Genetic Testing and Epilepsy-Genetic Testing in Epilepsy: Improving the Patient and Caregiver Experience

Video Transcription

So, I'd like to start by thanking the Child Neurology Foundation for inviting me to be here today.  And thank you to all of you who are listening, because your passion and commitment to helping patients and families like mine is just incredibly inspiring.  I'm Leah Myers, and my official title is mom. And on the side, I serve as the founder and executive director for the family's SCN2A Foundation. So, I have no disclosures.  Well, I kind of do. I'm not a doctor. I'm not a nurse. I'm not a researcher, scientist. I'm not a professional speaker, like I said. And I've also never had a seizure.  I'm just a mom to a very special little boy who has epilepsy. And when faced with a challenge, I chose to fight.  And my goal in sharing our story today is that it will bring you a different perspective into the life of one of your patients, and that maybe you can go back and inspire them  to step up and be an active part in finding a solution. So, my objectives are pretty simple. The entire family is affected by a diagnosis of childhood epilepsy.  Finding the etiology early is critical. And empowering families with knowledge not only improves the outcome for that child, but can have a major ripple effect.  All right, now the good part. Meet Ben, serial hugger. Ben loves water of any kind, playing in the pool, the sink, the bath, and the occasional  toilet if somebody accidentally leaves the seat up. He loves Cheetos, four-wheeler rides with his dad. We live in rural Pennsylvania, so we do that kind of thing.  He loves music, hugs, and of course, his mom and dad. Ben has the amazing ability to win over everyone's heart without saying a word or even making eye contact.  He's the definition of love and truth. But because he's nonverbal and he intellectually functions on a much younger level than his  chronological age, he's unable to do many things, too. And some of my favorites are his inability to lie, cheat, steal, be sneaky, or hurt somebody else.  Ben is able to do many things, also. And some of my favorites are his ability to hug, love unconditionally, and makes everyone else so very happy.  Ben just celebrated his 12th birthday, and that in itself is a really big accomplishment given how sick he was as a baby.  And the chances that the doctors gave us, he'd even see two. So here he is today. He looks great, right? Like happy, healthy, like a typical little boy. But he's not well.  He suffers from an array of medical and developmental diagnoses because of the epilepsy caused by  his SCN2A-related disorder, which for the remainder of this talk and for obvious reasons, I'm going to refer to it as SRD.  He continues to have seizures, although they're very much more controlled now. He's in diapers. He has a feeding tube. He's legally blind.  His development is that of an 18-month-old baby, and that might be stretching it in some categories.  He's completely nonverbal, unable to do, like he's unable to communicate any of his wants or needs, anything basic. He's oblivious to danger, and he needs 24-7 supervision.  He was recently diagnosed with osteoporosis, and he needs infusions now. He also suffers from neuromuscular issues such as hypotonia, which led to severe scoliosis.  And just last month on October 26th, he had a full spinal fusion, T4 to L4. You wouldn't even know it if you looked at him. He's bounced back, and he's doing really, really well.  So his story started out like a fairy tale. He was born on a Friday, weighing in at eight pounds, nine ounces. He was gorgeous, and he was perfect in every single way.  He was the prettiest baby in the nursery, and that's a fact. It's not biased. My mom told me. We were in love immediately and spent the first several weeks just staring at him in  awe of this perfection that we had just been blessed with. But it wasn't too long into the second month that we felt something was off.  And we brought up our concerns many, many times to our pediatrician. He wasn't making eye contact at all. I was actually avoiding it.  Like if I looked him in the eye, he would turn his head. He wasn't bearing weight on his legs. Like when you stand up a baby on the floor, they put their legs down.  He'd just lift his up. He had a weird shaking in one of his legs, which now I know was clonus, but you don't know what you don't know. As a new mom, I didn't know that.  He had this excessive lower jaw quivering that came in clusters. I actually took him in for that, and they said it was an immature nervous system.  All of the concerns fell to the curb because he never fell off the chart for development. He was always this close to falling off the chart, but never actually did.  So they used a lot of things like immature nervous system, paranoid first-time mom, or my favorite, he's a boy and boys are lazy. Don't compare him.  We tried to push out the thoughts that something was maybe wrong with our little boy, so we just kept cheering him on as he learned how to crawl and stand, and he even took a few  steps on his first birthday party. But although he continued to make strides with his physical motor skills, right around  11 months, we noticed a regression in his social and emotional development. Ben lost his smile, and he lost a few sounds that he was making, which were mama and dada.  And we just knew something was wrong, and we thought it was autism. So a month later at his one-year checkup, we stood for him and we demanded to be heard.  We just put our big kid pants on and we were like, we're going to not leave this appointment without something.  