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TABLE OF CONTENTS SAVE THE DATE
1 Welcome – Letter from the Founder Peace of Mind Lecture 2 The Dr. Blanca Vazquez Summer Camp Anli A. Liu, MD Scholarship Tuesday, September 13th 3 College Scholarship Alumni Hall A
4 Fun Facts
5 Meet Eggroll, My Best Friend and Service Dog freshFACES 6-7 Brain Storms Thursday, October 6th 8-9 Parent Perspective Current at Chelsea Piers 10 -11 2016 FACES Gala Recap
12 freshFACES 2015 Recap
13 Parent Panel at the 2016 FACES Epilepsy Conference Game Day 14 A Marathon for Hope Saturday, October 22nd Introducing the FACES Young The Field House at Chelsea Piers Professionals Support Group
15 The Purple Spoon Presents: Recipes Everyone Will Love
16-17 Wonder About Neurosurgery? FACES Gala 2017 18 SEIZED: Inside the Mystery of Epilepsy Monday, March 6th 19 Different Ages but the Same Disease Pier 60 at Chelsea Piers
20-21 FACES Funded Research Initiatives
22-23 Ongoing Research Projects
24 The FACES Team WELCOME – LETTER FROM THE FOUNDER
2016. A Year. A time of opportunity. A time to reflect.
Last year we lost two treasures of our FACES community – Oliver Sacks and Melissa Mathison. Oliver remains a daily inspiration – for all his creativity, his lessons on humanity in a medical world enveloped by technology and metrics – but mainly for the curiosity and wonder and honesty and fun he embodied. His light was brightest when his days were few.
Melissa, famous for her screenplay of ET, was known to friends and family as a gentle soul of deep strength and an intense spirit. She knew how to create and how to love. Poignantly, shortly after she was diagnosed with cancer, she read Oliver’s first piece in the New York Times on his imminent mortality, and she ‘lingered long’ on his words. She passed two months after Oliver.
They were kindred souls who left a legacy as wide as imagination.
2016. A future of possible. Sudden Death in Epilepsy – SUDEP – remains Two of the newest and most exciting potential an area where FACES has organized the world’s epilepsy therapies were pioneered with NTU/ largest registry as well as a study that spans more FACES leadership. FACES helped to sponsor the than 25 epilepsy centers across 15 countries. We organizational meetings, academic conferences and spearheaded the first collaboration of the epilepsy, partnerships — together with GW Pharmaceuticals medical examiner and epidemiology (Centers for — to move cannabidiol, the major non-psychoactive Disease Control) communities to standardize how compound in cannabis (marijuana), from anecdotal we approach epilepsy-related mortality. FACES possibility to scientific evidence. After more than is also leading the efforts in Sudden Unexplained 2,500 years of using cannabis to treat epilepsy, Death in Childhood (SUDC), which claims the lives of we finally have evidence that one of its major 400 toddlers per year, a third of whom have febrile compounds really helps to reduce seizures in children seizures. with Dravet Syndrome. At the same time, NYU/FACES investigators helped to lead the study that proved Game Day, the Parent Network, our Annual Epilepsy Everolimus, a drug that reverses the metabolic Conference, camp scholarships and college abnormality in tuberous sclerosis complex, reduces scholarships help improve the lives of so many. seizures in patients with this disorder. Clinical care – finding the best therapies and the safest and more successful path forward – remains Two of the most innovative epilepsy therapies in the our core. past decade. 2016. Like so many other years, we should celebrate We remain committed to pushing the envelope our accomplishments, but reflect on the terrible harder with the first ever genetic trial in epilepsy. reality that for so many, epilepsy remains an Ataluren, a drug that can increase expression of unpredictable and disabling disease with too many normal proteins in patients with specific genetic that remain far too common from memory loss to mutations (stop codons), will be tested in patients depression to death. with Dravet Syndrome and CDKL5, rare but devastating genetic epilepsies. Neuroinflammation With your help, we will continue to rudder the future remains a burning topic in epilepsy and NYU/FACES towards a safer and sweeter world for people with is actively collaborating with international colleagues epilepsy. on exploring new therapies and diagnostic tools.
The Human Epilepsy Project – the largest collaboration ever focused on patients with focal epilepsy – will help us to understand why some patients have epilepsy which is easily controlled Orrin Devinsky, MD and others face ongoing seizures despite disabling Founder medication burdens. 1 THE DR. BLANCA VAZQUEZ SUMMER CAMP SCHOLARSHIP
By Lisa Block
ur daughter, Sara, is a very happy and outgoing 27-year-old. She has been attending summer camp since she was 15-years-old. The year before she went to Ocamp she was having a really rough time controlling her seizures. Sara was hospitalized at NYU Langone Comprehensive Epilepsy Center and received outstanding care to get her back on track. While we were there, we met the Parent Network Coordinator, Peggy Guinnessey. In that time frame, I also met a parent named Roseanne. They both encouraged us to consider sending Sara to sleep away camp with the Epilepsy Foundation of New Jersey, Camp Nova.
I thought, “how could Sara possibly go to camp when she
had so many partial complex Sara Block with her service dog, Brees seizures?” independence, and great friendships. Last year, Sara was able to have her service dog, Brees, tag along Roseanne assured me that Camp Nova had qualified with the campers. The camp was wonderful with the staff trained in seizure first aid – the staff at Camp dog. Nova was able to handle her daughter who was more complex than Sara. My husband and I get a week to ourselves. This means a week without setting four reminder alarms The first year, my husband and I reluctantly dropped to give Sara medicine and not scheduling all meals Sara off at camp and called the facility daily. We were around it. During camp week, we don’t have to follow very worried about how Sara would do away from Sara everywhere watching for the next seizure. I am home. The nurse updated us on how Sara was doing pretty sure we like camp week as much as Sara does. and assured us she was having the time of her life. I sent Sara with a cell phone to camp and she never If it weren’t for the NYU FACES Dr. Blanca called me once. I asked her when I picked her up why Vazquez Summer Camp Scholarship Program, she didn’t call me and she said, “Mom I was having I am afraid we would have never signed Sara up too much fun”, and then started to laugh. for camp. Then we would have never known what a difference a week at camp would make in Sara’s Sara has continued to go to camp throughout the life and in our own. We want to thank all of the years, made friends, and tried activities that were philanthropists who have made FACES the wonderful challenging for her. She loves the zip line, formal organization it is today. Sara, her dog Brees, and the dance time, arts and crafts, bonfire, and award nights. campers at Camp Nova are going to have another The bond between the campers is indescribable. At wonderful summer. Camp Nova, Sara is extremely popular -- she always helps the new campers get acquainted with all the fun things to do there. Camp has helped her gain more self-confidence, a sense of adventure, a love of
2 COLLEGE SCHOLARSHIP
By Ryan Quinlan
suddenly felt it coming on and screamed, “help”! I slid off of the leather chair and remembered thinking, it’s so slippery, it’s almost like being on a water slide. My family came into the room and saw Ime on the floor. I laid still, except for my head, which was moving up and down and in different directions. I couldn’t talk to anyone but was thinking, why haven’t I passed out yet? I was too scared to close my eyes, so I fought to keep them open and thought, if I keep my eyes open, I could survive this.
