I was alone in the car on a hot May day. My daughter, Austen, who had just turned 1 and was baptized the previous day, slept in her car seat while my husband ran into the store.
Then the phone rang.
“Her test results came back today, Mrs. Cheney,” the neurologist said on the other end of the line. “Your gut instinct was right, Austen does have the SCN1A mutation, and based on her seizure history, I am confident in diagnosing her with Dravet syndrome.”
I’m not sure if those were the neurologist’s exact words, but that was the gist of it. That’s all I processed at least.
It’s a call you never want to get, although relief flooded my body at that moment as much as fear did. We wouldn’t become one of the 50% of global cases in which the cause of seizures is unknown. We had a name to associate with the monster that was ravaging my daughter’s body: Dravet syndrome.
Although I had suspected for months that Austen had Dravet syndrome, I hoped I was wrong. Austen hit every marker except one on the symptoms list, and I thought that perhaps the missing symptom would be her saving grace.
I can’t tell you how many thoughts flashed through my head after I received the news. No one talks about the smaller consequences of a disease during the diagnosing process, only the larger ones. Austen’s life flashed before my eyes, a life she hadn’t had the chance to live yet. Would she be able to live it all? Would she be able to go to school? Get married? Have children of her own someday? Would she be able to live on her own? Would she even live to see her second birthday?
“I’m so sorry to be the one to tell you this,” the voice on the other end of the line said, snapping me out of my thoughts and sending my world crashing down around me.
I think I whispered a thank-you, and I know I started to cry. The doctor ended the call with a voice that indicated he cared, but even he didn’t know the right words to say in such a situation. No one does, and I’m grateful he didn’t even try.
“The Call” is not the worst call you can get. It doesn’t inform you that a loved one has passed away. It isn’t asking you to remove your child from life support. But it is a call that might one day lead to such calls, and that’s a hard pill to swallow.
We drove home that day to tell our families the news. There were lots of hugs and tears. Eventually, there also was reconciliation with what might lie ahead.
Four years have passed since that call came in. These years have been spent learning and fighting together as a family. We’ve had many hospital stays and countless therapy appointments. Austen has been intubated several times, and had so many intraosseous infusions — in which a line is injected directly into the bone because a vein cannot be used — that we’ll have to get a PICC line if an IV fails one more time.
But we still have Austen. And she is still the daughter we know and love. She might not be the Austen I imagined she would grow up to be, and that’s OK. She is so much more than Dravet syndrome wanted me to believe she could be. She’s a 5-year-old who loves to sing, dance, draw, and play. She can climb anything known to man and has an uncanny ability to memorize anything in a YouTube video.
The best part is that Austen just marked 83 days without a seizure, the longest she’s gone since she was 5 months old. And Fintepla (fenfluramine), the trial drug she was on, is now officially approved by the U.S. Food and Drug Administration, so it can help even more children like her.
Austen hasn’t had a status seizure — a dangerously long seizure or several short ones close together — in over a year, but I still worry. You never know when the next seizure will come, or whether it will be the one that changes your child’s life forever or even takes it away.
If I think about it, I can still feel the same anxiety and anguish I had in my car on that hot May day in 2016. I can still feel the panic rising up in my throat, threatening to suck every ounce of breath from my lungs.
That call was not the end of my life or Austen’s. It was the beginning of a journey we are still on today.
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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