Our Dravet syndrome journey is full of unpredictable ups and downs

The last few weeks have been a whirlwind. Austen, my daughter with Dravet syndrome, turned 9 years old. Eleven days later, we observed the eighth anniversary of her Dravet syndrome diagnosis.

I still remember the sensation of falling I experienced during that phone call. I had mixed feelings: joy over finally having an answer to our struggles, and absolute terror over what the future would hold.

We weren’t sure if Austen would ever run, play, read, or do so many other things her older brother and sister had done without question. We didn’t know if we’d ever get to see her personality, likes, and dislikes.

We had no idea if she’d reach a point where seizures weren’t controlling her days and nights. Would her brain and body ever have enough time in between episodes to recuperate and grow?

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With minimal treatment options in our home state of Texas, we moved to Colorado to explore medical cannabis. It worked well for about 18 months. While Austen never achieved full seizure freedom, she’d go weeks or even months without them. We saw a lot of neurological growth during this time. Even when Austen’s seizures started to get worse again, I believe the medical cannabis continued to act as a neuroprotector, because she experienced minimal regression.

But eventually we reached a point where cannabis wasn’t enough. Austen’s seizures were getting worse and worse; she barely had time to recover from one before another would occur. So we changed tactics. We tried Fintepla (fenfluramine), which was still an experimental therapy at the time.

I admit I had little hope that it would work. Besides cannabis, nothing had helped, so why would Fintepla be effective? But it was. Slowly, Austen’s seizures grew further and further apart, until we saw only one in all of 2023.

Beyond seizure freedom, we started to see something else: Austen. Her likes and dislikes began to emerge, and she connected with toys for the first time. She learned to read and write, and eventually was able to participate in most general education classes.

Yet in the back of my mind, small but firmly planted was a seed of worry and doubt. I knew it was possible that things could get bad again — whether it was during puberty or just out of the blue. Dravet was a monster in hiding, waiting for its chance to pounce.

Now that Austen has had two seizures in less than two months, I find myself wondering if that time has come. Is the monster preparing to wreak havoc on our lives yet again?

Holding on to hope amid fear

I recently found myself pouring out these worries to Austen’s neurologist at her biannual appointment. We decided to increase her Fintepla dose again, this time to the maximum allowed for her weight. It’s the ratio that showed the most promising results in studies, so we have hope it’ll work. But what if it doesn’t?

If her seizures continue to get worse, we can either add another medication to her regimen or stop Fintepla entirely and try to get into a clinical trial. To my knowledge, there’s only one available Dravet medication that Austen hasn’t already failed.

The result is that I find myself back in that place of ambivalence: hopeful that this higher dose will work, while practically paralyzed with fear that it won’t.

It’s been almost five years since we started Fintepla. Five years of hope and growth. Five years of really knowing Austen and watching her thrive. I’m not ready for that to end. I’m not even ready for that possibility. I’ve spent many nights lately in tears, obsessing over the “what-ifs” and playing every scenario through in my mind.

It’s like trying to balance on a seesaw, when any small shift could threaten life as we know it. I’m desperately trying to cling to the highs and not let the fear of the lows keep me down.

I’m holding on to hope and trusting that, whatever happens, our family will have our faith and, more importantly, each other. The memories we’ve collected over the past five years will get us through any tough times we may face. We’ll continue to collect memories for as long as we can, creating a time capsule of our lives and love for one another.

Note: Dravet Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Dravet Syndrome News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Dravet syndrome.

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