Jack's Story

Jack was born on March 31st, 2009.  He was 3 days past his due date and I was in labor for 27 hours before he arrived, something he will likely never live down, and for good reason.  I had what the doctors would call an "uneventful" vaginal delivery and a healthy baby boy weighing in at 8lbs 8oz.  But let me tell you, it was an event!

It was a very exciting event that changed my husband and I from a couple, into a family.  Jack was a typical newborn.  He nursed well, though we had some feeding issues due to him being tongue tied.  Wow how I miss the days of that being our biggest issue!  But he slept well for a newborn, was sleeping 6-7 hour stretches by the time he was 4 weeks old and sleeping through the night by two months.

Everything was great and Jack was right on track developmentally if not a little ahead.  He was growing, cooing, smiling, and even rolled over when he was only a month old.  We though it was a fluke but he continued to do it.  When he was 3 months old I joined a fitness class 3 days a week to lose the baby weight.  It lasted 3 months and the last week I had mastitis and my 5 month old baby started doing something really weird.

It looked like he had the hiccups, but it clearly wasn't the hiccups.  It happened one time.  He wasn't upset, just sitting on the couch with me.  It ended and he was fine.  For those of you who don't know me, I have worked with hundreds of infants.  I have a 4 year degree in Early Childhood Development, worked in a day care during college, shortly after college, and then was a nanny for the first 5 years of my married life.  In other words, I know very well what is normal infant movement and behavior and what is not.  During that first week he had maybe 3-5 episodes, none of them upsetting him, and I was trying to recover from being sick.  I did video tape some of the episodes to show to the doctor at his next check up.

Thankfully we were going in soon and the doctor didn't think it was any kind of seizure, but refereed us to a neurologist just to be safe.  She also gave him the DTaP vaccine and sent us home with a number to call and set up an appointment.  I will never see that doctor again.  Why on earth you would give a vaccine that has been known to cause seizures to a baby you suspect might be having seizures is beyond me.  I called the neurologists office and was told there was a 4 month wait.  I burst into tears.  Once I called the pedi's office back they said they would order an EEG and if there was something wrong we would get in sooner.  That night my child screamed like he had never screamed before for over 3 hours.  It was a nightmare.  His seizures also increased dramatically and he started screaming and crying between jerks.  I have video of this that still makes me cry to this day.   At this point he was having 7 – 12 clusters a day. 

His EEG was set up for 2 weeks out.  In the mean time I found Infantile Spasms on google and completely lost it.  My baby had something awful happening.  He all of a sudden wasn't sleeping well at all and was not himself.  I actually showed up to the EEG a full week early and flashed my cute baby at the scheduling person when she told us we didn't have an appointment that day.  She got us in the next day!
The EEG sucked, but something was finally happening.  Those 2 weeks of him having spasms and not having a diagnosis were hell.

I was told that the EEG results could take up to 12 days, but that someone would call us.  The next day I had just finished nursing Jack in his room and I came out to 4 messages and my phone ringing off the wall.  The pedi's office, Jonathan, and the neurologist office called twice.  They told me to bring him in to see the neurologist.  Whenever I got there was fine, just put him in the car and go.  *insert more panic here*  So the neurologist's office who told me it would be 4 months before they could see us, all of a sudden had anytime that day open.

Of course my worst fears were confirmed when the head of neurology told us that our son had Infantile Spasms.  He didn't have the true background pattern on the EEG but it was abnormal and that along with the video confirmed it.  (The doc actually used the videos to teach the ER doc's what Infantile Spasms look like.)  They walked us through the secret tunnel under the building to the hospital and checked us in.  He was having 7-10 clusters of spasms a day at this point.  They did an MRI the next day which was September 11^th, 2009 (which was the worst day of my life because they wouldn't let my 5-month-old exclusively breast-fed baby eat all day) and everything looked normal.  They started him on high doses of prednisone and after 4 or 5 days the spasms started to decrease.

We had a very cranky and always hungry baby on our hands.  I usually ended up sleeping on the floor on a mattress in his room so that I could just lay and nurse him there all night long.  He gained a ton of weight, I was exhausted, but the seizures stopped.

The doctor expected that because they couldn't find a cause and he continued to do well developmentally, it was a fluke thing and he would likely never have issues again.  I wish this were the case.

When he was about 8 months old he started doing this funny thing where he would be playing and it was like someone pressed the pause button.  He would just stop for about 10 seconds.  Nothing would happen, I couldn't get his attention, couldn't snap him out of it.  I called the neurologist's office and they though I was crazy but told me to get it on video.  Which I did.  After the neuro saw it he still said that he didn't really think it was anything, but he ordered a 24 hour EEG, which turned into a 48 hour EEG.  Jack didn't have an episode on the EEG, which is why they turned it into a 48 hour EEG, but the 2nd day the doc told us that Jack did have some spikes in his sleep.  Not seizures, but definitely unusual activity and focused in the same area.  He didn't start Jack on seizure meds but told us to call if anything happened.

