Episode 10: Genetic Epilepsy Clinics
What should you expect when you attend a genetic epilepsy clinic? What happens when you need to transition from paediatric to adult care? To help answer these questions we talk to Dr Scott Perry, Medical Director, Genetic Epilepsy Clinic, Cook Children’s Hospital.
Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.
Dr. Scott Perry is Medical Director, Neurology; Co-Director, Jane and John Justin Neurosciences Center; Medical Director, Genetic Epilepsy Clinic at Cook Children’s Hospital. Dr Perry created the Genetic Epilepsy Clinic at Cook Children’s to improve the diagnosis, understanding, and treatment of children with these rare conditions. In 2019, Dr Perry also established an adult genetic epilepsy clinic.
Dr Perry serves on a number of local, national, and international committees dedicated to improving the care of childhood onset epilepsy.
You can follow Dr Perry on Twitter: @TheNotoriousEEG
Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.
Intro: Welcome to SCN2A Insights bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.
Kris Pierce: Hi! My name is Kris Pierce.
David Cunnington: And I’m David Cunnington.
Kris Pierce: Welcome to this episode of SCN2A Insights where we interview Dr. Scott Perry. Scott is a Medical Director of Neurology, Co-Director of Jane and John Justin Neurosciences Center, and Medical Director of the Genetic Epilepsy Clinic at Cook Children’s Hospital.
David Cunnington: We wanted to interview Dr. Perry as he has been involved with starting an Adult Genetic Epilepsy Clinic to transition his pediatric patients into adult care. Dr. Perry is actively engaged with the genetic epilepsy community as well as being active on social media. And I encourage you to follow him on Twitter @TheNotoriousEEG.
Thanks very much for joining us on the podcast.
Dr. Scott Perry: Thank you.
Dr. David Cunnington: Now, as an epileptologist at Cook Children’s, what’s your usual day or week look like?
Dr. Scott Perry: Oh, every day is a little bit different for me. But my average week is one spent in the clinic. Generally, I start bright and early here around 7:30 in the morning. I see patients throughout the day until the early afternoon. I see a variety of types of patients. So the majority of my clinic is around epilepsy and typically more medically intractable epilepsies and rare genetic epilepsies.
If I’m not in the clinic, I spend usually a week or two per month in our Epilepsy Monitoring Unit in the hospital rounding on patients there as well. And then I have a few days’ worth of research scattered in there.
Dr. David Cunnington: It’s nice to have that mix with both that clinical work as well as some research.
Dr. Scott Perry: Absolutely. It breaks it up.
Dr. David Cunnington: Yeah. As we understand, genetic epilepsies are going to be more commonly recognized. There’s going to be a greater need for genetic epilepsy services. How is your clinical service structured?
Dr. Scott Perry: So I started our Genetic Epilepsy Clinic here. It has now been about three years I guess. And the way the clinic works is we take referrals for patients who have known genetic epilepsy. So they’ve got a history and genetic testing that supports a known diagnosis. But we also see people who have had testing done and maybe have gotten results of some unknown significance which is very common and we try to help them figure out if the mutations and abnormalities found on the testing are truly the cause of their epilepsy or not.
And then we also see patients who have a story that seems like it could very well be consistent with a genetic epileptic encephalopathy but maybe their testing is negative so that we can look at what testing has been done and try to make sure they’ve gotten all the testing that is necessary and there is not – maybe an abnormality was missed because the wrong test was ordered.
My clinic is myself as the epileptologist and I also do a clinic with a geneticist who helps with that side of the equation. We also have a clinic coordinator who makes the arrangements as far as the initial visit, gets all the records together for us to review. We will review those records prior to the appointment to make sure the patient is seemed appropriate and to make sure if there’s any missing information that we want them to get records for us. They can get that done.
Dr. David Cunnington: And when someone is seen in your service, do you maintain their care, or would you then send them back to license in their community for ongoing care?
Dr. Scott Perry: If through our work-up, they have – we’ve got a definite epileptic encephalopathy of a genetic cause, we will continue to follow them. I will continue to follow them. They don’t necessarily see the geneticist going forward but they continue to see me as their epileptologist and then I will refer them as necessary to another subspecialist if they need other things like a GI or pulmonary, et cetera within our system.
