Patient journey to diagnosis of Dravet syndrome

Joseph E. Sullivan, MD: Mary Anne, I would like to speak to you and make you think about what you were told when your son had his first seizures. Does it create flashbacks for you?

Marie-Anne Meskis: Definitely flashbacks. I would agree with Kelly; I think over the last decade we’ve really seen a shift in the typical journey for patients and parents to get to diagnosis. At the time, my son (who is now 22) was not diagnosed until he was 4 years old. At first we were told it was febrile convulsions. Unfortunately, we still have patients who follow the same diagnostic path; if they are not seen by a medical professional who understands what they should be looking for and who does not order genetic testing, it can unfortunately take many years before symptoms progress and they find the right specialists who can help them get to the diagnosis.

Joseph E. Sullivan, MD: With genetic testing, as little as five or six years ago it took a month to get it, but we were still able to make the diagnosis of Dravet syndrome back then. And Kelly, I’m just curious, when did you start saying, “OK, unfortunately I can’t take genetic tests, but I’m convinced you have Dravet syndrome, and here’s why.” ?

Kelly Knupp, MD: I lived in a place where we were very lucky with early genetic testing for a long time. But for our older patients, given that 4, 5, and 6 year olds who may not have had genetic testing, the history of progression from prolonged febrile seizures to multiple types of seizures, sensitivity to the temperature: I think we had great confidence in that. The area where genetic testing has been really helpful has been with these very early crises. It is sometimes difficult to tell the difference between a simple febrile seizure and a febrile seizure associated with Dravet syndrome, especially if it was not a hemiconvulsive seizure. But if I had seen a patient whose first febrile seizure was a right hemiconvulsive seizure and his second febrile seizure was a left hemiconvulsive seizure, I would have been really convinced that it was Dravet syndrome and that we should proceed as if that were the diagnosis.

I’ve seen a number of teenagers who didn’t even see me in the clinic, and they were being walked down the hall by another provider, and that’s also a very characteristic move. I’ve made the diagnosis a handful of times in this setting as well, where I’ve seen someone walking down the hall, and we’ve been able to untangle the story and make that diagnosis. I think there are some key features that are very unique to Dravet syndrome.

Joseph E. Sullivan, MD: We will dwell on it a little more here. I also have a poignant story from one of my patients. This was at a time when I was following about 25 or 30 Dravet syndrome patients. I brought in a family, there was a newspaper article about a patient of mine who had Dravet syndrome. This patient was 17 years old and I inherited her in this office when I started my job. In the table, it was just written: “refractory epilepsy, cause unknown”. She said, “Why couldn’t you know my daughter had Dravet syndrome”? I said, “She didn’t have these seizures alternating with fever.” And she said, “Yes, she did. The story continues, even as I tell the story, the hair is standing on the back of my neck, because I knew she was right. I didn’t even need the genetics. I said, “You have Dravet syndrome, and I look you in the eye, and I missed it.” I think having this understanding of the different stages of the syndrome and how it evolves over time is certainly helpful for us as we talk to families in terms of what we can perhaps anticipate.

In terms of adults with Dravet syndrome, and it is certainly underdiagnosed. I often think that there are hundreds, if not thousands, of Dravet patients sitting in our very well-meaning, reputable, and brilliant adult epilepsy clinics. They don’t have the luxury of having this story from early childhood. I wonder, Mary Anne, both in your parenting and in your involvement with the Dravet Syndrome Foundation, what stories do you hear about this journey that different families have been on?

Marie-Anne Meskis: With our adults, it’s often the parents who keep pushing for answers. For families, they often come to a point, I don’t mean complacency, but they feel comfortable managing crises or providing the best quality of life possible, and they don’t necessarily think that a diagnosis is important. Sometimes I think doctors feel the same way that if patients are in a much better position than they were before, why are we still looking for an answer?

I agree with you that we have a lot of patients who are either misdiagnosed, maybe with LGS or some other syndrome, or just diagnosed with idiopathic epilepsy. The detriment to our community, of course, is that, for example, since 2018 we have brought to market 3 new treatments for Dravet syndrome. Here is an opportunity that could allow us to improve the quality of life of these patients. I’ve also heard of parents who continued to push for testing, and after finally getting testing and a diagnosis, they may have had a child on contraindicated Dravet Syndrome medication for many years. I think there’s a challenge, and I think we still need to work to educate our adult providers about the importance of getting a diagnosis and making sure they know this test is available and that it’s available. is significantly less expensive than it was in the past, as it has long been a hindrance for our families.

Joseph E. Sullivan, MD: Absolutely. There’s obviously some value in having an accurate and specific diagnosis, not just for treatments, as you said, but just the sense of community, to be able to reach out to other parents who are living with the same daily struggles. I saw so much value in that. I used to have patients sent to me, refractory epilepsy or someone having genetic tests and they thought maybe it was Dravet or Lennox-Gastaut, and they came second. But now, thankfully, thanks to the Behind the Seizure program, and at least the interest in doing early genetic testing, now these patients are being diagnosed earlier and coming to our centers with that diagnosis in hand, so that we can then get through with advise them of the next steps in treatment.

Transcript edited for clarity

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