And they agreed, and they referred us to get developmental testing done. But we never made it to that appointment, because six days later, Ben started having seizures.  And it took another few weeks to learn that the seizure type was infantile spasms. He was not admitted to the hospital.  He was not referred for an EEG, I mean, sorry, he was not referred for an MRI. They found the hip arrhythmia on a 30-minute EEG.  We never had a lumbar puncture, never got genetic testing. Our first neurologist, she asked us how we wanted to treat it. I was a medical secretary and my husband's a UPS driver.  We didn't know how to treat infantile spasms. As we watched her write scripts and then tear them up three different times in 15 minutes, we knew we were in trouble.  Everything we read said that infantile spasms is a catastrophic form of epilepsy. This type of epilepsy is considered a neurological medical emergency.  If not treated immediately and aggressively, it likely will cause devastating and irreversible damage. The autism concern fell to the curb.  We didn't care about that anymore, as we're now in a race to stop his seizures and save his life. Ben was having hundreds to thousands of seizures every single day.  Most days, all he did was seize and sleep. My husband and I would take turns holding him because it was emotionally too hard to sit through an hour-long cluster of seizures.  We would take turns holding him and a pillow so when his head violently dropped, it would not land on our shoulder or anything hard, and it would land on the pillow.  His health declined before our eyes. It was hard to tell what was worse, the seizures, the medical problems that came from the seizures,  or the side effects of the strong anti-epileptic drugs that we were pumping into his little body.  He lost everything, every single milestone he had gained in that first year, and he reverted back to a newborn.  Our second opinion neurologist told us, after attempting only one new treatment, that this is how he was going to be from now on, if he survives.  Brent and I did not accept that death sentence, and we sought another opinion and then another until we finally found a team who was willing to fight as hard as we were.  There are really few words that exist to describe how it feels to receive a life-altering diagnosis like this for your baby, who seemed healthy the day before.  Our lives were flipped upside down, and we seemed stuck in time, frantically hoping that the doctors were wrong.  From the minute that we learned that we were having a boy at our 20-week sonogram, I had this vision of him in his Little League uniform.  And the minute that we learned about what happens to, quote, these kids, that dream just disappeared. And I still, to this day, can't even picture him in that uniform anymore.  I just kept asking, why? Why him? Why us? Why is this happening? But the first doctors we saw, they just weren't as concerned with the why as they were with  stopping the seizures, which is understandable. So I started searching online for anything that could help me understand what was going on.  And that's when I discovered the power of social media and support groups. I posted a question, and within minutes, I had 18 answers from moms all over the world  who had been there, and they were a wealth of knowledge. Although several of our clinicians were warning us to avoid the rabbit hole of Google MD and  online advice, it was these moms who taught me everything I needed to know to help Ben get the best care he needed. And it's how I became an advocate.  The most important thing I learned was that there's always a cause. And that may alter the course of treatment and ultimately his future.  And I know many of you in here will probably disagree with that statement that there's always a cause. But if you go in thinking that you won't find it, you won't.  So please, change your thinking. Our road to finding that cause was not smooth. Our first two neurologists never even suggested genetic testing.  Luckily, our third neurologist did set us up with a geneticist, and he ran three single gene tests, each taking months to come back, and each were negative.  Ben was getting worse as the time went on, and I knew we were in a sprint, even though they kept trying to say it was a marathon, you know, just relax, this is a marathon.  We were in a sprint. He was dying. It was terrible. So I, again, turned to my online support group, and I learned that GeneDx, a leading  genetic testing company, was running a panel called the Early Infantile Comprehensive Epilepsy Panel. 53 genes.  And this is in 2012, 2013, when it was really, really early, so it was only 53 genes on there. But no matter what our insurance covered, the maximum out-of-pocket cost for us would  be $100. I learned that from the moms. So I then went to my geneticist, and I said, I want this, and he agreed.  And six months later, it came back, and we got the call that shed the light on why our baby was so sick. The panel showed a change in his SCN2A gene.  I was like, SCN, wait a minute, say it again so I can write it down. It was just a whole bunch of letters and numbers that meant nothing.  We were told a lot of things in the beginning, none of which hold true today, like SCN2A is Dravet syndrome, and to avoid all sodium channel blockers.  They said we were the only case of SCN2A, and because it's so rare, there's no research, and without research, there'll never be a cure.  We were told this is a tough break, and to prepare for the worst. Ben will never walk, he'll never talk, and he'll likely not make it through childhood.  But the truth is, they really had no idea back then what a diagnosis of SCN2A meant, and I just kind of wish they had said that instead of trying to prepare us for the worst.  