The day before Thanksgiving, Jack was almost 9 months old and I took him to get his 1st hair cut.  He had his first spasms since coming off the steroids.  I'm sure the ladies in the salon though I was nuts because it was a single startle, but I was looking in his eyes at the time and I knew it was a seizure.  Not long after that they started to cluster, I got them on video, sent it to the neuro and he order Sabril for Jack.  It only took a few doses to stop the spasms.

Not long after Jack started having simple partial seizures.  He had another 24 hour EEG scheduled in January of 1010 along with another MRI.  We left the hospital shortly after the MRI on the 3^rd day and two days later met the neuro at his office to discuss results.  I distinctly remember Jonathan saying, “I hope they find something on the MRI so that we have some answers”.  Never have I wanted to slap him more than I did at that moment.  Of course he hadn’t done as much reading as I had and didn’t know that the best chance for our son was if they didn’t find anything. 

That day I heard words I will never forget, “Tuberous Sclerosis Complex”.  I had no idea what the hell that was, but it sure didn’t sound good.  Tuberous Sclerosis Complex (TSC for short) is a rare genetic disease that causes benign tumors to grow in the brain, eyes, on the face, heart, kidneys and heart.  People with TSC often have tubers in their brain that are there from birth.  These tubers can cause epilepsy and in patients that have epilepsy about 50% of them have intractable epilepsy which are seizures that don’t respond to medicine. 

We were sent for a heart ECHO to confirm and were shocked to discover that he had 3 heart tumors.  6 months later we were even more shocked to discover that they had grown and he suddenly had 4.  We were talking chemo when our cardiologist met with a team of 7 other doctors to discuss Jack because the heart tumors from TSC usually shrink with age.  Thankfully they have not grown since. 

In the mean time, Jack continued to develop relatively well.  He crawled at about 10 months and was babbling up a storm.  After the heart tumors grew we came to accept that there will likely always be some health issue with Jack. 
When Jack was 14 months old we were referred to a neuro who specialized in seizures and also does surgery evaluations.   He was in the hospital for a week long EEG, SPECT scan (they had to inject a radio active isotope while he was having a seizure.  Talk about a stressful 2 hours of sitting with him hooked up to a 12 inch IV tube just praying one was going to happen!) and it was determined that he was not a surgery candidate at that time.  During the hospital stay we also started Jack on the Ketogenic Diet which is a very high fat, low carb, low protein regime.  Every bite he eat has to be weighed out on a gram scale to a 3:1 ratio.  That is 3 grams of fat to every one gram of protein or carbohydrate.  It is calorie restricted and everything is monitored very closely.  He has to get blood work done every 3 months, is on a heap of supplements, can’t have whatever we are eating, and I have a ton of cooking to do on a very regular basis.  Jack started walking 2 months after starting the diet, just a few days before he was 16 months old!   

Before the diet he was having up to 17 seizures a day.  Short after we though he went 63 days seizure free.  I had started to let myself believe that it was going to be his miracle.  Our hope was crushed when another mom at a play group gave Jack a dried cranberry without asking me and he proceeded to have a seizure.  Not long after that we installed a camera that recorded over Jack’s bed and discovered that he was having seizures at night too. 

He has had 2 EEG’s at home, where we took him to the hospital to hook him up and then he wore all of the headgear at home for 24 hours before we took him back to get unhooked.  Meanwhile I was emailing video of his seizures to the neuro and they had changed a bit.  He though that they were becoming more focused so he sent us to Houston to get a MEG scan to look into the surgery thing again. 

The scan showed that his seizures were coming from his right temporal lobe and that they did have a focus that could be removed.  Currently he is scheduled for the 1^st surgery on September 21^st.  They will go in and put EEG leads directly on the surface of his brain and then sew him back up.  They will then leave him hooked up to the EEG for up to a week and collect information.  From that information they will do what they call “mapping” to determine exactly what needs to be removed.  They are placing the grid (EEG) on his temporal lobe and his frontal lobe to make sure they get everything. 

The actual resection surgery is scheduled for the 28^th of September but that date is flexible.  We are hoping that it won’t be that long but are prepared for it.  In the mean time, we are excited that this could mean the end of epilepsy for Jack.  I am more nervous than I have ever been and the stress level is through the roof.  This is Jack’s best chance at having a seizure free life and thankfully he is not even 2.5 yet and likely won’t remember a thing!     

UPDATE 3-22-12

Jack has done well since surgery, all things considered.  He has started having a few seizures again, which was crushing.  They are small seizures though and only last about 20 seconds and usually only happen when he is getting sick.  He's been sick a lot since surgery, but hopefully he will be past that soon.  He is enjoying the modified atkins diet, as are we, but his language development had just soared!  He has started to put words together, knows his colors, and can count to 3.