I have epilepsy and that is what a seizure feels like.
When diagnosed, I had seizures on a daily basis and felt the loss of freedom most take for granted. I wasn’t allowed to walk around the block because it was very likely I would have a seizure and put myself in danger. I lost some friends, but it was to be expected in this situation. One of my best friends (at the time) said it was too weird and he couldn’t deal Ryan Quinlan with it. Having seizures shows who your true friends are. Thanks to Dr. Devinsky, who I like to call a miracle Life was unpredictable and although I didn’t know worker, I have been seizure-free for three years what was going to happen, I assumed my situation now. My EEG is completely clear and my dream to would improve. I was wrong; it took a turn for the graduate from college, work hard and make my family worst. I was unhappy and frustrated. One doctor said and the epilepsy community proud of me isn’t so there wasn’t much hope for me and I should get used far-fetched. I want to be an example to so many other to living like this. Medications didn’t work and neither kids suffering from epilepsy and seizures. I want to did the Ketogenic diet. The special diet consisted of let them know that they can achieve their dreams just high fats that would put my body in a constant mode like I am. In my years of suffering, I learned we are of starvation to create ketones and reduce seizures. I stronger than our afflictions. Completing my college had various kinds of seizures and they only got worse degree would prove it can be done! with age. We documented over 150 seizures every day for four and a half years.
Even with the odds stacked against me, every day having a barrage of seizures, I was determined to continue on with school; giving up wasn’t an option. During my time in high school, I joined the track team, took part in the Ossining Boat Club sailboat race, learned how to play the guitar and passed all of my tests to graduate.
3 FUN FACTS – THE FACES APARTMENTS PROGRAM
By Heather Krol
he FACES Apartments program is provided “cost-free” to families who travel from far away to receive epilepsy treatment at NYU Langone Medical Center. Year round, two standard rooms are available for occupancy at the Affinia Shelburne Hotel located on 37th Street and Lexington Avenue. This hotel is conveniently located within walking distance to NYULMC. Requests for Taccommodations are awarded on a first-come, first-serve basis. Priority is based on financial necessity and medical severity. Furthermore, only 1 room per family is granted. In case there is no availability, families will be referred to the NYU Hospitality Hotline at 212-263-2092, where families may be able to secure hotel accommodations at a discounted rate. Since 2010, did you know? • 432 families total have stayed • Families have come from 29 states and 10 different countries • Length of stay ranged from 1 day to 10 weeks • Pledges are made annually at the FACES Gala to support the program
If you would like to inquire about a FACES Apartment, please email [email protected]. Your message will be returned within 48 hours.
MEXICO
CHILE
ALBANIA
ISRAEL VENEZUELA DUBAI ITALY PUERTO RICO SWITZERLAND UNITED KINGDOM CANADA
4 MEET EGGROLL, MY BEST FRIEND AND SERVICE DOG
By Elizabeth Steller
y journey with Canine Assistants began and laid down in my lap the first time we met. He has when I met Jeanne Garske from the not left my side since that moment. FACES Parent Network at the 2013 Epilepsy Conference. At the time of the Eggroll first alerted me to a seizure while we were Mconference I was 19-years-old and had been living still at the Canine Assistants training camp in GA. with a generalized seizure disorder for 11 years. I was Since then, he has recognized and helped me to anxious to become more independent, confident, and safety on several occasions before any seizure comfortable with my everyday life. activity has begun. He even awoke me from a deep sleep to alert me to an oncoming episode. Eggroll When I met Jeanne, she shared the vision of Canine makes me feel safe when I am alone. He is the most Assistants and told us about her son’s service dog, affectionate companion and a cuddly friend. He Flap. My family and I were intrigued and excited to smiles all the time and loves interacting with people. learn more about the organization that had inspired Eventually I would like to share the love he brings and created a better quality of life for Jeanne’s with others as a therapy dog at our local hospital. son. Through our research, we learned that Canine Assistants is a non-profit organization located in Eggroll’s debut with my FACES family was at the Milton, GA that trains and provides service dogs to 2016 FACES Gala at Chelsea Piers. Eggroll met Dr. enhance and improve the lives of children and adults Devinsky, Dr. Bojko, and even Harrison Ford. who have physical disabilities, seizure conditions or other special needs. I’m excited to share my story After spending many hours discussing my daily challenges and needs with Theresa Martin, the in the hope that other people Recipient Coordinator at Canine Assistants, and with the helpful consultation of my doctors, Dr. Orrin with seizure disorders will Devinsky and Dr. Aviva Bojko, I was selected as a recipient of a Canine Assistants Seizure Response continue to support the Canine dog in February 2016. Assistants organization. The founder of Canine Assistants, Jennifer Arnold, created an approach called Bond-Based Choice The FACES Parent Network changed my life by Teaching ©, which begins with a matching process introducing me to Canine Assistants and my forever between the recipient and the trained service dog. friend, Eggroll. He makes me feel more confident in The bonding process began the moment I met my sharing the truth of my disability with others. service dog, Eggroll. Eggroll is a beautiful two-year- old golden retriever and lab mix. He ran right to me To learn more about the Canine Assistants, visit this link: www.canineassistants.org
Elizabeth Steller with her service dog, Eggroll
5 BRAIN STORMS
By Georgia Ford
t was low tide at Malibu Beach that afternoon in the spring of 2002. I was hunched over the coral examining a sea cucumber. I felt a strange tingle as I poked at the phallic creatures; they tended to Ishrink up inside of themselves when touched. As the water rushed in and pulled out little tide-pools were left scattered throughout the black rocks, glimmering against the sun. I was about to have my first seizure.
It begins as euphoria; a glimmer of bliss, a state of sweet naivety. A flash of fear, like coming upon a snake in the grass, dissolves into a rush of adrenalin; quickly, you fade into oblivion.
