Part 3, living life with Dravet Syndrome

On my last blog I wrote about our family adjusting to our new living arrangements of the home we were renting due to losing our home because of incredible medical debit, the loss of one of our businesses, & the overwhelming exhaustion of the extreme loss of sleep from the multiple seizures that disturbed Jack every single night not only in his sleep but during the day as well.  This all occurred around the year 2007.  It was also in 2007 that we finally had a diagnosis for Jack.  After 6 years of the doctors saying Jack only had medication resistant epilepsy, UNC finally diagnosed him with Dravet Syndrome which is a mutation of the SCN1A gene.  DS can be an inherited gene, but in Jack’s case, this was a spontaneous mutation occurring on its on.  All the symptoms that I read about regarding Dravet were starting to show.

The symptoms of Dravet are as follows, thank you to http://www.dravetfoudation.org for the symptom list:

• Prolonged seizures
• Frequent seizures
• Behavioral and developmental delays
• Movement and balance issues
• Orthopedic conditions
• Delayed language and speech issues
• Growth and nutrition issues
• Sleeping difficulties
• Chronic infections
• Sensory integration disorders
• Disruptions of the autonomic nervous system (which regulates things such as body temperature and sweating).  Current treatment options are limited, and the constant care required for someone suffering from Dravet syndrome can severely impact the patient’s and the family’s quality of life. Patients with Dravet syndrome face a 15-20% mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections.

For years, I expressed to Jack’s doctors that he would so frequently have seizures in water, whether in a pool or a bath.  He would also have seizures in the heat, at special celebrations, or when he got excited.  These are all classic signs of Dravet.  Testing for Dravet at that time was just starting to become more broad, this was the reason for the delay.  Even though testing is often performed much sooner now, there is still no great form of treatment.

I delayed sending Jack to kindergarten until age 6.  He attended a small, private school that was a great fit for him, only 4 hours of class each day.  Can you imagine how nervous we were as parents sending this child to school 5 days a week?  Our mornings were rough to say the least.  I had three to get ready for school every morning alone while dealing with seizures & an utterly ridiculous amount of hyperactivity from Jack.  Jack’s morning seizures at this time improved after 30 minutes upon awakening, having multiple seizures every morning was the norm.  I would drop Coleman off for second grade at one school, Jack off 10 miles from that school, & then Ava at her preschool 10 miles away.  I frequently stayed in town since Jack’s school was 20 minutes from our house because I was so terrified he would seize at school.  Praise the Lord, Jack never had a seizure at school.  There became a point that I would go back home, I felt more comfortable with the thought of Jack being in very capable hands at his school.  When school dismissed at 12, I would then take Jack nearby to have occupational & speech therapy.  Other therapies I took him to were to an intensive occupational therapy.  The  drive was an hour one way twice a week.  The therapist really focused on developing core muscles.  Lack of muscle tone, especially core strength is a major problem for DS patients as well as balance issues.  Looking for any way to help lessen the seizures, I also drove Jack several times a week to have neurofeedback.  This service cost $100 EACH time!  Neurofeedback is thought to retrain the brain.  It did not help at all, this is what you call desperation to help your child.  I tried all sorts of supplements also to no avail.  If there was something out there, we tried it.

Imagine having an active, walking, talking child that could not participate in any activities.  Well, this was Jack.  Any sport we tried him in caused seizures.  The running, jumping, the excitement of it all brought him down-literally.  Even taking a bath & swimming was dangerous.  There was/is was no warning to his seizures.  The grand mals (that’s the big ones) would make him fall completely over head first.  We were always taking precautions.  During his prime seizure time 7am-8am & 7pm-9pm, we would always try to make sure he was sitting down.  Having to reason with a mentally disabled child was difficult to say the least.  The computer, video games, & television became our best friend.  I did learn about a wonderful, semi-local program that Jack could participate in through a local university-therapeutic horseback riding.  The folks there were great.  They worked with Jack while he rode in skills he was deficient in like word pronunciation & math skills.  The horseback riding, computer, & television were literally all Jack could do.  Attending VBS, birthday parties for friends, even parties for us boring, old adults were too much.