So our life now revolves around a disease, and when we were faced with the choice of acceptance or action, we chose action, and we chose to fight it.  It goes without saying that we accept and love our son for who he is and how he is today, but we're going to fight for a better future for him every single day.  I mean, after all, he went from a walking, babbling one-year-old to a 20-pound newborn who couldn't even hold his tongue in his mouth anymore, and since he's regained the  ability to sit, he learned how to crawl again for a second time, he's learned how to walk again. He endures eight hours a day of intense therapies and instruction.  He's resilient and stronger than me in every single way, and the least I can do is fight for him.  And that's when I realized that all that fighting that I had to do just to get the diagnosis set me up for the next battle, and that's to help find a cure for this disease.  So once again, I found myself turning to social media for help. It had been a lifeline before, and I was going to harness that power again.  In 2013, I started the Facebook group, a Facebook support group called SCN2A Epilepsy, with the simple goal of finding another mom to commiserate with.  I just knew Ben wasn't the only case of SCN2A out there. I'll never forget when that first family joined.  We stayed up all night comparing notes, like we thought, you know, we were just best friends by the morning.  So when you're thrust into the world of rare disease, babies having seizures and lost futures,  you cling on to what you can to keep afloat, and for me, that's been the other moms that I've met on this journey.  These people, who many of them I had never met in person, have become my family. Within six months, there were 20 of us in the group, and then a year later, 50.  Our neurology team was shocked by how many patients we had been able to find, and the table suddenly turned, and now I was teaching them about SCN2A.  A year later, along with another parent who's in this room, started the work to take the Facebook group to the next level, and the family's SCN2A Foundation was born.  So as you can see from this picture, Ben's not the only case of SCN2A, and I'm not the only mom who chose action. So if you heard my talk last year, this is an update.  So if you haven't been convinced yet that genetic testing is necessary, I'd like to tell you what we just found out.  Over the last two years, Ben has received a bunch of new diagnoses that don't match the SRD.  For instance, his pupils have been dilated, much larger than they should, for about seven years now, and nobody can give us an answer as to why.  His neuro-ophthalmologist suggested maybe he's having headaches, so let's do a 3D CAT scan. We did it, and it came back showing multi-suture craniosynostosis.  If you know what that means, it usually is related to some genetic condition. Not SCN2A, but something.  And then they did a bunch of testing, and it turned out it wasn't bothering him. No pressure, no symptoms, so they just said, it's just a weird thing, and it's not bothering  him, so we're just going to ignore it. It's just chalked up to that list of weird things that Ben experiences without explanation.  Also, last year, he started to develop these cafe au lait spots all over his arms and his torso, big ones, and multiple.  That should be another sign that maybe we should think about maybe some more genetic testing. Again, no explanation, went to a dermatologist.  They said, yeah, usually that's neurofibromatosis, but he doesn't have that, so I have no idea why he has this.  As many of you in this room likely know, both of these things aren't related to SRD, and the logical thing would be to do some more genetic testing.  Ben was diagnosed on a panel, remember, so we never had full exome sequencing. Believe it or not, this day and age, I had to fight again, and I was told no, and so  I had to go get another opinion to get the genetic testing done, and I went and got another opinion, and they said, of course, he needs full exome sequencing, and they ran it, and  the results came back positive for a pathogenic splice site mutation in the TTN gene inherited from dad and known to increase the likelihood of developing dilated cardiomyopathy.  This does not answer anything to do with the craniosynostosis or the cafe au lait spots or anything neurological, and some of you might argue that this kind of genetic testing  can lead to a rabbit hole that leads to nowhere, and that's not our case. We're extremely grateful for these results.  It has led to both Ben having full cardiac workup, and Ben is fine. His heart is healthy and fine, but it also led to my husband having to get a full cardiac  workup, and my husband is 52 years old, and he's in pre-heart failure, zero symptoms, and probably wouldn't have had symptoms until it was too late.  One further questioning of his family, his uncle died at age 55 of sudden heart issues that weren't related to cardiac arrest, so this has led to his family members being tested  and most of them coming up positive, too. So Ben likely just saved my husband's life. So never think that it's not worth it. It's worth it. Do more genetic testing.  So would Ben be typical now, today, if he didn't have to endure six months of hypsarrhythmia? If we discovered the SCN2A gene earlier? I mean, probably not, who knows, right?  But what I hope you take away today from listening to my story is that just like no two patients are the same, no two parents are the same either.  So don't shield us, empower us, encourage us to learn and become the experts, because nobody is going to fight for a better future for pediatric epilepsy like a mom trying to  save her kid's life. Thank you.

