Dravet Syndrome and Lennox-Gastaut Syndrome: Perspectives from the Patient Journey - Episode 13
Kelly Knupp, MD, shares her perspective of a provider journey of a new patient with LGS and goal setting to manage the disease.
Joseph E. Sullivan, MD: This is a journey and journeys have a beginning, Kelly these patients are coming to you with few seizures the diagnosis wasn’t suspected but then it declared itself like you have LGS [Lennox Gastaut Syndrome]. I am wondering Kelly, the availability of the internet, Lennox Gastaut Syndrome Foundation, easy access for our families where they can go. We know they hear all this, but that’s a lot to unpack in the first few clinic visits where we still do want to focus on the seizures and medications, but not ignore all these incredibly important things that we know are going to come up and we know we’re going to be talking about. There is only so much time during those first few visits. I am wondering – now the provider journey of the new patient with LGS. How do you start with that?
Kelly Knupp, MD: As an epileptologist, I don’t see new-onset seizures often. My experience is often somebody who had recent onset seizures, things aren’t going as expected, and one of my colleagues has referred them over to us. That first visit is often trying to provide some education, understand what’s going on and set reasonable expectations which is part of our job to be able to move forward. That first visit is usually assessing how many medications have been tried and having that conversation that if you have failed 2 or more medications the likelihood of more medicine making you seizure free is low. We must start thinking about what are all the treatment options that can happen. Tracy, you talked about the time that your daughter was diagnosed, and the truth is up until 2000 when we had that first publication that clarified that once you failed your first 2 to 3 medications the likelihood of being seizure free was low. That wasn’t our expectation. We thought we will just keep trying medications and we will eventually find something that works for you and that has changed our conversation. It’s hard for families to hear that but I it sets the framework for us to do reasonable goal setting so that we can say you’ve reached the point where it’s unlikely a medicine will make you seizure free. It doesn’t mean that we are not going to try, and we have lots of options to look at to get there but let’s talk about reasonable goals for the next couple of months. Maybe that’s finding a good balance between medications and adverse effects rather than pushing medicines that and make somebody so sedated that their quality of life is poor. We are also discussing what is your current development and in the setting of seizures setting some expectations that we know with ongoing seizures that we are going to see a decline in memory and learning. And what can we put in place to counteract that because I have just told you that I don’t think I can make you seizure free with medications. Do you have all the therapies that you need, maybe you’re not quite at the point where you qualify for therapies but we anticipate this need in the future, so let’s start to get those things in place so that we are giving you as much support as possible? How can we support your family, what’s stressful, are you sleeping at night, what are all these other supports that we can talk about and has anybody tried to figure out what the etiology is, that initial MRI was normal, your child’s development was initially normally, has anybody done genetic testing yet, there are lots of avenues that we need to start moving on so that we can prepare for what we expect in the future. We now have more knowledge to know what to expect when somebody has failed those first couple of medications. If we are starting to see cognitive changes in the setting of ongoing seizures, to me that’s a red flag that we need to get EEG not just to look for Lennox Gastaut, I need to make sure you are not having subclinical seizures during sleep that are impacting your learning. I need to make sure you don’t have electrographic status during sleep because I am going to treat your differently, as soon as we start to see that change in cognition with ongoing seizures that should be a red flag to everybody that they need to recheck that EEG because there are things that we can potentially manage differently that we may not obtain from history, so we need to continue to relook at that. Are you a surgical patient, do we know what these seizures look like, do we have the best understanding of electrographically what they look like, so there are lots of reasons to do more investigation. I do try to talk about SUDEP at that first visit as well because I am never sure if anybody has talked about it already. I know that families are going to come across it on the internet. We also talk about are you safe when you’re walking, how can we get your child into school, what is the family doing for respite? This is exhausting to have these unpredictable seizures. That’s one of the most horrible things about seizures, they are unpredictable. If you knew you are going to have a seizure every night at 8 o’clock you would plan your life around it and it wouldn’t be so intrusive but the fact that you don’t know if this going to happen when you’re at your brother’s wedding or at the grocery store or in my office where there is a really hard floor is can be challenging. Trying to assess all those other things in addition to talking about treatment options and where we can go next and starting to think outside the box a little bit about if medicines aren’t going to work. Are there other treatment options we need to look at that may work better for your child whether that’s a dietary therapy, vagus nerve stimulator, epilepsy surgery, or maybe an atypical seizure medication, something like calcium channel blocker once you’ve tried enough other medications would be reasonable to think about in that setting. Those are many of the things that we try to discuss. Obviously, we can’t discuss all of those things in that first visit unless we have a really long time to do it but that’s the list in my head for what can I get to you in this visit and what do I need to make sure I revisit the next time I see you.
Joseph E. Sullivan, MD: Yes, I heard a lot there. Getting back to Tracy when you have the bobcat sitting behind you, you don’t say it’s a kitty cat, so own it, own the diagnosis, don’t tiptoe around it. If all the features are there, have an open transparent conversation that your child has LGS and this is how we are going to approach it based on these first seizures types that presenting and here is what we need to also be thinking about. And again, we can’t cover it all but these other needs, I can’t list off all the seven ones that you mentioned there Tracy but the peering, pooping, eating, certainly sleep are key. And just I think maybe just putting under the umbrella of safety and happiness, quality of life, so how can we reduce seizures in a way that is well tolerated that is safe but that allows these children that become adults their best potential to thrive.
Transcript Edited for Clarity