Then waking begins. You feel before you see. You taste before you hear. All the while the pain is indistinguishable from the surface of the skin and from the air surrounding it— you don’t feel the pain; you are the pain. The first to be distinguished is the head; but the mind is still separate from the brain. Georgia Ford at the 2016 FACES Gala The headache is the emergence of the two into one. The headache humbles you, it sickens you, it terrifies you. As the vomit rises, your awareness joins in. Then it got worse. Around the age of fifteen a new symptom appeared; with no warning, I would Looking up into my mothers eyes I saw pure fear, suddenly have a total loss of equilibrium followed liquefied and sliding down her cheek. She wasn’t by distorted sight and severe nausea. As if a pair just afraid for me; she was afraid of me. She found of blinds had been lowered half way over my eyes, me; skin stretched like rubber across my face, the what I could “see” out of the bottom half was in room heavy with a metallic scent, my young body constant motion, rooms spinning around me. With reshaped into that of a wizened old man. I asked her a slow increase in both severity and frequency this what it as like to see me that way. “I lied down next to distortion took over my life. Physically, I became you and stared into your eyes until you finally stared an invalid. Doctors couldn’t explain it, couldn’t back,” she tells me. It is not enough to quiet my understand what it was or why it was happening. My curiosity. I beg my mother to film it, but she refuses. mother and I called it “blind-eye”. I wanted to know the surprise an innocent stranger feels — the blood rushing through their body; Lying on my back, my knees in the air, I watched the experience their horror, their excitement. I ached to world around me dissolve into another. I focused see what everyone else did. I wanted to be a witness on the line of my thighs meeting, the crease of skin to my seizures, not just their benevolent host. on skin. As I concentrated on this line it started to alter right before my eyes and my limbs transformed My body betrayed me and my mind failed me. I into a beautiful pair of doors. The doors were made was incredibly dumb; the electrical storms fried my of wood; moldings traced their perimeter as they brain and the medication turned the burnt embers cascaded high up into a tear-drop shaped arc. With into a gooey, grey matter. I had no passion, no any movement of my legs the doors would slightly interest, no ambition; sentences were short, subjects open. I felt this portal teasing me, only allowing me mundane, discussions brief. I existed in a state of to see it a little bit at a time. In reality I was shaking, unselfconsciousness: a presence without substance. my thighs convulsing, having a seizure. In the other
6 world I occupied, looking through this entryway, I only survival instinct had been to have a constant saw what it meant to have faith, to have God. I saw a and acute awareness of how I felt. “I feel weird” had candelabra; peasants adorned in burlap sacks knelt at been my living mantra. Feelings were my reality and a mahogany shrine. I was desperate to go in, to join I was totally powerless to them; the word hysterical them. I ripped at my thighs trying to get them open. was used more than once. Emotionally and socially It was at this moment, age 17, and all kinds of fucked I was “not-of-age” and the isolation that came with up, that I had my first and last religious experience. that was worse than when I had been stigmatized as I never made it into the church, but I heard the a foaming-mouth-schizoid. sermon— kill yourself and be free. It was easy to be half-alive, to live an unexamined life. The year was 2007 and the blind-eye had been at it’s Like a drug addict I counted the days of my epileptic worst for over two months. I saw none of the daytime, sobriety. I revisited my epilepsy only in dreams; the curled up in bed with no sight, no equilibrium, no feeling of blind-eye, the feeling of falling, the feeling clarity. I perceived my future as an inevitable decline. of no one being there to catch me. Eventually the I believed this was my destiny, I believed it would days turned into years and that was all I counted. One never change, I believed I would have seizures forever year ago I reached a threshold: I was now seizure free until eventually I died from one. I was wrong. for as long as I had suffered from seizures. That was the year I witnessed a seizure for the first time. On the 24th of July, my mother and I met the man who saved my life. He told me this was not my I was at my doctor’s office having a routine check-up. destiny; this was my medication. It was at a highly As I followed the nurse through long hallways, lined toxic level and it was poisoning me. I needed to with file cabinets on one side and patient rooms on change medications, but that would be dangerous, the other, I heard a guttural cry. I looked to the noise so I was checked into the pediatric neurology wing and saw a man, heavy set and middle aged, having a of NYU to do so. I stayed there for two weeks with seizure. 300 electrodes glued to my skull monitoring my brain activity. As one medication wore off and another was I stood transfixed, invading his private moment, but introduced I had a myriad of seizures. If I believed in unable to tear myself away. From my obscured view such things this would be the moment of my life I call all I could see was the nurse holding him on his side. a miracle. The medication worked and after a year of As I watched him convulse I saw in him my own neurological recovery I was declared seizure free. image, unadulterated, and it startled me into sobered lucidity. I had long misconceived that there was some My seizures had acted like tidal waves; crashing in secret in the seizure, and that when I finally saw one violently and slipping away silently. I didn’t realize some cosmic truth about myself would be unearthed how much was pulled out with the tide until it was to me. In that moment all I felt was pity, later, I would already gone. So many memories lost to a thirty- realize why: he was everything I could have been; second electrical storms. To put it simply: I did not mentally crippled with nothing on the horizon but the know who I was and I could not remember who I had next seizure. The worst of it was ending and she was been. repeating those words I had heard so often “you’ve just had a seizure, you’re going to be fine, can you tell Epilepsy had pressed pause on my adolescence. Sure, me your name?” I ran from the room before he could I went through the motions; I had boyfriends, I got answer. my period, I lost my virginity, I went to parties, I got drunk, I broke curfew, and all the other normal things, but there was no psychological growth. My formative years were spent in a drugged haze; the real purpose of them eluding me entirely. I had spent almost a decade of my life in the constant anticipation of self-inflicted danger. During that time my one and
7 PARENT PERSPECTIVE
