure lasts more than 5 minutes and since both of hers lasted a lot longer, the odds that I won’t have to use them are pretty darn low.

I’m actually pretty happy with the way I’ve handled myself during Paige’s seizures.  When I first thought of Paige having one I would get really anxious and get really scared.  But after being there while she experienced one, I was actually really calm and talked to her in a soothing voice while she was struggling.  When it was over, I just did what I thought I had to do and it was over.  I’m not saying that I loved the experience because I hated it, but it wasn’t as scary as I imagined and I’m kind of proud of myself for not freaking out.  Andrew and I made a pretty amazing team throughout and Paige handled everything like a rock star!!

Happily, our little Paige recovered nicely and she’s been having really good days and is working hard in her therapies.  She’s smiley and laughing, scooting around on the floor, and watching her favorite show, Dora and Friends.  Will is loving school and trying to beat cabin fever by building forts and calling people on the phone.

Picture time!

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Boston Trip Recap

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Aaaahhh, it’s nice to be back on my couch!  We just got home from our trip and it was productive, exhausting, and we even had some fun!  It was, actually, a pretty painless trip all-around.   Monday morning we were out of our house at 6:30am and were in our hotel exactly 5 hours later.  No hold-ups, no problems, nothing!  It was amazing and we had a whole day to explore, eat, and relax.  Unfortunately, it was 9 degrees out and windy as H-e-double hockey sticks so that limited most of the exploring part out for the day.  Let it be known though, had it been warmer out, we would’ve been all over that city and we’ll definitely be back for leisure at some point!  I won’t bore with details of the hotel set-up (it was a Best Western) and our fabulous dinner (Andrew had trout and I had crab cakes) so I’ll get to the point of the trip.

Tuesday we had appointments with a neurologist and a genetics counselor, both of whom have extensive experience in treating Lissencephaly.  We sent all of Paige’s records and scans to Boston Children’s and a whole team of doctors from neurology, genetics, and radiology reviewed them before we got there and compiled a report.  I’ll break down the appointments separately but I want to make a point that we didn’t go into these appointments blindly.  We know that Paige’s case is severe and we already knew what we can expect for her future.  We also knew that we wouldn’t hear any miraculous news that she’d be cured and the doctors in Pittsburgh had it wrong.  We wanted to know from an expert that the course of action with therapies and seizure control are correct and if there was anything else that we could educate ourselves more.  We were also encouraged to go from our local doctors because, while they are absolutely wonderful, they simply don’t have that much experience with Liss.  In fact, one neurologist said that she’s been practicing for 25 years and has only seen a few cases.  We just wanted confirmation.

The neurologist at Boston Children’s was incredibly personable and kind.  She knew that we traveled for the appointment and was clear and concise the entire hour we were with her.  We heard what we knew what true:  Paige has Classic Lissencephaly – Type 1.  Her whole brain is smooth aside from a small portion in the front.  Even though there are definite brain folds they were still abnormal.  Again, we can expect her to never walk, talk, or take care of herself, and she will eventually have uncontrollable seizures.  Also, due to her brain abnormality, she’ll most likely go through early puberty.  We definitely knew this, but it’s never fun to have to hear it again and again. One thing that the neurologist did say is that Paige will be the one to decide what she will and will not do.  With extensive therapies, Paige could very well learn to communicate using nonverbal language, sit up, move around, use her hands, etc.  Doctors are surprised every day and she said that she was pleasantly surprised that Paige was so vocal and interested in her surroundings.

As we know, seizures are a huge concern we have for Paige.  We know that they are imminent but they are treatable right now.  Since Paige has been off of her ACTHar steroid we have not seen any signs of seizures or spasms (thank God!) but since we know they’re bound to happen we are tossing around the idea of putting her on a preemptive anti-convulsive.  We are definitely not medicating for the sake of it being available but the reasoning is simple:  seizures can be incredibly damaging to the brain and even fatal.  They can wipe out any progress she has made in her 8 short months and render her nearly motionless.  They can trigger respiratory issues which cause other issues.. (you get it).

Our doctors in Pittsburgh and I originally agreed that we would wait to see what her seizures looked like before we put her on a medication.  There are so many types and medicines that it really would be effective if they could match the right one to the type of seizure.  However, the more Andrew and I thought about it, the more we’re not sure if we want to wait.  What if a massive seizure strikes and she never smiles again?  Or she stops cooing?  Or <insert rational/irrational concern>?  These are the things that keep us going and would be devastated if she lost those!!  Paige has a follow-up EEG this month and the neurologist agreed to wait for that to make a reccomendation.  There really is no right or wrong way to go about it.

Next was the genetics appointment.  We didn’t exactly know how worthwhile this appointment would be because we still don’t have our blood work results back from the lab in Chicago and they probably won’t be back until April.  We made our Boston appointments shortly after the diagnosis and hadn’t had a genetics appointment yet.  It is also kind of a “package deal” when you’re going to see this team and we’ll take all of the information we can get. The results of the gene panel really hold the key to what we want to know:  How will this affect our future family planning?  In my last post I mentioned several ways it could.

