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Stories  >    Charlie | Dravet Syndrome

"I wish I had pushed for what I felt was needed. We had been actively hurting my child for months."

As told by Kay, mother to Charlie who was eventually diagnosed with Dravet Syndrome. Prior to his diagnosis, Charlie was placed on an anti-seizure regiment that included sodium channel blockers. While common to give these types of medications, sodium channel blockers should NOT be given to children and as a result Charlies had severe side effects. Not having a correct diagnosis can have serious and life-threatening ramifications.

Our Charlie was born in April of 2018 and had a clean bill of health.  Then one morning, before his four-month vaccination appointment, I gave him a quick bath. He seemed to be staring at the faucet head and went still. I was unable to get him to respond. He then went into full convulsions. He was having a tonic-clonic seizure, but it took me a minute to figure out what I saw because I had never seen one before. It lasted for 10 minutes and stopped when the ambulance arrived.    

A CT scan showed a small abnormality at the hospital, so we stayed overnight to have an MRI done. The neurologist said that spot was likely the cause for his seizure and that Charlie may never have another one. We went home. This would be just one of many ambulance rides and hospital stays we would endure over the next year and a half.

Two weeks later, Charlie had his second seizure that lasted about 8 minutes. The next one lasted 30 minutes, and the one after took an entire hour to stop. We would be in the hospital about once a month for the following 14 months with seizures. The doctor put him on an anticonvulsant. With each seizure, we would up the dose and eventually added in other medications as well. I noticed Charlie would have fast jolting episodes I came to believe were Myoclonic seizures. The doctor did not seem concerned. 

When Charlie was ten months old, we had to get rescue meds. We had some success with a nasal rescue medication – but that was difficult to give reliably – so we were also given rectal rescue meds. When the paramedics came, they would administer more meds to try and stop the seizure. Charlie ended up on a ventilator twice in the Pediatric intensive care unit because his breathing got compromised from all the meds.

I begged our neurologist to do genetic testing when Charlie was 12-months old. He refused, saying he believed it was the healed spot in his brain. I wish I had gone for a second opinion then.

When Charlie was about 17 months old, I told the ER doctor that something had to change during another emergency room visit. We needed relief. So, with permission from our neurologist – we started him on a sodium blocker. It is common to use those types of medications to treat seizures.  I was immediately concerned with Charlie’s wobbly walk. He seemed so high. The doctors said it should resolve.

Over the next few months, Charlie began having absence seizures, complex and simple partial seizures, and head drops. He was also throwing up often. We were having over 40 atonic seizures a day, on top of other seizures about once every 5 days. The doctor kept upping the meds. It wasn’t until the nurse practitioner at the neurologist’s office saw the short head drops seizures (also known as atonic seizures) that we finally had the genetic testing done. He had three abnormalities show up, one being on the SCN1A gene that confirmed his diagnosis. He had Dravet Syndrome. Charlie was now almost two years old. 

Children with Dravet Syndrome should NOT use sodium channel blockers. We had been actively hurting my child for months. We began a new treatment regimen, and the atonic seizures went away. Now we have speech therapy services available and other benefits as well. We can hopefully get Medicaid to help with bills if needed.

Even before the pandemic, it felt like Charlie and I were on lockdown to avoid triggers for his seizures.  Triggers include baths (fast temp changes), overheating, excitement, illness (particularly fevers), and insufficient sleep. We stopped taking him out after calling an ambulance three times after going to a store. 

We live this diagnosis day in and day out. My family suffers from PTSD, depression, and anxiety. The terror that comes along with this condition is hard to explain. We live on the edge because the symptoms from Dravet can be so unpredictable. We constantly hope for good days. We hope that if he falls at the start of a seizure, he won’t get hurt, and we hope that we will be able to catch the beginning of an episode. It controls so much of how we function.

I do have regrets. I wish the doctor had done genetic testing earlier. I wish I had pushed for what I felt was needed. I should have known to be loud and persistent, but I failed there. I wish the neurologist would have thought that some of my son's symptoms, like sensitivity to baths, had meant something.

Since his diagnosis, we are now on the correct treatment plan. Charlie has been seizure-free for over two months. This is the longest he has ever gone without an episode, and we have our fingers crossed that this latest treatment is a game-changer for us. 

Charlie will be three this year and is an extremely happy child.

Dravet syndrome, previously called severe myoclonic epilepsy of infancy (SMEI), is an epilepsy syndrome that begins in infancy or early childhood and can include a spectrum of symptoms ranging from mild to severe.

Learn more about Dravet Syndrome

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