At the Forefront Live: Epilepsy Awareness and Research
October 24, 2019
Susan Axelrod, the Founding Chair of CURE, joined neurologists Douglas Nordli, Jr., MD and James Tao, MD, PhD to discuss the advances in epilepsy research and the search for a cure.
Coming up on At the Forefront Live, we'll talk to Susan Axelrod, the founding chair of CURE, and neurologist Dr. Douglas Nordli and Dr. James Tao. We'll also take your questions live, so if you or a loved one is dealing with epilepsy, this is your chance to ask an expert. That's coming up now on At the Forefront Live.
And welcome back to Forefront Live. We want to remind our viewers that we'll be taking your questions for our experts, but please remember that today's program is not designed to take the place of a visit with your physician. First, let's learn a little bit about each one of you. And Susan, we're going to start off with you, if you can tell us a little bit about your background and why you're so interested in epilepsy, in particular.
Well, I have a daughter, who is now 38 years old, who was diagnosed with epilepsy at the age of seven months. So this is back in 1982-- became painfully and immediately aware that she was really going to be one of those people who, as Tim described, was not going to be responsive to medications and treatments.
And over the years, we went through over 20 different drugs, and surgery, and stimulation, and diets, and nothing was controlling her seizures for the first 18 years of her life. And so I recognized, at about 15 years into this journey, that really what I wanted to focus on was increasing research into this disease, finding the answers that just weren't existing for her and for so many others.
A couple of other desperate moms and I founded an organization called CURE with a laser like focus on research and advancing research into figuring out why this disease starts in an otherwise healthy appearing brain, and what we can do to treat it and actually cure it one day.
So you took an incredibly proactive approach. And CURE stands for Citizens United for Research in Epilepsy. As you mentioned, research is critical to do what your foundation is all about. And again, pretty impressive that you did that, and it's had-- I think paid dividends. Dr. Nordli, if we can talk with you a little bit about your role here at Chicago Med-- what you do, and what's your expertise?
Well, thanks. I'm a child neurologist. I'm the director of the child neurology program, and I'm also a pediatric epileptologist, meaning that I focus on caring for children usually with hard-to-control seizure disorders.
Yes. I'm a neurologist specializing in epilepsy. I'm a adult neurologist, providing care for the people above 18 years of age with difficulty to treat epilepsy.
All right, let's just start off kind of with the basics of epilepsy and what it is. And Dr. Nordli or Dr. Tao, I'll throw this one to you, if you can describe to us what is happening within the body, when somebody is suffering through epilepsy.
Well, epilepsy is a condition of the brain. It's not contagious. You can't catch it from someone else. And it's due to some kind of dysfunction or problem with the function of the brain, where all of a sudden, there are abnormal electrical discharges that momentarily take over the function of the brain. And this results in what we observe outwardly as a seizure. So epilepsy is just another word for a predisposition to recurrent seizures.
Dr. Tao, are there different types of epilepsy?
Yes. There's several different type of epilepsy, but in general, epilepsy is defined-- classified into focal onset seizures-- means seizures start from one part of the brain. And the other type of epilepsy is the generalized epilepsy-- means the seizures start from both side of the brain simultaneously.
So Susan, obviously, this is a very personal thing for you. And again, as I mentioned a minute ago, you took a proactive approach but by working to raise funding for research. And can you talk just a little bit about your passion, as far as the research end of things? And what's going on with CURE to further that?
Yeah. What word just focused on is trying to get to an understanding-- a much better understanding of why-- I take my daughter, for an example-- I put her to bed one night-- normal healthy seven-month-old-- and the next day, she's having multiple seizures that were uncontrollable.
And our research program has really been about, can we get a better understanding of what is happening in those brains, and therefore, find-- or thereby, find better treatments that really address whether it's a generalized or a focal seizure? There's so many different causes and types of epilepsy, and it's the brain, so it's super complicated.
And we just do our very best. We've also done some advocacy work in Washington to try to get more attention at the National Institutes of Health, at the Department of Defense. We currently are working with the Department of Defense in a program that can better understand why people with traumatic brain injury-- many of our veterans-- develop well see-- and sometimes-- you know this better than I-- can be years later, years after the insult to the brain.
So what is it that's going on in the brains of people who develop epilepsy? And that's our focus, and that's-- we bring together people. We try to bring basic and clinical researchers together to try to address what sometimes can be a separation between a lab and a clinic, and with patients, to try to better understand both the patient's perspective, what research is going on, what the possibilities and the hope are in that arena.
