From Healthy to Dravet

2017 was one of the best years of my life. My husband came back from a deployment just in time for our son's 2nd birthday. We moved from South Carolina to Texas and in the midst of it all found out I was pregnant with our second son.

No early signs of Dravet

In November of 2017, we welcomed Will into the world at 1:44 a.m. He passed all of his newborn screenings, breastfed like a pro, and was such a calm, content baby.

2018 started with the same positive outlook. Our first son, Ben, started preschool, and Will was thriving. By 9 weeks old, he was already rolling from belly to back. He was in high percentiles for his height and weight. He was perfect.

His first seizure

On February 22nd, 2018, our lives changed forever, even if we didn't fully realize at the time just how much. During a diaper change, Will screamed in terror like he had been seriously hurt. In that same moment, his left leg started repeatedly twitching. We had no idea what was going on.

I remember asking my husband, "Do we call 911? Is this a seizure?" After that initial scream, he was acting fine mentally. He was making eye contact, smiling at us, but his leg continued that twitch. We ended up calling 911 and he was treated in the emergency room for a 50-minute seizure.

Was it BRUE or seizures?

However, his presentation was so abnormal for a typical febrile seizure often seen in babies that when neurology saw us, they said they didn't think it was a seizure at all but something called BRUE (brief resolved unexplained event) and we still had our healthy baby. We were discharged and sent home, still nervous but ultimately relieved.

In the following 4 weeks, he would have 2 more seizures – obvious ones those times, lasting over an hour each and requiring intubation. We were devastated and so confused. We were just given a healthy baby 3 months ago, and had just been released from neurology 4 weeks ago. What was going on?

MRI and genetic testing

We decided to do a sedated MRI and, during that time, they drew blood for genetic testing.

The neurologist came to see me and assured me that, while Will definitely had some form of epilepsy, there was still a huge possibility it would be a type he would outgrow and would still have a chance at a typical life. I clung to that hope in the weeks we waited for those results.

Dravet syndrome diagnosis

The day Will turned 6 months old, his half-birthday, we had an appointment with neurology to finally discuss his results. We had seen this doctor a few times by now for Will's quickly increasing seizures and were getting to know him pretty well.

He shut the door while I sat with my husband who held a sweet, babbling, content Will in his lap. The doctor began the conversation with, "I'm sorry," and that was the first time I heard the words "Dravet syndrome."

What is Dravet syndrome?

The rest of the conversation was a blur. To this day, my husband and I remember very little of that appointment, except that the doctor was telling us all these things that would eventually happen with my sweet little baby in front of us. It was unfathomable, someone else's results.

On the ride home, we both sat silently crying, shocked and unable to process anything that had happened. We were 14 hours from family and alone. I went home and Googled Dravet syndrome and slowly realized my dreams I had just hours ago for Will's life had been shattered by this diagnosis. One of the first adjectives describing Dravet was "catastrophic."

The years beyond diagnosis

Will is now 6 years old and this both feels like a lifetime ago and yesterday. His seizures continue to change with seizure activity every single day, and he is around 18 months old developmentally.

However, he is the sweetest, strongest, most courageous little boy now known as Warrior Will. Everyone who meets him falls in love with him. Every small milestone is huge in our house. We take things one day at a time. Because on this journey, if we have learned one thing about Dravet, it's that the only consistent thing is the inconsistency.