Evan’s Story

No parent is ever prepared for their child to be diagnosed with one neurological condition, much less several…

At 15 months, our son Evan was a typical child. He was happy, and seemed to be developing just like his twin brother, Henry. Suddenly, that all changed. Evan began to lose the words and sounds he had learned, and began moving his mouth open and shut with nothing coming out.
Over the next year and half, Evan was diagnosed with verbal apraxia, hypotonia, sensory integration dysfunction, and fine motor delays. He made tremendous progress with intensive speech and occupational therapy, but something was still not right—Evan had trouble with social interactions, limited interest in toys, poor eye contact, obsessive-compulsive tendencies, and didn’t appear to understand non-verbal gestures. He was diagnosed with PDD (pervasive-developmental disorder), a developmental delay on the autism spectrum. We were devastated, but held out hope that his excellent cognitive skills and early intervention would allow him to live a fairly normal life.

With intensive therapy, Evan made progress. At four, we enrolled him in a typical pre-school with Henry. However, one day before school, Evan vomited and hunched over in his chair at the kitchen table. I assumed he had a stomach virus, but soon realized something else was going on. He was pale, unable to talk, and just seemed to stare right through me. After fifteen minutes, he seemed fine, so I brushed it off, hoping it was an isolated incident.
One week later, the twins were playing and laughing together when they abruptly lapsed into silence. I found Henry watching TV, and Evan asleep on the couch. He was breathing but unresponsive. The paramedics suspected he had had a seizure and was ‘post-ictal’ (a state of altered consciousness after a seizure). When an EEG confirmed this was true, the doctor put him on medication immediately.

I admit we were in denial. How could he have epilepsy when none of us had ever witnessed a seizure? We remained optimistic—he had grappled with other diagnoses before and always managed to exceed expectations. However, when we found Evan atop our seven-foot high swing-set in the midst of a 45-minute seizure, the reality of his diagnosis set in. Evan was lying on the swing-set platform, all extremities shaking. Seeing that one seizure taught us to hate yet respect the power of this disorder.

We began a long, painful process of finding a medication to control Evan’s seizures. With the first two drugs, he continued to have frequent seizures, putting his brain and life at constant risk. The medications had terrible side effects—he slept all the time, bruised easily, lost self-confidence, and most importantly, lost much of the progress he had made in speech and occupational therapy. His pre-school was now uncomfortable having him in the classroom, and babysitters and family members were nervous watching him alone.
After months, we finally found a medication that worked. Side effects were mild, and hope crept back into our lives. He began to make progress in therapy again. After living with the uncertainty, fear, and pain of Evan’s seizures, we felt liberated and began to recapture what our lives were like before seizures.

Unfortunately, this “honeymoon” was short-lived. Five months later, we started to notice odd behaviors—Evan would suddenly stop short, become very pale and unable to talk, and at times move his mouth in an odd way. These incidents became more frequent, each lasting longer than the one before. When doctors diagnosed “atypical absence seizures,” we also learned that Evan’s brain was seizing during much of his sleep, contributing to the deterioration we were witnessing.

New medications made Evan agitated, angry, and emotionally unstable. He made repetitive noises and movements. He became violent with his siblings, parents, and therapists. We had to take him out of school and stop therapy.

Worst of all, his seizures continued. Suffering his worst seizure ever, Evan stopped breathing and turned blue. Afterwards, his seizures began to come in clusters, and we dramatically changed medications in a desperate attempt to stop the seizures. Some days he was lucid in between the seizures, but there were often days he was barely conscious. At one point, his EEG showed over 50 absence seizures every hour.

Eventually, the new medications did succeed in stopping Evan’s seizures. While miraculously, Evan’s cognitive functions remained intact, the damage from the seizures and the side effects of his medications were still causing problems. He was frequently nauseous and dizzy and slept constantly. His hands shook,which made doing schoolwork very challenging. He was emotionally and psychologically fragile, and had trouble keeping up with his peers not only in school, but on the playground, on playdates, and in sports. After celebrating a year without seizures, we decided to try a new combination of medications with less side effects.