There are some patients that if we have kind of completed the work-up, we’ve not found any clear genetic cause that I may send them back to their epileptologist if they don’t necessarily need my services at that point. And then I do some patients who come from considerable distances just for an opinion and because it’s such a distance to travel, those people may return to their referring neurologist and I’ll just work with that neurologist at a distance and then they come to visit as they need to.
Dr. David Cunnington: And you’ve been running your clinic for three years now. What have you learned along the way? So what tips could you give clinicians who are maybe trying to set up a genetic epilepsy service?
Dr. Scott Perry: What I have learned along the way is that every day something is new. That was one of the big reasons for setting up the Genetic Epilepsy Clinic because with the rate at which our understanding of epilepsy and the genetic causes is changing, I mean basically every day you get a new journal with new descriptions, new genes. It’s really difficult to keep up with.
And so, we started the clinic because we thought having one point person who had an interest in it and who wants to stay up on the literature would probably be the best way to get the best outcomes. And so I think that’s my advice to anybody thinking about starting it is you’ve got to stay up on it. You need to be involved as best as you can with the parent organizations because the advocacy organization for these disorders is some of the best places for resources and information because they stay up on all the research, new trials, new drugs, et cetera. And so you have – kind of have to work as a team with them to get the best treatment outcomes.
Dr. David Cunnington: You’ve also set up an Adult Genetic Epilepsy Clinic. What was your impetus for doing that?
Dr. Scott Perry: Yeah, the impetus for that is that I didn’t have anybody who could take care of my patients when they became adults. What has been great to see over the years of taking care of epilepsy and specifically, the genetic epilepsies is how much the outcomes have changed. I mean we were getting better treatments for these disorders. We are diagnosing them much earlier in life. And as a result, you’ve got better outcomes not only from a seizure standpoint but from a cognitive and developmental standpoint.
And so, what were very severe disorders in the past where these children may not live to be adults, they are adults now. But the difference is, is that the change and the movement towards the kind of genetic testing to make diagnoses has really been focused in the pediatric world. And as a result, adult providers really haven’t had an opportunity to either see patients with these disorders or know that they are seeing patients with these disorders because they are not doing the genetic testing. And so as a result, you got kind of a knowledge gap there.
And so when I first started to try to find people to send my patients to, I couldn’t find providers that I thought were knowledgeable enough about the disorders to continue giving the same level of care that they were receiving here in my institution. And so we ultimately decided the best approach was to really hire our own adult epileptologist and basically work with them in a clinic and essentially train them to become comfortable with these disorders over time so that they could then take the patients going forward.
Dr. David Cunnington: Yeah, not only the clinical care that’s missing. Part of what’s missing is understanding what do adults with genetic epilepsy actually look like.
Dr. Scott Perry: Exactly.
Dr. David Cunnington: There are these natural history studies beginning only in the pediatric space, let alone even mapping out what someone looks like at the age of 25 or 30 or 50.
Dr. Scott Perry: Absolutely. Yeah.
Dr. David Cunnington: So that’s something that we will learn over time.
Dr. Scott Perry: Yeah. I mean because there can be things – just like there are certain comorbid conditions that are unique to the different genetic epilepsies in childhood, there are maybe particular comorbidities that are unique in – at an adult age as well. And so understanding what those are so that you can have anticipatory guidance and be looking for those things and then know how to address them when they happen is very important.
And it’s not that there aren’t adults with these disorders. It’s that there are adults that don’t know they have these disorders. There’s a recent study that looked at the gene panels in adults and found that – they found a genetic reason for epilepsy in these adults in about 25% to a third of the patients, which is very similar to the pediatric world. So the adults are out there. They just don’t know they have the disorders.
Dr. David Cunnington: Right. And the clinical picture might look different from the pediatric picture so it’s not as easy to recognize necessarily.
Dr. Scott Perry: Exactly. And as an adult provider, I mean I’m at an advantage as a pediatric provider because when I see a patient, I don’t have 30, 40 years’ worth of history to acquire and so I can usually get the story from birth to the present and really see that pattern that might suggest that you have, for instance, Dravet syndrome, right?
But as an adult provider, that often can get lost because once you had 35, 40 years’ worth of intractable epilepsy, thinking out the fine details of the story to say, “Man, this sounds like it might be a genetic epilepsy,” is much more difficult to do.
Dr. David Cunnington: And what have you learned since you’ve started your Adult Genetic Epilepsy Clinic?