But also, I think, sometimes our insights into the disease can be instructive to the focus of research. And what we're experiencing at home hopefully is instructive and contributes to what you're focusing on in your work.
You have an event coming up here pretty soon. It's a big event, and it's a fundraiser. Can you tell us a little bit about that?
Yeah. So November 18, we have our Annual Chicago Benefit. We do fundraising around the country as well, but this is a-- this probably contributes about 50% of our research budget for the year. It's going to be a great event at Navy Pier, and I am thrilled and excited about it. But we do it every year, and it's a great community of-- usually about 1,000 people come to Navy Pier and support this cause.
That's fantastic. That's exciting. So Dr. Nordli, if you can, tell us a little bit about-- if you're a parent and this is something that you're-- is impacting your child, there's some basics that parents need to be aware of, and if you can share some of that. What happens, when a child does have a seizure? I would think that would be a moment of sheer panic, as a parent. What would you suggest to parents in that situation?
Yeah, easier said than done. It is a moment of sheer panic. And probably many people that are listening in, I imagine, are listening in because they've similarly witnessed a seizure. And probably, if they go back in their mind and they think, well, what was the first thing I thought, you probably thought that that person was passing away.
And that's, I think, our natural reaction, when we see it. It's dreadful and highly traumatic. So it's easy for us to say, remain calm, in the face of something like that, but things that you might want to do to help someone could inadvertently harm them. So for example, people won't swallow their tongue, so don't put anything in their mouth. Don't try to wedge something inside. It can just create more danger.
Similarly, don't try to actively restrain someone because you could inevitably injure their joints. So what we say is try to remain calm. Note what's going on. If it's happened repeatedly, what I tell parents nowadays to do is please capture it with your video phone. So if you can captured on video, it's extremely helpful to us.
And then be cognizant of the time. Most seizures will stop within two minutes. If it doesn't and it continues, then that would be a situation when either, if you're prepared, you would give emergency medications or you would call EMS.
Yeah. I would imagine for-- it's probably very counterintuitive for parents when you say video it, but it's-- as you mentioned, that's very helpful to you and your team. What do you look for, when you see something like that? Why do you do that?
Going back to Dr. Tao's comments about what kinds of seizures there are, it can be very helpful for us, when we see it-- I've personally seen tens of thousands of seizures-- and what the EEG or the brainwave tracings are that accompany that. So by looking at it, we can often tell a lot about what kind of seizure that was.
But to take a step back, sometimes things that look like seizures are just mimicking seizures. And that happens not infrequently for us. And so say someone passed out, for example. So by looking at the video of that we, can also get a pretty good sense of whether that was a seizure or not.
That's a simple technology that was not available to me.
And I remember coming in after my daughter would have a number of seizures, and I would try to describe them. And my husband and I would be, no, her left arm went up, no, her right arm up, her eyes went this way, her eyes went that way.
And oftentimes, it's the only thing we have.
Yeah. So it's a great help.
And I can imagine, as a parent, particularly when you first witness and experience this, it's probably incredibly difficult to remember what happened because your mind is going in--
--12 different directions, at that point.
You're trying to save your child, at that point.
What I've noticed, though, Tim, that's remarkable about human beings is that, if you let people get that off their chest you-- they tell you first what happened, and then if you take them back and say, OK, what was the first thing that alerted you to the event, and then you go through it bit by bit, it's remarkable how much people actually retain from what they observe.
But being so traumatic, it's kind of like they've been traumatized. You have to let that go, and then bit by bit, many times, you can reconstruct what's happened. But cell phones are amazing.
So Dr. Tao, from your standpoint, when an adult is experiencing a seizure or getting ready to experience a seizure, do they have any warning? Do they know that this is coming, or is it just instant?
Yes. Oftentimes, people can sense some warning symptoms before the seizures-- typical warning symptoms, such as they sense of fear. They have sense of stomach sicknening, and have some flash lights when they see. This can actually very helpful for us to understand what type of seizures the patient could have. But in patient with a generalized seizures, they often do not have specific warning symptoms.
And Susan, you mentioned your daughter was very young, when she started having seizures. Seven months, is that what you said?
Seven months, yes.
And she would have multiple seizures in a day?
So was there any wanting to you, as they were coming on?