By Brooke Cooper iv’s first grade teacher summarized her perfectly when she stated, “In Liv’s world, the sun is always shining and the flowers are always blooming.” Little did I know, it would soon Ldramatically change. At the age of seven, I began to notice random, intermittent events in which Liv would stop what she was doing, slightly tilt her head and stare blankly ahead for a few seconds. Her second grade teacher voiced concern about Liv “daydreaming” in class. An assessment by a local, pediatric neurologist concluded she was fine, but I wasn’t convinced. I had Liv in an overnight sleep study to assess for suspected, obstructive sleep apnea and inadvertently, it revealed she had idiopathic generalized epilepsy. The doctor reassured me that this was most likely a childhood condition which she would outgrow. Unfortunately, that didn’t prove to be the case. My happy-go-lucky child was slipping away before my eyes. I felt as though everyone had given up on her, therefore resigning her to uncontrolled seizures and an uncertain future. I went online and avidly researched pediatric epileptologists – Dr. Orrin Olivia Cooper Devinsky’s name appeared at the forefront. I called the NYU Comprehensive Epilepsy Center to request a consult with Dr. Devinsky. He promptly We were introduced to Dr. Werner Doyle, Liv’s returned my call and listened to Liv’s story. He asked pediatric neurosurgeon and he explained everything a few pointed questions and then went on to explain in detail, answered all of our questions and put my that there may be other options. He viewed Liv as fears at ease with his wisdom and expertise. On a person, not a seizure log or an EEG reading and a February 23, 2016, Liv began the three-phase surgery few weeks later, we made the six-hour drive from and after eleven days in the hospital followed by an Maine to NYU Langone Medical Center. After our additional week in an area hotel, we headed home to first night of VEEG, Dr. Devinsky diagnosed Liv with Maine and held our breath, hoping that the surgery ESES (Electrical Status Epilepticus of Sleep), a rare would prove beneficial. A follow-up VEEG revealed epilepsy condition defined by continuous, or near Liv was now seizure free, and her EEG was normal! continuous, spike and wave discharges during sleep. This was the first time in seven years Liv has had a Dr. Devinsky immediately began treating Liv with her normal EEG! Our ultimate hope, so illusive at times, new diagnosis, however on December 14, 2014 Liv has finally come to fruition! experienced her first tonic-clonic seizure. I’ve witnessed an incredible transformation in Liv Liv plummeted into a deep abyss of anxiety and since her surgery – her thought process is clear, she’s depression and resigned herself to her room with able to analyze information on a deeper level and her the shades drawn. We desperately needed a change vocabulary has grown exponentially. She’s aware and in November of 2015, we decided to proceed of her surroundings and eager to participate in life. with a formal surgical evaluation. They discovered an Most of all, Liv is happy, present and looking ahead to abnormal area in Liv’s brain (unidentified on previous the future. scans) which correlated with her EEG findings and clinical presentation. After waiting the 6-8 weeks we I’m so grateful to everyone at the NYU Langone were told it would be, we found out that Liv was a Comprehensive Epilepsy Center and FACES but am surgical candidate. the most grateful for Dr. Devinsky and Dr. Doyle for never giving up on my daughter. Liv now has a chance for a happy, productive, fulfilling future with When I presented her with the the opportunity to give back and make a difference. option of surgery, she quickly responded, “I want it, Mom. I don’t want to live like this anymore.” She never waivered from her decision. 8 PARENT PERSPECTIVE
By Pam Killoran hristopher is a happy, easy going, fourteen- year-old who has little recollection of the trauma he’s endured and overcome. His battle with intractable seizures began when he was Conly six months old, where his first EEG revealed that he had a rare form of epilepsy called, Infantile Spasms. The seizures continued for over a year in spite of numerous anti-epileptic drugs, which included daily injections of steroid shots, and finally achieved seizure freedom using one of them. Sadly, just before his third birthday, the seizures returned, only this time the EEG showed Lennox Gastaut, which is a difficult to treat seizure syndrome that is accompanied by significant developmental delays and behavior disorders. The diagnosis shattered our dreams for Christopher’s future. His seizures quickly stole the skills that he and his therapists (physical, occupational, speech) worked so hard to achieve. Daily seizures made it impossible for him to be in Christopher Killoran day care -- we had to hire a caretaker to watch him while we worked. Our jobs, friendships and marriage suffered. As difficult as it was to get out of bed some at our first appointment made us feel as though they mornings, Christopher’s courage and endurance gave had been with us the entire journey. us the strength and determination we needed to once again seek treatment options and to reach out to Christopher’s recent annual three-day EEG showed parents who were going through similar experiences. “potentially epileptogenic abnormalities”, primarily at night. It was disappointing to learn as he had My desperate search for answers led me to the received his first normal EEG last year. We were Charlie Foundation, which promotes the Ketogenic hoping for another “clean” EEG so that we could Diet as a treatment option. Although we live in close the door on epilepsy. The fear of seizures New York, we were directed to a Keto Dietician in returning paralyzed me until our appointment with Dr. the Children’s Hospital of Wisconsin. Christopher Devinsky. continued to seize on the diet, but it was an opportunity to wean him off of the three debilitating drugs he was on. After a few months on the diet, his neurologist recommended a dangerous drug that was associated with fatality. We knew seizure control He said, “Christopher’s EEG was critical and decided that it was better to take a chance than to watch our son slip further away from is like clouds in a beautiful us. Christopher became seizure free within days. blue sky. It could rain but then During the next few years, Christopher worked hard again, it could continue to be to regain the skills he had lost and learned new skills that he hadn’t had a chance to acquire earlier. sunny. Christopher’s academic Seizure control and hard work paid off - he went from being in special education classes with an aide in and emotional progress is elementary school, to the honor roll in sixth grade. He transitioned from an Individual Educational Plan incredible. You have much to (IEP) to a 504 Plan that gave him extended time for tests and assistance with class notes. He also be grateful for.” progressed socially; he made friends and participated in after-school activities. The information about Christopher’s EEG hadn’t In 2011, Christopher’s neurologist transferred to changed during that appointment but my perception California and although it was a difficult decision did. I realized at that moment that Christopher will because we finally found a doctor that was able to most likely have to deal with epilepsy for the rest of help us, we decided it was time to find a neurologist his life, but as long as it remains manageable he can closer to home – especially because Christopher have an amazing, wonderful future. This unwanted was entering puberty and changes in hormones journey has taught me a great deal about compassion can trigger seizures. I did extensive research on and acceptance, but also about the importance of epileptologists and learned that Dr. Orrin Devinsky never giving up. at NYU Langone Medical Center was well known and respected for dealing with intractable seizures. For more about Christopher, visit Dr. Devinsky and his team made the transition easy. www.christophersrainbow.com Their knowledge of Christopher’s history and the manner in which they spoke directly to Christopher 9 2016 FACES GALA RECAP
By Luis Valero
he NYU Langone Comprehensive Epilepsy Center’s FACES Gala 2016 was held at Pier Sixty at Chelsea Piers on Monday, March 7th. Harrison Ford, acclaimed actor and film Tproducer, served as gala chair and Laura Gould Crandall, MA, research scientist, Department of Neurology and co-investigator of the Sudden Unexplained Death in Childhood (SUDC) Registry and Research Collaborative at NYU Langone was the honoree. Melisa and Josh Fluhr were the auction chairs, and C. Hugh Hildesley stepped up once again as auctioneer. More than 800 guests attended and the gala raised over $5.4 million.
Laura Gould Crandall recounted how her inexplicable personal loss took her on a journey toward creating a program to improve research and help families who have suffered losses similar to her own. Her tenacity and dedicated efforts led to the signing into law of the Sudden Unexpected Death Data Enhancement and Awareness Act by President Obama on December 18, 2014. Laura’s work bears significant importance for epilepsy, because a third of SUDC cases have a history of febrile seizures.
