Ben's Story




After a rough, and shorter than ideal pregnancy, Ben came into this world at 3 lbs 4 oz.  The doctors were ready and waiting.  They ended up doing chest compressions and giving him oxygen.



The next 11 days were spent in the NICU where he thrived and amazed everyone with how well he ate.
He came home to us and, with the exception of another week long stay in the NICU seven days later, due to possible Necrotizing Enterocolitis, he seemed normal and healthy...
until Nov. 15th, 5 months later.
I awoke in the night to Ben's little body convulsing next to me.
At the time I didn't know it was a seizure...all I knew was that something was very wrong.
I woke Andy up and he gave him a priesthood blessing after which we called 911.
I was kind of panicked as the operator talked to me and told me what to do until the paramedics arrived.
Ben was still seizing when they came.  Eventually, they just decided to take him in.  I watched from the front seat of the ambulance as they continued to work on Ben.  After what seemed like forever, the seizure stopped due to some medicine they administered.
The next couple of days were spent in hospitals and having the routine testing done.



Everything was normal.  The neurologist said that in 80% of the cases of a child's first seizure, it will be the only one.  And even if they have more, they will most likely grow out of them.
Our minds were more at ease and life went on.
Three weeks later Ben had his second seizure.  Another call to 911, another ambulance ride and another stay in the hospital.  A few hours after we settled in to our room on the pediatric floor, Ben had his worst seizure yet.  It ended up being 35 minutes long with 4 or 5 doses of medication to try and stop it.  I sat there and watched it all with such love and concern for my little guy.  After that one they put him on daily dose of  Phenobarbital.  The doctors were still perplexed as to why this was happening.  They did determine however that these first few were most likely febrile (fever induced).
After Ben's fourth seizure our neurologist prescribed Diastat (an emergency medication to stop a seizure) so we wouldn't have to call the ambulance as much.  It has been a life saver.


Over the next six months our little Ben continued to have seizures and it became clear that this was not just childhood epilepsy.  We tried multiple anti-epileptic medicines with no success.  He rarely came out of them on his own...he almost always needed the Diastat to intervene, and still, we had no answers.
Early that summer we started noticing some funny eye movements.  His eyes would move to one side or the other and the eyelids would flutter a bit before they would slowly come back.  It worsened over the next few months and then, the myoclonics began.
They started out mild; a quick jerk of the arm, a slight movement of the leg and over time they progressed to seizures so powerful they would literally throw him to the ground.  (In March of 2011 the myoclonics were so severe that we bought a helmet for Ben to wear to protect him from the constant bumps, bruises, bloody noses and black eyes.  This too has been a life saver...literally)


It was about this point (Fall of 2010) that our neurologist mentioned the possibility of a few different syndromes for which we could have Ben tested.
  For some reason we didn't pursue anything immediately, but eventually we got serious about doing more testing.  One of the syndromes had kind of stuck in my mind but I couldn't remember the name.  All I could remember about it was that it started with a "D".  Ben's pediatrician looked on his computer and started naming some things.  I recognized it when he said it.  Dravet Syndrome.  He read a little about it since he had never heard of it and tactfully told me he hoped that wasn't it.


A simple blood test was all that was needed.  However, our insurance rejected coverage.  We wrote a letter explaining why we felt this was critical for our son.  Rejected again.  We wrote another letter and had our neurologist write a letter as well.  This time they approved it.  That whole process took several months and so we come to May of 2011 when Ben was finally tested for the mutated gene that often presented itself as Dravet.  They told us it would take a few weeks to get the results.  It was summer and so there was plenty of things to fill our time and minds...(vacations and such) but it stayed there, in the back and I was constantly wondering.  I had read so much about Dravet Syndrome on the internet...crying with each new discovery.  I certainly didn't want this for my son and I kept telling myself that the test would come back negative because all the tests up to that point had, but I think I knew somehow that this was it.  All the symptoms and stories matched Ben's own too well.


I remember coming home from a vacation late one night.  We got everyone in bed...including Andy but I wanted to sit down and check my email before I too hit the hay.
There was an email from the neurologist.  My heart started pounding hard as I opened the email. It was a short email, with one sentence that jumped out at me..."The test appears to be positive".
It's the strangest feeling...devastation over the diagnosis and yet such relief to finally know and have an answer.
I went in to Andy who was half asleep and told him.  He let me cry for a few minutes and we assured each other that we could do this and everything would be fine.  I then slipped in to Ben's room and shed silent tears over my precious boy.


Even though we finally have an answer, things haven't changed much.  There just aren't a whole lot of answers for parents of children with Dravet Syndrome...and so there's not a whole lot we can do.  One thing we do know about Dravet Syndrome is that things are constantly changing.  Seizure types, lengths, and severity are never a constant.  There's also a wide range of symptoms and abilities among children affected...much like autism.  We don't know what Ben's life will look like even a year from now but we do know how blessed we are to have him in our family.  He is an angel...loving, brave and strong...adored by all who know him.
We also know that we will do all we can to provide a life full of opportunity, happiness and love for our little Ben.


Currently:  Ben is 3 years old,
-has roughly 3-4 different seizures types:
Hundreds of myoclonics a day, 2-3 tonic clonics a week as well as 2-3 partial complex a week,
 -is on two medications (of which we're not sure how much they help),
-is developmentally delayed,
-uses mainly sign language to communicate,
-loves trains, Elmo, and his Grandpas
 -and is starting special ed. preschool this fall...he is thrilled to get to ride the bus!
-We are also going to give the Ketogenic Diet a try...yikes!

This is a new helmet (March 2012) since his old one fell to pieces after a year.

1 comment:

  1. What a cute little boy, and lucky to have such a good family, too (I am impressed by your words, and remember your husband as my last and favorite seminary teacher). I'm excited for Ben to be going to school; I just finished working at a special education preschool and oh, it was fun! And a great start for any child. I loved to watch how they each grew, in that setting.

    ReplyDelete