We eventually learned her seizures always clustered like that, so there was never an isolated seizure.
Always started during sleep, and always started with that thing you just--
--a feeling of fear, so she would scream out, and as the cluster went on-- and we had emergency medicine at home. Eventually, we learned we didn't have to hospitalized with every episode. But if left unattended, she would get into status epilepticus and non-stop seizures.
So we are taking questions from our viewers, and we do have our first one. I want to remind people, if you do have a question, just type it in the comment section. We'll try to get to as many as possible. Let's answer this first. One are ways to minimize SUDEP-- or sudden unexpected death in epilepsy-- and what are the causes? And I'll let whoever wants to take that one.
Yes. SUDEP means a sudden unexpected epilepsy. It's a real condition-- sometimes could happen in someone who had convulsive seizures. The best way to minimize the risk of epilepsy is to control the seizures. At this point, this is our first and most effective preventative treatment.
At other times, we could have people who also being around, share the same rooms. Also, some seizure alarming devices can also help the SUDEP.
Dr. Nordli, are there any age parameters on SUDEP, or is this--
Unfortunately, it's not discriminating. It hits across the age spectrum. It's one of the most dreadful things that we deal with. It's not uncommon. Another imperative of all the wonderful work that cure is done is to raise awareness of this, and researching this horrible consequence of epilepsy.
But observation, like Dr. Tao said, and now there are devices that can alert us, which has also changed things favorably to the presence of a seizure. And we think that, many times, if you can be alerted and go in and attend to the person, then that could be very helpful.
And unfortunately, we still do not understand what exactly causing SUDEP. At this point, our best defense is to control the seizures. Particularly for someone who has epilepsy, do not stop the medication by yourself, because if you stop the medication, seizures can come-- having convulsive seizures more likely.
Interesting. And Susan, epilepsy does not discriminate. It affects all races, ages. And so that's why it's so critical to do your work, as far has raised awareness. What are some of the things that CURE does to get the word out?
Well, we are we are increasing our social media presence.
And we appreciate that.
Yeah, thank you. Thank you.
We try to get people around the country to host their own awareness and fundraising activities. Awareness is not our mission. It's a vehicle to increase patient participation, to raise the funds that we need. So our real focus is research. Having said that, we really need to raise awareness.
And when my daughter was diagnosed, I didn't know-- again, dating myself-- it was pre-internet. I wasn't able to connect with other parents. I think the value of other family members being able to connect with each other is tremendous, and I think that that-- we're just building a much greater, stronger, more hopeful community together.
What kind of research does CURE support, as far as epilepsy? Is there any specific type that you really go after?
Well, we do have this big program in conjunction with the Department of Defense in traumatic brain injury and the epilepsy that results from that. We have a real focus on pediatric epilepsy, because that's really what brought many of us to the table. That's where our hearts are. That's where you have sometimes this-- either the early loss of life or really, really tragic long-term unavoidable consequences, in terms of cognition and development.
And the genetic epilepsies we've found, as a new gene is discovered, and that seems to be happening at a fairly rapid pace. The research kind of follows that. And so we would love to get more targeted, personalized treatments to patients, once their genetic cause of their epilepsy has been discovered.
Your mention of the work with the DOD is just fascinating to me. And again, I think this is an area that obviously needs lots of attention. But for these servicemen and women who have the traumatic brain injury situation-- and you mentioned that, oftentimes, they won't experience it until years later.
Wow, that is-- that's a very sobering thought.
Well, it is. You can probably speak more, but I've seen studies. It could be 10 years or so before the epilepsy develops, or at least as witnessed.
And most of the time, if somebody suffered a brain injury, in a time frame of six months to a year or two year, that's probably the most frequent time window.
Tim, Susan's being very modest about this. CURE is a major fundraiser and research in epilepsy worldwide.
That's pretty exciting, actually.
It is very, particularly for a Chicago-based organization.
And in addition to that, Susan really completely reset the bar of what are the expectations for epilepsy treatment. So I think it changed all of the practices across-- certainly in our country, and beyond, of not accepting side effects and incomplete control.
Don't be so modest.
Well, I have Dr. Nordli here. Thank you.
So how long has CURE been in existence?
We were founded in 1998.
This is our 21st benefit coming up.
And in that time, we've given out awards all over the world, actually. And we have a wonderful support system in the peer review-- many, many people helping in many ways. The scientific community has been tremendous.