Helen Pires, speaking as the voice of grateful families and patients, recounted her son Marshall’s journey, then both she and Marshall expressed their gratitude to NYU Langone and the Comprehensive Epilepsy
The evening’s program commenced with inspiring remarks by Robert I. Grossman, MD, the Saul J. Farber dean and CEO of NYU Langone, Dr. Orrin Devinsky, Harrison Ford and his daughter Georgia Ford. Mr. Ford’s words,“Nine years ago my daughter was admitted to NYU Langone to be treated for epilepsy, and she has not had a seizure since the day she left. My family and I are grateful for Dr. Devinsky’s help and all the support that FACES provides for those who suffer from epilepsy and seizures,” sparked worldwide attention, shining a spotlight on the timely and critical issue of epilepsy awareness. While bidding on the Han Solo Jacket was a special opportunity to own a piece of Star Wars history, what was really more meaningful was knowing that the funds would be supporting an important cause. The work that Dr. Devinsky and FACES have been doing in research, education and providing services for patients and families is truly improving the lives of those living with epilepsy. As a Center’s doctors and medical staff for helping to improve the quality of his life. scientist myself (although in a different field), I’m very happy that I could play Feverish bidding on both the silent and live auctions, a small role in supporting their work. and the live appeal for mission and program support, yielded an unprecedented outcome. The frenzy did May the Force be with them, always. not end that night. During Mr. Ford’s remarks, he announced the donation by Lucas Films of the “Han — Mehran Sahami Solo Leather Jacket” from the recent Star Wars: The Force Awakens blockbuster. This coveted iconic autographed memorabilia sold for a whopping The FACES community’s overwhelming support, $191,000 to Mr. Mehran Sahami. Overall, combined ranging from attending the event, placing ads in the totals from the auctions, live appeal and sale of the digital journal, giving donations, purchasing auction jacket were record-breaking -- over $1.5 million! items, and lending a hand as volunteers, made FACES Gala 2016 another memorable success! freshFACES 2015 RECAP
By Marisa Maltese
ur 2015 freshFACES event welcomed The evening commenced with a thrilling live over 300 guests to enjoy an evening of auction that featured prizes like a Carnival cruise, a refreshments and entertainment supporting helicopter tour of NYC, an ESquared Hospitality the mission of FACES. dining experience and more! Over $150,000 was O raised for FACES, which directly impacts the epilepsy Dr. Orrin Devinsky welcomed supporters, community. Join us for this year’s event on Thursday, highlighting the transformative research and October 6th at Current at Chelsea Piers! educational programs that are funded by FACES. Karyn and Kevin O’Brien shared their inspiring http://nyulangone.org/give/events/freshfaces-2016 journey as caregivers to their son Liam, who recently participated in a clinical trial at the Comprehensive Epilepsy Center. Their heartfelt words truly captured the essence of the evening and their experience gave hope to all those in the room.
12 PARENT PANEL AT THE 2016 FACES EPILEPSY CONFERENCE
By Eric Modell
ttending our first Epilepsy Conference in April of 2016, we were curious to hear what the Parent Panel would offer. We knew of the Parent Network, and were grateful for its Aexistence; as Peggy Guinnessey had helped us adjust to the world of a child with epilepsy by introducing us to an experienced parent (and co-founder of The Parent Network, Kate Picco) to speak with shortly after we first learned of our son’s diagnosis in early 2015.
the individual experiences that we have are similar and bind us together, creating the feel of a real community where everyone can relate to one another. The feeling of being among people who understand, and can relate to the difficulties of raising a child with epilepsy warmed my heart, as I had come to feel that we were alone in our world. I now knew that was not the case. A quick glimpse at my wife, tears in her eyes and a smile on her face, and I knew that she felt as empowered as I did.
The panel began with an introduction of panelists, each of whom was a mother who shared the story of their child, and the struggles their families endured as they learned to cope with epilepsy in their lives. With absolute honesty, these three courageous mothers shared every heart breaking detail with a room full of complete strangers. While these mothers spoke about the time before their children were diagnosed, the fear of witnessing their first Grand Mal seizure, and the process of learning about medication, and their side effects, and the daily struggles with treating epilepsy, there was not a dry eye in the room. Each mother also shared their child’s progress and spoke about the future with an optimistic glimmer of hope in their eyes. The sense of community has stayed with both of us since that day, and as I (for one) reflect back to the As my wife and I listened to the moms speak, we things we took away from the Epilepsy Conference found that we had so much in common. We quickly and specifically The Parent Panel, I am thankful for learned that while everyone’s story is different; the opportunity to meet these moms, and hear their stories and the reminder that we are not alone as we travel down this path that is epilepsy. I am thankful for the strength given to me by each of them, to endure my own struggles of having a child with epilepsy; thankful for the reminder that there is hope for a better future for our son, and everyone who suffers from epilepsy.
In this life, some days are so challenging, it is hard to find the strength to keep moving forward. Armed with the knowledge that there is a network of people who know the difficulties of living with epilepsy and are willing to try to help, provides the added strength needed to pick ourselves up and be there for our loved ones.
13 A MARATHON FOR HOPE
By Michael Johll
he events that have led me to this point are ones I never fathomed would occur. I am representing TeamFACES in the TCS NYC Marathon this November. This run will be Ta capstone to a series of events that have come to define my family’s life. Epilepsy entered our lives in 2003 when my wife, Wendy, had her first seizure at 28. Wendy’s seizures were incorrectly diagnosed as stress responses until October of 2007.
Our family’s hope was restored when we went to NYU Langone Medical Center. Under the care of Dr. Orrin Devinsky, we were able to conceive our second child, disproving that all women with epilepsy and on medication are not able to have children. Subsequently, Dr. Werner Doyle performed brain surgery on Wendy, which has resulted in seventeen months of being seizure free. NYU Langone Medical Center absolutely changed our lives for the better. Wendy, Samantha, Gregory and Michael Johll Now, I [with the support of my family] will embark on the 26.2-mile journey to help fundraise for the doctors and caregivers that dedicate themselves to We are dedicating this run to all the caregivers of Finding A Cure For Epilepsy and Seizures [FACES]. As people with epilepsy and seizures. a family, we are grateful for FACES and the people we have met within this community. To learn more about Michael’s journey or to support his fundraising efforts, visit this link: https:// www.crowdrise.com/FACESNYC2016/fundraiser/ Words of advice that will carry michaeljohll me through the race come from my daughter Samantha, age 8, “Daddy, never, never, never give up”.