Evan is now 9 years old and has been seizure free for three years. He successfully tolerated the medication change, and has thrived at school both academically and socially. While school can often be challenging and Evan needs a variety of support services, we are thankful for his progress. We are hopeful that he will outgrow his epilepsy, but recognize that his seizures could also return at any time.

 

Stacy’s Story

For the rest of our lives, we will never forget February 2, 1999. It’s a day that forever changed our lives.

While getting ready for work that morning, we heard Stacy cry out. We went to her crib and found her limp and moaning. Thinking she was getting sick, we gave her Tylenol and put her back to bed. Hours later, we began to learn what was really happening. About noon that day at work, we received a call that Stacy was being rushed to the emergency room. The paramedics said she was having a seizure. By the time we arrived at the ER, Stacy was on a breathing machine and fighting for her life. This seizure (her 2nd of the day, we now realize) lasted 45 minutes. Stacy was 7 months old.

For the next 4 days, we didn’t leave Stacy’s side. We finally left her for an hour to go buy a baby video monitor so we could hear and see her at night. When we arrived home, we were confused. A neighbor was sitting in the house with our other daughter, Cameron, and Stacy was gone. We were absolutely stunned to learn that Stacy had had another seizure and was again rushed to the ER. We will always remember running into the ER and crying like we’ve never cried before. It was another long seizure, again, 45 minutes.

Unless you’ve lived it, it’s very hard to explain how long one minute, let alone 45, feels while you stand there surrounded by doctors and nurses, watching your child seize. Later that night, Stacy started the first of many, many epilepsy medicines.

Looking back today, we’re not sure we could ever have imagined the next 11 years and the difficult road Stacy has had to endure. Thank goodness we didn’t know then what we know now.
Since February of 1999, Stacy has had over a thousand seizures, sometimes over a hundred in a day. We’ve tried over a dozen medications, two surgeries, a special diet, a PET scan, numerous MRIs, CAT scans, and extended around-the-clock EEGs. Each time, we looked for relief, seeking some kind of answer. It was so incredibly frustrating to hear, time after time, the top doctors in their field tell us Stacy’s tests were “normal”.

Seeking some kind of help for her devastating seizures, we’ve tried dozens of medications. Unfortunately, most of them created new and different seizures or unlivable side effects.
Throughout her young life, Stacy has experienced many types of seizures. She has grand mal seizures, where her entire body shakes. She’s had partial complex seizures affecting only part of her body sometimes progressing to her entire body. She’s had absence seizures where she simply stares into space or her eyes roll to one side. She’s had myclonic jerks where her body jerks quickly and abruptly for 1-2 seconds. And no matter how many or what kind we see her experience, each one saddens us. Ask any parent, you never get used to watching your child experience a seizure.

Today, Stacy still suffers at least one seizure a week. It’s typically a grand mal seizure (at night, while sleeping) that lasts about 1 minute.

The thousands of seizures she’s endured have had a lasting effect on Stacy’s brain. Stacy is twelve years old; developmentally she is equivalent to a three year old. What’s most significant is her cognitive development has almost stagnated since she was three. New skills come at a painstakenly slow pace. She can’t read or write. She doesn’t know her colors. She needs assistance with most daily life skills. As difficult as it is to watch the physical symptoms of her seizures, by far, the biggest impact has been the permanent damage to her brain.

In August of 2007, Stacy was diagnosed with Dravet Syndrome, a progressive epilepsy syndrome defined by severe and uncontrolled seizures, significant development delay, progressive development issues and generally a shorter life span. Because no medications in the US have helped Stacy, we are now trying medicines from France and Canada, searching for answers.

If and when you meet Stacy, you’d never know the struggles she’s endured. She is the most happy-go-lucky child. Her beautiful blue eyes and her wonderful, infectious smile will melt your heart. She loves to play ball (though she struggles to catch it), watch her favorite Brio train go round and round the track, be pushed as high as possible on the swing, and simply hold your hand and go for a walk.

Because Stacy has shown us so much strength and endurance it has made us push for better solutions for all children with epilepsy. We hope and pray that one day, no child will ever need to endure what our little girl has had and will continue to endure. It is her example that has set our determination. We will never give up. And our work will not be done until we have helped find a cure for epilepsy!

Written by Bob and Kathy, Stacy’s parents.