That's fantastic. So we are getting more questions from our viewers, and I'd like to get to as many of those as possible and see if we can stump our experts too. That's always kind of fun.
No, we can't. Why is it so difficult to find the best treatment options for children or adults suffering from epilepsy? And I think that kind of goes to your point earlier, that it's such a challenging disease. I don't know if you care to address that one.
I could start as often. It is, and as Susan indicated, we don't-- and as you mentioned in the beginning-- that we don't understand the precise mechanisms in probably the majority of individuals. And so that's why we're not at the point yet where we're targeting specifically, with our medications, the problem.
So instead, we're going with what we believe will be the most successful based on data, but it's not pinpoint precise. And that accounts for why we have a number of trial and errors to try to get to the right medication. But even then, there are still patients that aren't responding well, and that's why we need more research and new treatments to get to those additional people.
So Dr. Tao, Dr. Nordli mentioned medications. Are the surgical options as well?
Yes. Unfortunately, 30% to 40% of the patient, their seizures cannot be controlled by medications-- what we called the drug-resistant epilepsy. When someone has drug-resistant epilepsy, we often have to resort to other treatment options, typically like ketogenic diet, in pediatric populations, particularly.
And also sometimes we use these called the medical device, like neurostimulations, like vagus nerve stimulations or responsive stimulation But the most effective treatment for people with drug-resistant epilepsy is actually epilepsy surgery, particularly in our center. Traditionally, the surgery is performed through the open brain surgery, but recently, in our center and other centers, the minimally invasive epilepsy surgery, such as laser surgery, has become really a promising alternative to the open brain surgery.
Interesting. Another question from a viewer-- frontal lobe epilepsy, that is that common? And what is that?
Frontal lobe epilepsy is fairly common-- maybe not the most common. In adults, I'd say probably temporal lobe epilepsy is more common.
In pediatrics, we see epilepsy that comes from a variety of different regions in the m and frontal lobe is one of them. And it has some characteristics. It could be caused by many different things, but if you were to simplify it, I would say most often, frontal lobe seizures tend to come at night. They tend to be relatively brief. They make cluster.
And they may have very agitated movements-- like a lot of violent movements can be seen sometimes with frontal lobe seizures. When that happens, we want to look carefully and see if we can identify what the cause is. Is structural or genetic?
Interesting. More questions from viewers-- we're getting a lot, so we appreciate that. That's always fun to see. I love the interaction from our audience, because they're so sharp, quite frankly. Could there be different treatments with certain ages of people having epilepsy?
And Susan, you might even be able to speak to that a little bit, as your daughter's has progressed.
I actually can't clinically or scientifically, so I'm going to--
--defer to them. But I will say that we-- I think I mentioned earlier we went through over 20 different medications to get to one. And it was one of the reasons we do what we do at CURE to really try, as what you're talking about, to get more personalized, targeted approaches-- is that it felt, at that time, like we were just sort of throwing a dart at a dartboard and saying, here's a new medication.
And we had an influx of new medications, I think, in the '90s. We had quite a few. None of them worked for her. In April of 2000, she was in really, really bad condition. She was in the hospital. And a new drug, Keppra, had come on the market, and so it was just the next drug to try. It wasn't that we thought it would be particularly helpful, but might buy us a little time until the next drug. And that was sort of the attitude that we had at that time.
Miraculously-- and so I say this not because Keppra is going to be the answer for everybody, but because it gives hope to people who are out there, I think, struggling-- it has controlled her seizures totally. So we're going on 19 years--
That's really good to hear.
--without a seizure.
Well, and before the doctors jump in, you mentioned something that I think we need to discuss just for a moment. All of the medications, hospitalizations, they're expensive, and there are a lot of parents out there that struggle financially. And I can't imagine being in that situation, when your child is suffering and you are--
That added burden.
Absolutely. That's just got to be terrible.
Yeah. And we had issues when she was younger. And my husband changed jobs. I was never able to actually go to a workplace, because her care was so demanding. But when he changed jobs and we change insurance companies, she was insurable-- so pre-existing condition.
And we ended up having to pay out of pocket. At that time, her medication costs alone were $1,200 a month, because she was always on the newer drug that was always the more expensive drug. It's horrendous. Yes.
And an area that we still need to do a lot of work in in our country.
And I won't get on my political soapbox right now. And the doctors, if you can both talk about the ages and treatment, and how that differs, if you will, please.