INTRODUCING THE FACES YOUNG PROFESSIONALS SUPPORT GROUP
By Lindsey Drewry, LMSW
ACES Young Professionals Support group Medical Center. The meetings are currently held was established in November 2015 to provide once a month in the evening at the Medical Center a forum for young adults with epilepsy to and over time the group members have developed connect with each other and provide mutual camaraderie with one another. The discussions are Fsupport. The FACES community recognized the interactive with agendas created by group members, importance for young adults to come together and and topics typically vary. The group sessions provide have an opportunity to share their life experiences a supportive environment in which members are able with others who may have similar circumstances. to determine their level of comfort in participating in Group participants are affiliated with NYU Langone the group discussions. Medical Center and referred by FACES and the interdisciplinary team at NYULMC Comprehensive The group is open to new members and if you are Epilepsy Center. interested in obtaining more information please contact FACES at 646-558-0900. The group is facilitated by Lindsey Drewry, LMSW, who has been a social worker at NYU Langone 14 THE PURPLE SPOON PRESENTS: RECIPES EVERYONE WILL LOVE
By Pegah Jalali Creamy Beany White Bean Dip Easy 3 Ingredient Homemade Chocolate Bars
Ingredients: Ingredients: • 1-2 garlic cloves, sliced (depending on how • 1/4 cup coconut oil (measure after melting) garlicky you like it) • 1/4 cup cocoa powder or cacao powder • 2 sprigs of rosemary • 2-3 tbsp maple syrup or honey • 0.25 cup olive oil
• 1.5 cups (~15oz) Cannellini beans Recipe: • 0.5 cups + 2 tbsp roasted unsalted almonds, 1. In a small bowl, whisk all ingredients well. Make • 1/2 -1 tsp salt to taste sure the coconut oil is melted and a runny liquid. Make sure there are no lumps in your mixture. It • water should only take a minute.
2. Pour the mixture into molds or a parchment lined Recipe: baking tray and pop into freezer. If you use chocolate bar molds, it should take about an hour 1. Heat sliced garlic and rosemary in 1/4 cup olive for everything to firm up. If you use something oil for a couple of minutes, turn off the heat & let larger, it may take a bit longer. the garlic and rosemary infuse in the oil for a few minutes. 3. Optional step: can top with nuts or dried fruit 2. Add rinsed & drained Cannellini beans to high before you put this in the freezer for extra variety. speed blender + 1/2 cup almonds + salt to taste.
3. Remove garlic pieces and rosemary from olive oil (with a strainer or if the pieces are big with a spoon or fork) & add the oil to the beans & almonds. Blend on high until creamy.
4. Add water to smooth out mixture, start with ~1/4 cup until you reach desired texture.
5. Top with 2tbsp almonds.
6. Optional: You can also add fresh squeezed lemon to the dip.
7. Serve with crackers or veggies.
15 WONDER ABOUT NEUROSURGERY?
he Comprehensive Epilepsy Center (CEC) is performed through smaller incisions with better is one of the largest epilepsy centers in the accuracy due to advancements in neurosurgical United States for adults and children. During technology. For patients who are considered the the past six years, NYU Langone surgeons best candidates for surgery, about 90 percent will Thave performed more than 250 brain surgeries for have complete seizure control after surgery with children with epilepsy and more than 400 brain their medication. Patients with more complex surgeries for adults with epilepsy. The average age epilepsy types, may have a 50 percent improvement for children having surgery is five years old; the in seizures after surgery. In total, about 65 percent average age for adults is 30 to 35 years old. Due to of those who have had epilepsy surgery at NYU our tremendous success treating children and adults Langone become free of seizures. who were often not considered surgical candidates by other centers, the CEC has earned national and international reputation for treating people with the Types of cranial epilepsy surgery most challenging conditions, and has established an include the following: exceptional record of safety and efficacy. The goals of epilepsy surgery are to identify, localize and remove malfunctioning areas of the brain Temporal Lobe Resection: without injuring healthy brain tissues or neurologic the most common surgical procedure for epilepsy functions. To accomplish this, NYU Langone is the removal of a small portion of the temporal epilepsy specialists first identify the areas of the lobe during a procedure called a temporal lobe brain that are involved with the seizure network resection. More than 80 percent of people who have or region of onset. This process is referred to as a this surgery become seizure-free or enjoy a marked preoperative workup. During a preoperative workup, improvement in seizure control. Most people need your doctor orders tests to help define the epileptic less antiepileptic medication after surgery, and and healthy brain areas and determine if a person about 25 percent of people who are seizure-free can is a surgical candidate. The tests your doctor will eventually get tapered off antiepileptic medications. recommend depends on your individual symptoms and seizure type(s), but always includes video electroencephalography (EEG), which is performed in the hospital. The goal of this test is to record Corpus Callosotomy: the actual seizures so they can be diagnosed and is a surgical procedure to split the connection characterized. Other important testing often includes between the right and left sides, or hemispheres, brain imaging scans (MRIs), and tests of language of the brain. This slows down the communication and memory function. of electrical activity between the two halves of the brain that can cause generalized seizure activity. Cranial Epilepsy Surgery Although this procedure doesn’t prevent seizures Intracranial epilepsy surgery may consist of a single from occurring altogether, it decreases their severity. procedure to remove brain tissue involving seizures, Surgeons perform this technique in people who or it may require two surgeries. If two procedures are have sudden “drop” seizures, including the tonic needed, the neurosurgeon first implants electrodes and atonic seizures experienced by people with on the brain for monitoring and recording seizure Lennox-Gastaut syndrome. These seizures can often activity. During another surgical procedure about cause falls resulting in injuries. Corpus callosotomy one week later, the doctors remove the electrodes helps reduce the severity of drop seizures. Seizure and the brain tissue that monitoring has determined frequency is reduced by an average of 70 to 80 to be involve seizures. Cranial epilepsy surgeries are percent after a partial callosotomy and 80 to 90 performed in the hospital with general anesthesia percent after a complete callosotomy. With a partial (patient is asleep). People typically stay in the callosotomy, about 1/3 of the back portion of the hospital for about 4 to 10 days, depending on which corpus callosum – a thick band-like membrane of type of surgery is recommended. At NYU Langone, nerve fibers that separates the two hemispheres of epilepsy surgery is much less invasive than it was the brain—is left intact. 20 years ago. Very little hair is removed and surgery
16 Lesionectomy: Recovering from Surgery: if doctors find that a person’s recurrent seizures are after cranial epilepsy surgery, most people are out caused by a specific abnormality in the structure of of bed and walking the day after surgery and can go the brain, also called a lesion, they may perform a home in about 3-4 days after the procedure. Most can procedure called a lesionectomy to remove it. For return to work or school four to six weeks after that. many people, the procedure results in complete When discharged from the hospital people are able seizure control. to dress, feed, and wash themselves. Generally, they may feel tired, lack endurance and require rest breaks during the day for the first week or two. Sleep–wake cycles may be altered but this returns to normal after Hemispherectomy: about a week. Some people only need over-the- involves disconnecting and sometimes removing counter pain relievers after leaving the hospital, but a portion of one side, or hemisphere, of the brain the clinician will prescribe a stronger pain medication from the rest of the brain. This procedure is only if needed. Staples are used to close incisions in the considered for people who have severe epilepsy, scalp and are removed in 7 to 14 days, depending on for those who have Rasmussen syndrome, and in the number of surgeries. This is a simple procedure people whose seizures arise from only one side of done during the follow-up office visit. You are the brain and have poor function in that hemisphere. allowed to begin washing your hair five days after the The best candidates for this procedure are typically procedure, even if the staples have not been removed young children who already have severe weakness yet. and a loss of sensation and vision on one side of the body. The side of the brain that is to be disconnected functions very poorly and often impairs the functions of the other side of the brain. When this procedure is performed in young children, the opposite hemisphere of the brain may compensate for the loss. More than 75 percent of people who have a hemispherectomy experience complete or nearly complete seizure control.