Video Summary

Leah Myers, founder of the family's SCN2A Foundation, shares her journey as the mother of Ben, a boy with an SCN2A-related disorder. Despite not having a medical background, Leah became an advocate for Ben, highlighting the importance of empowering families with knowledge and early diagnosis in cases of childhood epilepsy. Ben, who suffers from a range of medical issues, has faced significant challenges from a young age, including severe epilepsy. Through social media and support groups, Leah learned critical information leading to Ben's genetic diagnosis, emphasizing the necessity of genetic testing and early intervention. Leah's advocacy extended beyond her family as she created a foundation connecting numerous families affected by SCN2A. Her message underscores the need for medical professionals to support and empower parents as active participants in their child's treatment, advocating for relentless pursuit of diagnoses and solutions. Her story highlights the vital role of parental advocacy in navigating complex medical journeys.

Asset Subtitle

Presenter:

Leah Schust Myers has spent her entire career working in health care administration and never imagined she would find a use for her skills in an entirely different way. Through her experience, she learned how to manage the needs of large populations within a medical setting. When Leah's son, Ben, was diagnosed with an SCN2A-related disorder in 2012, it became abundantly clear how to leverage her 20+ years of experience to help not only her family, but hundreds of others. In 2019, Leah transitioned from her volunteer position as President of the Foundation Board, to the Executive Director role. The experience she brings with her, especially from her most recent position as Executive Project Manager for a fortune 500 Healthcare company, is giving the foundation the professional edge to meet the growing needs of the community.

Keywords

SCN2A Foundation

childhood epilepsy

genetic diagnosis

parental advocacy

early intervention