Sure. As came up earlier, one of the treatment differences is the use of dietary treatment. So ketogenic diet, modified Atkins, these kind of diets tend to work very well in a subset of children. As we get older, our brains can absorb and use that ketone bodies that are the big part of the ketogenic diet, so we don't tend to use the ketogenic diet as much in adults.
We have specific kinds of epilepsy that occur in little babies-- for example, infantile spasms-- and we'll treat those differently than we do seizures. In older children or adults, we'll use hormonal treatments and different medications than we'll commonly use. That being said, there's a very important message here that the late Jack Pellock, a friend of ours, championed, which is that every drug that worked in adults for focal seizures does work in children.
So there's no need for us to waste a lot of resources in re-exploring that, reinventing the wheel. So we can learn a lot from the adult experience, which is very helpful.
Can I just ask a question about that?
Because I wonder about side effects. We haven't really addressed what can be really wicked side effects from these drugs.
Yes. It's a really good point. Because when I was saying that, it's only with regard to efficacy. We have a completely different side effect profile and drug kinetics, or how the drug is metabolized in children. So that's a really good point. So we still need to study them.
Yeah. And I know, as a parent, you would sometimes weigh seizure control versus side effects.
I want to make a comment, because the-- in general, the old seizure medications carries more side effects. The new generation of seizure medication is often more tolerable-- not necessarily more effective, but I think the development of a new generation medication really help us to provide effective treatment, and at the same time, to minimize the unnecessary side effects.
Great. And we are close to the end of time, and I've still got some more questions. I want to get to as many as we can. We may run a little bit over. That's OK. We can go on as long as we want You guys may have stuff to do, but we won't keep you here too long.
Here's a comment that I thought was nice. My 10-year-old son just had frontal lobe laser surgery this year with University of Chicago and Dr. Nordli and Dr. Warnke, with fantastic results. We couldn't be happier with our new normal. His epilepsy was due to-- is it cortical dysplasia? Is that correct?
--in his frontal lobe. They're very thankful. So that's a nice one to hear. Here's another question, though. CBD or medical marijuana-- I knew we would get this one-- does that help?
Let me just provide a little bit of my own experience. I think CBD or an epidiolex can be very helpful to certain type of epilepsy. Currently, is approved by FDA for two conditions. One is Dravet syndrome, and the other one is Lennox-Gastaut syndrome. In my experience, the CBD oil can be very helpful in epileptic syndromes.
Interesting. Another question from viewers-- some would like you to talk about some new treatment options that are coming down the pipe. What do what we see in the future?
Well, I think there's lots of things. I think Susan Axelrod alluded to it earlier that one of the most exciting things is to fix the inherent problem-- not just deal with the symptoms of epilepsy, but go after the primary problem. What's right on the horizon are all of these ways to alter the genetic expression, and that is extremely exciting.
And that's thanks to the research that CURE and other organizations have supported to help us understand, what are the genetic underpinnings of epilepsy? Now, we know, in many cases, and we can start to target that. So this is going to open up an incredibly exciting time period in child neurology and in epilepsy.
That is very, very exciting.
Susan, I'm going to have you finish it up today. So do you envision a cure for epilepsy in the near future?
I don't think we can't afford not to. I think that, if we don't put that out there and keep striving for it, it won't happen. And I'm not willing in my lifetime to say that it's not possible. And it may come in the form of cures for the different syndromes, one by one. Every life saved and improved is worth all the work that we do.
And clearly, you're not the kind of person that just is going to let this go.
I want to echo Dr. Nordli.
I think the gene therapy probably provides the best hope for the genetically related epilepsy. In epilepsy with brain injury, I think the surgery also provide the cure for those.
That's fantastic. It's exciting times.
That's great to see some positive news like that on the horizon, so that's very exciting. All right, you guys were fantastic.
Wonderful job. That's all the time we have for the program. Please remember check out our Facebook page for future programs and helpful health information. Also, if you want more information about UChicago Medicine, please take a look at our website at uchicagomedicine.org. And if you need an appointment, you can give us a call at 888-824-0200. Thanks again for watching, and we hope you have a great week.
Douglas R. Nordli, Jr., MD
Douglas R. Nordli, Jr., MD, is a child neurologist specializing in early-onset epilepsy and a co-director of UChicago Medicine’s Comprehensive Epilepsy Center.Learn more about Dr. Nordli