Multiple Subpial Transection: is a procedure used to control focal seizures originating in areas of the brain that can’t be removed safely. This procedure involves making a series of shallow cuts, called transections, in an area of the brain called the cerebral cortex. Because of the complex way the brain is organized, these cuts are thought to interrupt some fibers that connect neighboring parts of the brain. But they don’t appear to cause long lasting impairment in the critical functions that originate in these areas. Multiple subpial transections can help reduce or eliminate seizures arising in vital, functional areas of the brain. Transections have been used successfully in children with Landau-Kleffner syndrome, but it is uncertain whether this procedure can lead to long-term seizure control.
17 SEIZED: INSIDE THE MYSTERY OF EPILEPSY
By Amy Moritz
hen I was 13, I was diagnosed with epilepsy. It arrived one day, without warning while I sitting in my high school science class and it came in the form of Wa Grand Mal seizure. It would change forever my life and that of my entire family – my mother, father and brothers – as well. Many of us living with epilepsy, especially during our years as teenager, often feel insecure and in my case, unworthy of being loved.
hope that it raises an awareness and an understanding to a disorder that still carries a misunderstood stigma. The film that would tell the personal stories of individuals who suffer from epilepsy, as well as the stories of their families and the doctors searching for a cure.
Two years after we began this journey, SEIZED: INSIDE THE MYSTERY OF EPILEPSY, its airing nationally on the local PBS networks. By the time I reached my mid-thirties I had succeeded, through the help of my doctor, Orrin My journey with epilepsy has brought my family Devinsky, in controlling and eventually stopping my together in ways I never would have imagined. My seizures. As a mother of three beautiful daughters I mother sat on the board of FACES for years and after felt so blessed that the disorder that had dictated the she stepped down, I took over. way I lived for so long was now under control. It was so liberating.
About 6-years ago I began a relationship with Peter Schnall, a documentary filmmaker. It began as a blind-date and has since evolved into a long, loving courtship. I don’t exactly remember when I first told Peter I suffered from epilepsy, but I’m pretty sure it wasn’t on that initial date. That early adult guilt still lived within me. Soon though we began to discuss my history of the disease. Peter was truly taken by how little he knew or understood about epilepsy. Eventually, Peter and I began to discuss the idea of producing a documentary film about epilepsy in the Still, I know all too well that I can never forget the disease that I carry inside of me. In February of this year I suffered several grand mal seizures for the first time in over 10 years – six of them in one night to be exact. But this time, Peter was there, holding me and guiding me through that horrific moment. My story and the story of millions of others who live with epilepsy are stories that need to be told, that need to be understood. Right now, tens of thousands of viewers across this country are watching the one- hour documentary SEIZED. It is just the beginning, but it is a good start.
18 DIFFERENT AGES BUT THE SAME DISEASE
Book review by Ali Nicklas
hen I first heard about Kristin Seaborg’s With continued knowledge and awareness, both memoir, The Sacred Disease: My Life in and out of the FACES community, I believe that with Epilepsy, I was intrigued because people will begin to view epilepsy as a disease only of the commonality I shared with her. and not as a defining characteristic. Kristin, myself, WKristin chronicles her fight for a seizure-free life and everyone else who is diagnosed with epilepsy or that results in acceptance and hope. After receiving seizures, are individuals with epilepsy but also are her diagnosis at eighteen-years-old, and combating individuals with passions, dreams, and desires to live the seizures with medication, she learned how to life to the fullest. embrace her condition. Her experience with epilepsy provided her later on with a unique perspective as an aspiring pediatrician. Being a patient viewing things from the other side enriched her knowledge while in medical school.
Similar to Kristin, my epilepsy was diagnosed when I was eighteen, during my freshman orientation at college. Kristin and I, both as students, faced anxiety and uncertainty about what our futures held. Not allowing our condition define us, we embraced each day with excitement and learned to live with the unknown about future seizures. We wanted to pursue our passions and not let epilepsy control us. It’s nice to see that Kristin did, in fact, become a pediatrician and currently has a private practice. Even now, she periodically has seizures but tries to reduce the stress in her life to avoid them.
Kristin’s memoir reminds me that epilepsy doesn’t have to define you as a person. I am a graduate student, getting my masters in speech language pathology, and have been seizure-free for four years. Unfortunately, there is a stigma associated with epilepsy, which prevents many people in discussing their experiences. Having Kristin’s to read is a great step in the right direction towards raising awareness about epilepsy and seizures. Hopefully her story will help diminish the stigma. In other words, if people began to view epilepsy as a disease rather than who someone is, the stigma could disappear.
It personally took me a few years to accept that I have epilepsy. That acceptance wouldn’t have been possible without the enormous support and positive thinking of Dr. Orrin Devinsky. As Kristin writes, to change the stigma with epilepsy, the process first starts with the amazing doctors who care for us.