Dr. Scott Perry: I think what I’ve learned most is that there’s going to be more to this than just teaching my adult colleague the ins and outs of these disorders. And what I mean by that is it has become evident that it’s not just about pairing the adult epileptologist to care for it but it’s preparing the entire adult system to take of these patients.
Just some examples of – recently, we’ve seen a few adults that we needed to get video-EEG monitoring on to kind of characterize their current seizures. And the hospital is just simply not prepared to take care of a person with basically intellectual disabilities, cognitive disabilities that may not handle getting the EEG done very well.
Here in the pediatric hospital, we’ve got child life, we’ve got things to occupy the patient so that we can get the EEG done without creating too much of a fuss. But in the adult world, they are used to just putting the EEG on and doing the study. So they are not prepared to deal with this special coagulation. So those are kinds of things we’ve been working on is kind of getting them ready for taking care of these young adults.
Dr. David Cunnington: Again, it’s not specific to genetic epilepsy. I’m an adult physician and work in that space and I realized how little training I had in managing people with an intellectual disability or genetic disorders. And the adult system just is so not set up for that managing that sort of caseload.
Dr. Scott Perry: Exactly. Yeah, it’s a different approach. You need a completely different approach, a certain level of patience, a certain level of ingenuity to figure out how to get things done the best way possible for the patient.
Dr. David Cunnington: Are there things you’ve learned in your adult genetic epilepsy that you’ve then brought back to your pediatric clinics?
Dr. Scott Perry: So, so far honestly, the population is pretty scattered and small for each kind of individual condition. So nothing really has jumped out at me yet that I’ve been able to bring back to the pediatric half of it other than just as I said, kind of the struggles of being an adult with these conditions, not really having all the opportunities that they had in the pediatric world. I mean certainly, some things that I’ve learned from – in the United States from a guardianship perspective, a long-term care perspective in the adults that at least has better informed me to get parents of these children ready to think about these things a little earlier on than probably I had done before.
Dr. David Cunnington: Yeah, that’s a really good point. My son is 17 and we are going through this process of transitioning into adult care. But it all seems to come as a rush. As parents, you’re scrambling because life with a child with genetic epilepsy is pretty easy, and all of a sudden he is 17, and the real guardianship issues when he turns 18 here in Australia and transitioning out of the very comfortable pediatric system that’s designed for collaborative care.
Dr. Scott Perry: Exactly, yeah. And I mean we know from a transition standpoint that around 13 to 14, we need to start talking about this and thinking about it. But it’s a whole another – those recommendations are not exactly built around this population either. So I mean this is a whole another game. You really have to really be thinking about it not just from as you said, the guardianship issues which you do need to think about early but really thinking about where is the care going to come from?
And for many of these disorders, it’s not just neurology. So great if you found a neurologist or an epileptologist but where are you going to get your GI doctor and pulmonologist and your orthopedist? I mean there are so many things we have to think about well ahead of time.
Dr. David Cunnington: If you are thinking about then communicating with those other specialists in the adult world as your patients transition into that world, are there a couple of take-home messages you want to convey to them?
Dr. Scott Perry: The main take-home message is just that they are seeing these patients. So when I first started out, you try to get people interested or willing to see the patients. They are like, “Oh, I don’t think I can handle that, or I don’t see that.” Well, the fact is, you do see it. You just don’t know you see it. I told them, I was like, “We can go about this two different ways. The first way is that I can just send them to you and eventually, you will become comfortable with them because you will have a bunch of them in your clinic, or we could take the route of teaming up together and trying to kind of be prepared for that.
And so that’s what I’ve done for the neurology half. For the other specialists, we are still kind of picking them out as we go and trying to get them involved, really trying to get them involved more in the advocacy groups too. A lot of these groups will have meetings where they kind of discuss the latest stuff and it tends to be pediatric providers. But really trying to identify more adult providers and get them also there to get interested in it and will take that back home.
Dr. David Cunnington: And then just to tease you out with some of your clinical experience, are there particular things parents of a child with genetic epilepsy should be asking of their neurologist?
Dr. Scott Perry: Probably the most important thing of patient or family can ask their neurologist is number one, just how familiar are you with it? I mean how many patients do you have with this particular syndrome? And are you aware of the patient advocacy groups? I mean I can’t really underscore how important the patient advocacy groups to keep a person up-to-date.