As we already knew, the genetics counselor couldn’t tell us 100% sure until she had the results (and even then it’s still not 100%) but the radiologist, neurologist, and she agreed that all of the evidence made it appear to just be a random gene deletion.  A freak genetic accident, if you will.  If this is the case, there is a less than 1% chance of this happening again and we can feel confident in adding healthy children to our family.  It was absolutely great to hear, but I’m not getting excited until that panel comes back.  Even then I’m not sure how I’m going to feel – I don’t like odds very much…

That pretty much concluded both appointments.  We really went in there for confirmation that we were proceeding with the correct forms of treatment and therapy, and left assured that we were. It was worth the trip to hear the information and their additional recommendations and now we have connections with two of the most incredible hospital systems in the country.

That. Is. It.    

Unless you want to know what we did for dinner in Boston.  In that case, I’ll tell you.  We went to luxurious Applebees after picking up diapers at Target.  Some things never change!

 I wish I would’ve taken more pictures but my iPhone doubled as a GPS, record book, and pretty much held all of the information I needed…

24 Hour EEG

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We’re back at it!  Back at Children’s Hospital, that is.  To make sense of all of the reasons and terminology, I’m going to have to backtrack about a month to explain why we are here.  It’s about a month’s worth of info so sorry if it’s long.

A month ago, when we found Paige’s diagnosis, we were told that Paige needed an Electroencephalography (EEG), to take a look at her brain activity, as soon as possible. The doctor said that we should expect it to be abnormal because patients with Liss are abnormal to begin with. Luckily, they had an opening and they would be able to do it in about an hour.  

I remember thinking to myself, “It’s starting…”.  The appointments, the testing, treatment plans, therapies, medications, everything.  Everything was happening fast.  Mind you, this was directly after we got news of how severe Paige’s diagnosis was and we barely had time to control our emotions and still trying to processing the news.  Thankfully, Meredith is a fourth year medical student and was there to explain procedures to us because were not prepared for any of this.

An hour later, twenty-four electrodes were placed on Paige’s scalp using glue and blow-dried in place.  Even though we knew she wasn’t hurt, it still was incredibly hard to watch her scream as the tech was putting them in place.  It was noisy, sticky, and uncomfortable but the process didn’t seem too terribly long.  When the lights dimmed, I stood next to Paige to keep her as still as I could.  The next half hour was pretty quiet until the tech placed a bright light about a foot away from Paige’s face.  The light blinked, Paige blinked, Andrew and I were like WHAT THE (INSERT ADULT LANGUAGE)?!  Meredith informed us that he was trying to induce a seizure and, as you can imagine, more explicits were used.  

The blinking lights were only a few minutes but they felt like it took forrr-eeev-errr.  It was a lot for us to handle.  Andrew had to leave the room and I had to look away.  As far as we could tell, she wasn’t having one so we were able to talk ourselves down.  Finally, the lights turned off and I think we all were able to breathe a little more.  When the procedure was finished and Paige was cleaned up, we couldn’t get out of there fast enough.  

Turns out, her brain activity was abnormal and since they couldn’t get a lot of information in an one hour, a longer 24 hour EEG was ordered.  To make a long story (just a little bit) shorter, we checked into Children’s at 8am, went through the same drill as previously stated, and were on our way home at 6am the next day.

Due to a not-so-good night of sleep, the day was spent napping only to be waken up by a phone call from the neurologist…

“We think she’s having infantile spasms.  You need to be admitted tomorrow to start a steroid treatment.”  

So, back to the hospital we went and discussed treatment options.  We decided to go with an injection steroid called ACTH because it had the highest success rate, least amount of side effects, and the shortest course.  I don’t mind having to give injections and Paige was tolerating them really well.  The only downside was that the medicine had to be shipped to my house, on ice, and they wouldn’t let us leave the hospital until they got confirmation it had arrived.  With it being ordered on Friday, that meant we had to spend the weekend there so treatment wouldn’t be disrupted.  The good news is that I got very comfortable with the injections and I actually felt more comfortable with the extra days of monitoring.

It’s been a little over 3 weeks since that hospital stay and we’re in the weaning process now.  To start, it was two weeks of a high dosage of the steroid twice a day.  This past week it was a lower dosage only in the morning and next week we stay at the same dosage but every other day.  

The Epileptologist said (oh yes, Paige also has an Epilepsy diagnosis) that all infantile spasms should be controlled after the first couple of weeks so that’s why we’re here.  Another 24 hour EEG and monitoring with a followup appointment right after.  As much as we’d rather not have to be here, we must say that this hospital has taken very good care of us.  Our room was set up to look very homey and there is someone in here almost every hour asking if we need anything.  We appreciate it and feel she is in great hands.  Of course, I’ve taken pictures to document the day…

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Wires don’t stop Paige from tummy time!
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The blinking strobe lights.  Not as scary this time!
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Cheeks for days!
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Still smiling!  

Wish us luck and cross your fingers for good news tomorrow!!

-The Barbours

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