Since I was running myself to death trying to get Jack to his private school, speech, & the other therapies, I decided to bite the bullet & enroll him in a public school a mile from our home.  Jack became a Mineral Springs Bear in the second grade.  The big difference here was the class size was huge for him-30 kids compared to 10 kids, but he was able to receive speech & occupational therapy on site & I was around the corner in case anything went wrong at school.  I was also able to contribute to our business The Berry Patch for the first time in years.  After getting all the kids off to school, I went to work & it felt great.  Although Ava got out of her preschool program at 11:30, I was still able to go in for a few hours & do some much needed attending to.

During the ages of 8-9, Jack started going through puberty.  This is when his personality starting changing.  Not only was he dealing with severe, frequent seizures, but this was when the deficits really started to show.  A terrible speech impediment, balance issues, learning difficulties, horrible acid reflux, violence, the inability to awaken Jack for school, stubbornness, being hard-headed-all the things you would deal with with teenage mood swings but at the age of 8.  There was also the extreme hyperactivity that medication did not touch.  When Jack woke up in the mornings, he was awful!  This was something that I had to deal with each & every morning alone while trying to get two other kids prepared for school.  He would do things unimaginable.  I remember having these walking sticks like ski poles, he grabbed them one morning & started hitting everything in the house with the sticks.  Broke several items that morning, one being a crystal chandelier in the dining room.  This is when I coined the term “bull in a china shop” for Jack.

As we tried to rebuild all that was lost in our financial deterioration, Jack was finally able to get Medicaid. at the age of 9.  It was in 2010 that an auction on a home was going on just two houses from our rental.  Lee decided to walk up & try to buy it.  He did!  We were so thrilled.  The house that was purchased at the auction is the house we live in now.  Although a house built in the early 1920’s that needed lots of work, we knew we could make it beautiful.  Our farm market/ice cream shop business was gaining strength & we were no long swamped with medical bills.

The above scenario with Jack’s medical condition continued to play out.  We even made it on a family vacation for the first time ever with all five us plus my parents for 5 days at Disney World.  This was one of the most memorable times ever.  Coleman became involved in an extra curricular activity-goat showing & Ava began participating in local sports.  Our family seemed to be doing well on the outside, but on the inside we were all reeling.  Jack was starting to show violence towards me mainly.  I was/am the main caregiver which often means the main caregiver is the target of anger.  I have had Nintendos, pencils, fists, & more thrown at my head on more than one occasion.  Going through the surge of puberty hormones, Dravet Syndrome alone, & not having the reasoning skills to understand his limitations, & all that was going on did not help with the case of violence.  Soon visits with the psychiatric department followed & medications were tried.

The thing about Dravet, no one medication does the trick for all.  What works for one may only work for a few DS patients.  It is a very complicated, complex illness.  When Jack started to become violent, we reduced triggers.  These triggers were making one transition from the other, being rushed, & crowds.  We absolutely tried every medication that was recommended under the sun.  Nothing seemed to help and/or made matters worse.  Our lives seemed to be ruined as we considered placing Jack in a home.  Can you imagine the thoughts of sending your medically fragile child that you have cared for for years to a medical facility to spend the rest of his life?  This was not something I could fathom but did consider.  It would be different maybe if he just had behavior issues, but this was far more.  Having a multitude of medical conditions, I felt like mama’s care was best.  So we limited Jack’s exposure to our other children in order to keep them safe.  There used to be a bond between the three-days playing in the sandbox together, afternoon picnics at the park, bike rides through town.  It all came to a screeching halt when these behaviors exhibited.

What a mentally exhausting blog for me to write.  There is so much more about this time frame I could post about, but you get the gist.  I always thought my son would have just epilepsy…

Author: dravetsyndromeblog

44 year old Mama of three kids, wife of a farmer, & business owner. View all posts by dravetsyndromeblog