And a lot of people because these conditions are so rare, you’re going to have a neurologist or an epileptologist that probably doesn’t have a lot of patients with this disorder. So you just want to make sure you have one that’s at least one, willing to try to check in that advocacy group every now and then and see what’s new, and to listen to what you as the parent, the caregiver, have learned about the condition because often, you are the most knowledgeable about what’s new and exciting in the disorder.
Dr. David Cunnington: That really resonates. So I think particularly in Australia, we have lots of regional cities far from tertiary medical centers and I really tell people, “You want someone who you can work with, who is willing to listen, and go on the journey with you. As long as you got that, then you can work with them.”
Dr. Scott Perry: Yeah, absolutely. I mean because everybody can’t travel across the country to get to a clinic necessarily like mine or frequent appointments. So you always want to have somebody locally I think that is going to be there to help you. But you just want to make sure they are a person that’s truly on the team if you will.
Dr. David Cunnington: And then on the other side, are there things when you’re seeing families of children with genetic epilepsy, that’s maybe a blind spot for them or something that they’ve missed that you find yourself constantly reminding people or pointing out to them.
Dr. Scott Perry: I have to just remind people that pretty much all of these disorders are spectrum disorders. So social media is a very common place. And these support advocacy groups we are talking about is a common place to get information but always keep in mind that these disorders are a spectrum. So what you may see somebody else experiencing is not always necessarily what you are going to experience, because you see a lot of people they read that and they rightfully get quiet down from the beginning.
But I’d like to really suggest they focus the other way. It’s a wide spectrum of presentations. The rate at which the treatments are changing and I suspect, outcomes will in turn change for the more favorable is just – it’s very exciting. And I think that there’s a lot of positivity to be had for these disorders right now in the directions we are going. And so, you just try to – it’s difficult because these are difficult epilepsies but try not to focus just on all the bad pieces and understand there are a lot of good things going on.
Dr. David Cunnington: Right. Thanks very much for all your insights.
Dr. Scott Perry: You bet.
Dr. David Cunnington: So what were your take on message from Scott Perry’s interview?
Kris Pierce: And so, there’s a couple that really resonated with me. The whole interview resonated with me because we have a child who is 17, who has been in the pediatric world and who will soon be transitioning into the adult world, which is very unknown and sort of a bit of a quagmire for us to work out what services are there and what we are going to have to sort of build ourselves. So it’s really interesting to hear from him how he has transitioned his pediatric patients by building an Adult Genetic Epilepsy Clinic and why he did it and how he did it. And it seems like a really good model for others to follow.
One of the other points that Scott made when he was talking about his Pediatric Genetic Epilepsy Clinic, he talked about those who had been diagnosed. And so they came to his clinic with a clear path and the clear way in which he evaluated them before they came to the clinic but then also when they were there and then to follow up whether he did that or other clinicians did it.
The other point that he mentioned was that there were patients that clearly to a neurologist have a genetic background but for some reason, that clear diagnosis is not coming. So they get those patients who present with a genetic epilepsy type presentation and they work with those families to try to either get them a diagnosis or to find them the right help while that diagnosis is still being explored. So yeah, I think that’s really important.
We’ve got at least a handful of families here that are stuck in that no man’s land where neurologists are telling them that they’ve got genetic epilepsy but they are not willing to – well, not willing, but are unable to help that family find a definitive diagnosis, and that’s really, really hard and confusing for families and also difficult for doctors not being able to give families an answer.
Dr. David Cunnington: Yeah, and it is one of the peculiarities of the US system may be different to Australia. People do travel a bit to get opinions in the US or to seek out expertise. It happens a bit in Australia but a bit less so. We will often stick within our particular states and if the expertise isn’t in that state, well, they just sort of plod along, not getting the answers that we are after.
Kris Pierce: Yeah. And there’s some work being done in Australia. We are doing some work in DEEs and genetic epilepsy and trying to work out what the gaps are and what is required for families in terms of care and then hopefully that will evolve into finding better processes not only in our own states but across Australia.
Dr. David Cunnington: And you’ve teased that out as part of that roundtable on genetic epilepsy that you organized and I will interview you about that in an upcoming episode.
Kris Pierce: Fantastic.
Dr. David Cunnington: You can keep up-to-date with the latest in genetic epilepsy and developmental and epileptic encephalopathies by subscribing to this podcast or you can get regular updates on SCN2A through SCN2A Australia’s Facebook or Twitter @SCN2AAustralia. Thanks.
Kris Pierce: Thank you.
Outro: This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding a medical condition.