Dravet Syndrome and Lennox-Gastaut Syndrome: Perspectives from the Patient Journey - Episode 4

Impact of Dravet Syndrome on QoL

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Dr Kelly Knupp, Dr Joseph E. Sullivan, and Mary Anne Meskis comment on the impact of Dravet syndrome on a patient and their caregiver’s quality of life and address education around SUDEP.

Joseph E. Sullivan, MD: Parents have a lot of questions and concerns, and they come to their providers, and many of them have already read about this catastrophic disease and seizures are scary. Kelly, I don't know about you, as a pediatric epilepsy specialist who has seen thousands of seizures, it is not my own kid, but just seeing it on a video, they are never easy to watch. A lot of times I find that the first few visits, it is really just trying to manage that anxiety and reassure families that more likely than not, their child is not going to die during a seizure. But unfortunately, that is a difficult topic that we do have to broach, in terms of someone dying from a seizure, and we and we certainly know that patients with Dravet syndrome do have an increased risk of Sudden Unexpected Death in Epilepsy, so SUDEP. I'm curious, do you bring that up initially, how do you bring that up? I think this has been something that we have been talking about in our community and there is a lot of variability in terms of how each provider does it, but I am curious how you bring it up and then I would like to hear from Mary Anne.

Kelly Knupp, MD: I do try to bring up SUDEP in the first visits. And, in some ways the fact that families come with a diagnosis, and they've already googled things, I use that to bring this up. And so, I will often say, "So, I know you've already looked this up, what questions do you have"? And, if it doesn't come up in that way, then I will often say, "And so, one of the things you probably came across was SUDEP and mortality for this disease," and that's usually how I will bring it up. In the back of my mind, I'm always hesitant to bring it up, and you're right that we have this anxious family, and we want to reassure them, but I think it's important to be honest, and that this is a real risk, and it does appear to be higher in this particular patient population. I think it is also important for families to know that, beyond trying to find the best treatment procedures, there may not be much that we can do about SUDEP, beyond monitoring for seizures. I think that is an important point to talk to families about as well. I do push myself to talk about it at that first visit, and I will often check in at subsequent visits and say, "Hey, do you want to talk about this, again?", just to make sure I have answered their questions, but I presume that everybody has come across it on the internet, so I'm just reaffirming what they have already read, and making sure that I'm providing them accurate information. Also, I let them know that we're going to do everything we can for this, and that, if SUDEP does happen, that it is not their fault, this is a spontaneous event that happens, it's happened in witness situations, in supervised situations, it's happened in the hospital where everybody has been right there to do all the interventions that are available. I don't know if that's a helpful thing for families to feel or not, but I think as a parent, I would want to know that, that this is one thing I can't fix and relieve myself a little bit of that magical thinking of I can fix everything for my child.

Joseph E. Sullivan, MD: And so, Mary Anne, do you want to reflect back on when that was first brought up with you?

Mary Anne Meskis: It was actually brought up at our first meeting with the neurologist, to give him the duration of diagnosis. I was appreciative to have that information, and I would say what we hear in our parents support group is that, even with the understanding that no matter what they do, they might not be able to prevent SUDEP, having that knowledge and at least making changes that could potentially prevent it is really empowering and important for them. They don't want to face the fact that maybe there was something they could have done that could have saved the child. I think it really helps for us to keep that conversation going to talk about what seizure monitor devices are out there, to talk about latest in research and just give families as much information as possible.

Joseph E. Sullivan, MD: I know one big thing that comes up, is sleeping and co-sleeping, and just what impact that has on the quality of life for the parents, the child. Sleep is so important, and I'm wondering, do you mind sharing what your sleep situation was when your son was younger?

Mary Anne Meskis: It has remained since early-on that I co-sleep with him, occasionally my husband will as well, but he prefers to sleep with me. So, I guess I win in that arena.

Joseph E. Sullivan, MD: As much progress is being made with monitors and devices and things that we know, none of them are perfect. I know that we hear, certainly Kelly, I think some of our patients who have died from SUDEP, it also doesn't necessarily happen when they are doing poorly; it can actually be when they are doing well. We certainly see that in their DSF community when they're those horrible posts that are made. It is not always when seizures are really out of control, which I think lends a whole other level of anxiety where you finally get to a spot where, your son or daughter is in this good spot, and then that happens, it is just catastrophic. I think that everything both of you said, in terms of it's not anyone's fault, we are doing our best. There's certainly a lot of research going on right now in terms of trying to understand those mechanisms and maybe some drugs actually could have some more protective effect than others, but it is certainly an area that is not being overlooked and being studied actively.

Transcript Edited for Clarity