Neurology

EEG Update and Some Thanks

On April 20th, Paige had another 24 hour Video EEG.  I’ve been documenting her recent seizure activity on the blog and this particular EEG was to hopefully “catch” a seizure in action to determine an appropriate medicinal course to keep them at bay.

**Quick version** If you haven’t been keeping up, or are just tuning in, we’re pretty sure Paige is having tonic seizures induced by startles and being woken up.

As I predicted, our girl didn’t have one “episode” during our whole hospital stay!  Believe me, we tried to induce one.  A nurse did the light test where they flash blinking lights in her face, I woke abruptly while she was napping, and I tried to scare her a bit.  (Her neurologist got a pretty good laugh watching me try to induce a seizure when they looked over the footage…)  Nothing worked.  Not. One. Thing!  So, even though we didn’t really get what we were looking for, I ultimately took it as a good thing that she wasn’t having them and figured I’d get a call from the neurologist saying, “No change!”.

Wrong.

Well, maybe.

Paige’s neurologist called me this morning and told me that while they did not see any seizure activity her brain waves looked “scary”.  I’ve explained this before, but Paige’s brain activity will never look normal because her brain structure is not normal.  They can get a baseline for “Paige’s Normal” and still detect dangerous or problematic activity going on.

So, what does this mean?  We don’t really know.  Paige is acting as happy as ever and even had a burst of development!  She has been rolling over unassisted, appropriately says “yeah” (in the cutest voice, might I add), shakes her head no (mostly when she doesn’t like a food or get a diaper change), and has been reaching and playing more and more.  All the while, her brain is looking “scary” and we don’t know why.

What I do know is that she has been having some sort of seizure activity.  In what capacity?  We’re not sure but we’ve had to give her rescue med, Klonopin, a number of times and, while it’s worked, the fact hat we needed to use it means… something.  We just don’t know what.  We also know that seizure activity tends to change around age two and she’ll be that age in June.  We know that we’ll have to deal with seizures in some way, shape, or form for the rest of her life.  A leading Lissencephaly doctor at Boston Children’s told us that she has a 100% chance of having a seizure disorder, so there’s that.

Our options:

1.  Another round of ACTH injections.  Paige has had a successful round of ACTH during her bout with Infantile Spasms when she was 6 months old.  This is a heavy duty steroid that I had to inject in her thighs twice a day for a month-long course.  She gained weight, was completely miserable, and didn’t smile for weeks.  However, after she weaned, we had ourselves a happy baby with a “near normal” EEG.  It worked and it worked for a long time (yes, a year is a long time in the Liss world).

2.  Another oral steroid.  Month-long course.  Probably the same as above aside from the needle pricks and pain.

Let me add, Paige was a CHAMPION during her ACTH treatment!

3.  Try another epilepsy drug on top of the one she takes twice a day to see if that helps.  Most kids that I know with Liss are on more than one.  Sometimes a handful or more.

4.  Wait and see.  Since her behavior and development is great, this sounds like a no brainer but there is a chance that the “scary” brain waves can mean trouble’s a-brewin’ and she can have a really BAD seizure and complications that follow.

I don’t even want to think about the complications that can follow.

I’m currently waiting for another neurologist in Pittsburgh to give their opinion as well as the previous doctor’s I mentioned in Boston.  From there, Andrew and I will make the most educated decision for Paige and hope that it works.  We’ve always told ourselves that we’re going for quality of life over quantity but it doesn’t make these decisions suck any less.  We shall see.

Andrew and I are doing okay after the information we were given today.  We’re happy that she’s so happy and there’s still a lot of facts and options that we need to acquire for her doctors.  All we can do is consider this a plot twist in our lives and do what is best for our girl.  We’ll definitely keep you updated!

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On another note, we want to give a HUGE thanks from the bottom of our hearts to those who have supported our t-shirt fundraiser.  We met and exceeded our goal in less than 24 hours..  24 HOURS!!  

The amount of support, well wishes, likes, shares, and donations brought me to tears and we’re so thankful!  So, thank YOU!  We can’t wait to rock our PAIGE PATROL t-shirts!

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Family Updates (sorry to leave you hanging!)

It’s been a while since I’ve posted and in my last post we were preparing for Paige’s 24 hour EEG and I apologize to have left everyone hanging with the results.

Long story short, there were no changes from her last EEG.  That’s good news!  BUT, after this one, her neurologists recommended putting her on anti-seizure medication.  While no seizures were present, Paige’s EEG showed to have a lot of “seizure like tendencies”.  After talking about the option with Andrew, we initially decided to hold off on the medicine because she wasn’t actually having them.

We’ve noticed some questionable movements from her like squinting her eyes, stiffening her muscles, and holding her breath.  We kept a close eye on them and sent videos to her neurologist asking his advice.  Her neuro called back and told me the movements we were seeing didn’t look convincing to him and he supported our decision to hold off on medication.

A few days later, however, her Occupational Therapist was working with her and noticed the clenching of the fists, holding of breath, squinting, and hunching over all at once.  Before, they were here and there and were very quick.  This time, her activity lasted a half an hour and they were hard to stop.  Paige’s OT was concerned and agreed it definitely looked like something.  We cut the session short and I decided it was time to go to the hospital.  Luckily, Andrew was on his way home  from work and I was able to take her straight to Children’s.

When we got there, Paige’s activity was still present and the neuros on call requested a 1 hour EEG.  While they were asking me questions and getting ready to start, Paige started clenching, held her breath, and definitely stiffened up.  Of course, while I hate to see this, I was relieved the neuros saw it in person.  Right then and there, we decided it couldn’t hurt to start the medicine.  Her doctors agreed she was stable enough to go home and we left with a prescription for Keppra.  The medication works on a number of seizures and has very little side effects so I was happy about that.

Paige’s regular neurologist called back a week later and said that he read over both of her recent EEGs and told me that no seizures showed up and she was NOT having them.  Again, GREAT NEWS, but it still didn’t explain her questionable movements.

Funny thing is, the medicine seems to be working in different ways!  Her “seizure like activity” has definitely lessened and she seems to be more cognizant.  When she’s mad, she’s M.A.D!  When she’s happy she laughs more.  A wider range of emotion is present and we’ve started to notice more communication from her.

Before we do anything with her, we talk to her about it and ask her questions.  Often, we know exactly how she feels about it.  She loves her bath and when we ask if she wants one, she gets noticeably excited.  When we ask her if she’s hungry she grunts and we know that means ‘yes’.  When she SEES her stander she SCREAMS!  We know she hates that.  Paige obviously gets excited over bath, food, car rides, shopping trips, and when Dora the Explorer comes on.  She does NOT like her stander, toys with loud bells and whistles, and getting her diaper changed.

This may be a pretty big goal, but I’m going to try to ‘potty train’ her soon.  I know that she’ll always be in a diaper, but I’m going to start to sit her on the potty to get her used to the feeling.  Maybe some day she’ll learn to hold it or wait till she gets the potty cue to actually go in it.  Paige constantly shows us she’s more capable of doing things we didn’t think are possible  so it’s worth a try.

Paige’s big bro, Will, is also doing well.  He got completely spoiled over Christmas and is still loving his toys.  He loves school and playing with his buds.  He’s super creative and has a wonderful imagination!  Paw Patrol and Ninja Turtles reign supreme in our house and he loves to play X-Box (using a fake controller) with his daddy.  He’s also very excited about taking ice skating lessons in March!

Next month, Andrew and I will be celebrating our 8 year ‘dating anniversary’ on a Gateway Clipper dinner cruise and will thoroughly enjoy our date night!

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…