Soren's Genetic Testing

For those of you who have not been reading this blog since forever or may have forgotten the many details of Soren's journey, let me do a little review.

WAAAAAY back when this all began, we did a few genetic tests on the boy.  Because Soren had Infantile Spasms to begin with, the first candidate to check for gene mutation was the ARX gene.  (I mean, obviously?  Right?)  Soren's ARX gene was in perfect form.  Then along came CDKL5 (STK9, if you're nasty).  That test was done in late '06.  But the results came back in '07 saying that Soren did not have this gene mutation either.  So then we just had to wait until another "seizure disorder gene mutation candidate" came along.

Or did we?

Fast forward to 2013 when my cousin Brad and his wife Christy told us about an institute that was doing genome mapping for children with rare genetic disorders.  Hello?  Sign us up!  So after a fun afternoon of cheek-swabbing, they mapped my genome, Aaron's genome, and Soren's genome so they could compare the three against each other.  And then over this Thanksgiving, we got the results!  (Don't be jealous of our holiday fun, people.)  

The most likely cause of Soren's seizure disorder appears to be a mutation of a gene that neither Aaron or I have, making it something singular to Soren.  So we don't have to worry about Moira having this mutation, which was one of the reasons we wanted to get the test done.  The mutation would have occurred REALLY early when he was developing.  It could have even been a mutation in my egg or Aaron's sperm.  One of those things we may never know.

Now why do they think this is gene mutation is the cause as opposed to the other possible candidates?  Well, when they did some searches, they found two other children with this same gene mutation that also had 1) Early onset seizures 2) Hard to control seizures 3) Developmental delay.  Now, two other kids is obviously not a lot.  But it's a something.  In order to confirm that this is truly the gene and not just a Red Herring, more kids with unknown causes for their seizure disorders would need to test positive for this gene mutation.  But, it's interesting to have a possible answer to the question after all these years.

Oh, and I'm not revealing the gene's name because the doctors have official stuff to write up and I don't want it "spoiler alerted" by some overeager mom with a blog.  But if this ends up becoming official, I'll blog about it agin.  And make up T-shirts with gene name on it.  

I'm not kidding.

Amy 

Soren Update Summer 2014

Soren is continuing to do well.  Yes, he's still having seizures.  But he'll actually have days when he doesn't have them.  And the days that he does have them he bounces back quite quickly.

We're continuing to adjust his new meds with success.  It's a lot of guesswork, but Soren is responding well and we feel good about the choices we're making.  We've gotten some smiles and laughs.  He's more engaged.  He lets us know when he's upset or wants to get out of bed.  There's a lot more "typical" behavior going on that is very promising.  When Aaron enters the house and Soren hears his voice, he tries to look for him, working to turn his head or body around to find him.  When all of us are surprisingly at home, Soren gets a smile on his face.

This summer we went to Carpinteria for Aaron and my birthdays and our 20th anniversary.  Seizure-wise, Soren started out good, but then he had a really rough couple days.  No rhyme or reason to it.  That's just how it goes.  The city of Carpinteria has a beach wheelchair that folks can borrow, so we took some lovely walks along the beach.  And one of Soren's favorite things to do is relax in the shade on the beach and get his toes in the sand.  We've been to Carp enough that Soren is seems comfortable in the town.

Soren is also responding to familiar family members.  My family went to Catalina Island to celebrate my Dad's 70th and my brother's 44th birthdays, so Soren ended up hanging out with everyone quite a bit.  My brother Patrick came to stay with us a week later and when he arrived, Soren became very animated and chatty.  He clearly remembered Uncle Pat and had many things he wanted to say to him.  Similarly, my Dad and Kathy came over this weekend to watch Soren and Moira while Aaron and I went to a wedding on Sunday.  They arrived and then went out to with Moira to get her some running shoes for P.E.  After they left, Soren was clearly looking for them and chatting away.  He was glad when they returned and enjoyed hanging out with his grandparents.

Moira volunteered at Soren's school this summer and she was very surprised to see how much he was sleeping in class.  She totally called him out on it.  Aaron and I then realized, as parents, we needed to tell Soren that we had certain expectations from him when he went to school like we did for Moira.  So we spoke to him very matter-of-factly and he started stepping up his game.

When the school year began, we found out that Soren was getting a new teacher.  Last year he had a new male teacher.  This year he has a new female teacher.  And while he has had some awesome male teachers, Soren likes the ladies.  Always has.  The boy is a flirt.  So between the pep talk and his new female teacher, he's been staying awake in school.

I haven't updated in a while because I've been very busy working and with the family.  Then  I received a comment on Soren's blog from the parent whose 10 year-daughter was watching Bronies: The Extremely Unexpected Adult Fans of My Little Pony, the Brony documentary where I'm briefly interviewed.  He happened to hear me talk about Soren and he tracked me down because he has a 14 year-old son that, due to a brain hemorrhage as an infant, was left with multiple disabilities and intractable seizures.  He started reading my blog and realized that while our sons have different diagnoses, we've had many similar experiences.  And that's part of why I've written this blog.  To help other parents who are on this same journey find ways to manage things.  To help them see that they're not the only ones dealing with annoying medical companies.  To say, we've tried this and it worked or it didn't.  I'm so glad that my little part in the Brony Doc found someone and he found the blog and that it reminded me that I need to post about Soren so that all of you can know how he's doing.

Soren is a strong boy that doesn't give up no matter how crappy his day starts out or ends.  I'm constantly impressed and inspired by him.

Amy
   

How's Soren?

Haven't written in a long, long time and realized I should really answer this question for inquiring minds.

How's Soren?

Well, he's actually doing really well.  We started him on a new medicine back in November and while it doesn't completely control his seizures, we've seen lots of benefits that make continuing the medicine completely worth while.  First of all, even when he does seize, he bounces back much quicker.  He can even have a whomping Tonic-Clonic in the morning and be okay by the time he's going to school.  That's impressive!

But we've also seen behavioral changes, and that's been so encouraging!

The changes we have seen are:

• Turning to both sides.  Getting to his stomach again.  Turning on his side in bed.
• Ab crunches, Head lifts.  Indicating he wants to get up.
• Resting his head in his hands to sleep while sitting up.
• Vocalizing more often and more consistently.  New sounds (GUM)
• Improved mood.  More engaged in activity around him.
• Little to no teeth grinding indicating less anxiety.
• Smiles. Giggles. (many times)
• Scooting out of his vision box.
• Desire to stand up more.  Straightening legs when lifted.
•  Feet tapping together indicating excitement or interest in activities.
• Swallowing water when brushing teeth.
• Increased eye contact.

It's been really amazing.  We're also currently trying to wean Soren off of one of his longtime meds that conflicts with this new medicine.  It's a slow process because every time we drop Soren down a 1/2 tablet, he has withdrawal seizures.  So we're seriously dropping down 1/2 a tab only one evening of the week and then don't drop it down another 1/2 tab for 3 weeks.  This gives his body time to adjust.

Soren also battled an ear infection recently which upset his applecart, but all things considered, he managed quite well.

So that's the update!  We are hopeful that once we wean the old medicine that the new medicine will be even more effective.  

And most importantly, Soren is much happier, which makes us happier!

Amy