‘…the providers who harbored the knowledge and empathy that we needed the most…’
19 FACES FUNDED RESEARCH INITIATIVES
Design And Implementation analysis of a full array of scalp EEG electrodes and Of Real Time Seizure sacrifice specificity for sensitivity. While this is a Detection Algorithms Using reasonable approach in the epilepsy monitoring unit Single Channel EEG where these algorithms aid data review and alert PI: Daniel Friedman, MD staff of seizures, even a modest significant false detection rate (1 per hour) in chronic use would Because seizures can interfere with generate excessive data to verify and lead to alarm awareness and memory, people fatigue. Instead, highly specific and sensitive new with epilepsy are often poor reporters of their own algorithms are needed that can detect seizures from seizures. This presents a significant challenge to a small number of wearable EEG sensors that are patients, family members, clinicians and researchers feasible for long-term use. We have been developing because seizure rate is the marker of disease seizure detection algorithms designed to detect activity that informs changes in therapy or driving seizures in recordings from just 2 strategically placed restrictions. In addition, there is some evidence that electrodes, which could be incorporated in a long- unrecognized seizures, especially nocturnal tonic- term, non-invasive or minimally invasive device. In clonic seizures, may increase SUDEP risk. Therefore, this preliminary project we will continue to work to there is a need for reliable and accurate seizure develop novel seizure detection algorithms using detectors that patients can use at home to quantify machine-learning tools that are able to accurately seizure activity and alert caregivers of ongoing detect seizures from single EEG channels. We will seizures to improve disease management and safety. design and test detection algorithms that can be Wearable sensor and portable computing power tuned to the specific seizure signature of the patient has evolved significantly such that long term, real with minimal input from the patient or clinician. time measurement and analysis of physiological Finally, we will develop and test a custom program to signals such as EEG is practical. However, long apply these detectors and tuning algorithms in real term recording of EEG signals for months to years time to patients undergoing surgical evaluation in the can lead to a massive amount of data that has to epilepsy monitoring to test their performance. Such be analyzed to identify seizures, preferably in real a program can be ultimately run on a smartphone or time so physicians, patients and caregivers can act embedded microprocessor in future generations of upon them. Current clinical EEG systems often come wearable EEG Sensors. with seizure detection algorithms but many rely on
A Pilot Study Of Tms This project seeks to develop a technology with Enhancement Of Fmri significant therapeutic potential for memory Based Associative Memory remediation: non-invasive transcranial magnetic Networks In Healthy Subjects stimulation (TMS). TMS involves a series of pulses And Epilepsy Patients of magnetic fields to the scalp surface, which may excite underlying brain activity. A recent study PI: Anli Liu MD MA, Heath Pardoe demonstrated that TMS guided by functional PhD (Co-PI) MRI (fMRI) imaging can increase activity in the Memory difficulty, slowed processing speed, hippocampus, a structure critical to long-term and attention deficits are the most common memory storage, in healthy subjects (Wang, Rogers complaints of epilepsy patients. Problems with et al. Science 2014). This project will explore memory, particularly for long term storage of whether repeated TMS guided by fMRI can be used verbal information and events, is the most common for memory remediation in patients with well- cognitive complaint in patients with temporal lobe controlled temporal lobe epilepsy. epilepsy and other partial onset epilepsies.
20 Stress, Anxiety, & Temporal quality of life. We intend to analyze objective and Lobe Epilepsy: Efficacy subjective measures of stress and anxiety in both Of A Mindfulness Based healthy subjects and in those with TLE. Salivary Intervention Program alpha amylase (sAA) and cortisol (sCort), spectral PI: Steven Pacia, MD and scalp EEG, and standardized neuropsychological Melissa Russell, N.P. surveys will be collected at baseline and following exposure to a medically supervised stressor, the Trier Mindfulness Training (MT) has Social Stress Test. We will evaluate the efficacy of emerged as an important non-pharmacological tool a four-week phone-application based MT program in to help reduce the impact of psychological stress reducing subjective and objective measures of stress, on the brain and body. Patients with temporal and improving self-reported quality of life. The lobe epilepsy (TLE) consistently report stress and results will serve as pilot data for a larger study of the anxiety as major influences on seizure control and effects of MT on seizure frequency in TLE.
Neuroanatomical Age themselves. In this study we address this problem Prediction As A Marker by using magnetic resonance imaging (MRI) to For Seizure-Related Brain compare the brain structure of individuals with Changes recent onset epilepsy with people that have severe, PI: Heath Pardoe, PhD treatment resistant epilepsy. We will use advanced image analysis of brain scans to determine if ongoing One of the ongoing problems of seizures cause accelerated aging of the brain. The epilepsy research is determining outcome of the project will be a method for assessing if structural brain changes associated with epilepsy if medical treatment is protecting epilepsy patients exist before seizures, or are caused by seizures from seizure-related brain changes.
EPILEPTIC PHENOTYPE use a mouse model where the gammaCaMKII is not OF THE GAMMACAMKII present (gamma CaMKII knockout) to investigate KNOCKOUT (KO) MICE the seizure tendency on these animals. Electrical PI: Alejandro Salah, MD, PhD activity of the brain will be studied by performing long-term video-EEG. The EEG procedure tracks and Preliminary data from our records brain wave patterns in the living animals laboratory suggests that the levels and will be assessed at baseline and in response of the protein kinase gammaCaMKII to seizure inducing (pro-convulsant) drugs, such as in patients suffering from autism is dramatically kainic acid. These experiments are critical for a better low compared to normal people. Since autism understanding of the relationship between autism often co-exists with epilepsy, I am proposing to and epilepsy.
21 ONGOING RESEARCH PROJECTS
The Human Epilepsy Project (HEP) The registry works closely with organizations such as the Epilepsy Foundation, Danny Did Foundation, The biological basis of epilepsy is unknown in CURE, and the American Epilepsy Society, and has most patients. As a result, our ability to predict the also received support from the American Epilepsy disorder’s severity, the effectiveness of different Society, NYU Langone’s Clinical and Translational therapies, the likelihood of treatment complications Science Institute, and Lundbeck. Additionally, we or the possibility that the seizures could stop is are partnering with Autism Speaks/ Autism Tissue limited. Program to study SUDEP in individuals with both The Human Epilepsy Project (HEP) was designed to autism and epilepsy. address these important constraints. HEP researchers With FACES’ backing, the NASR also pursues are collecting many types of data, including MRI statewide and countrywide collaborations with scans, electroencephalography (or EEG) readings, medical examiners. These efforts have produced and the results of blood and urine analyses in tangible results: a search for biomarkers that predict disease progression and outcomes. HEP is also creating an • Evaluation of all New York City medical examiner open-data repository of clinical information and cases of epilepsy-related mortality biologic samples for use in future studies that could lead to improvements in care. • Legislation introduced in New Jersey and Illinois mandates medical examiner education on SUDEP This seven-year prospective study comprises a and requires that epidemiology data pertaining partnership of 30 academic centers, foundations and to SUDEP and other epilepsy-related causes of industries led by the Comprehensive Epilepsy Center death be systematically collected and requests (CEC) at NYU Langone Medical Center. HEP will that next-of-kin enroll their relatives in the NASR so enroll a total of 500 patients with newly or recently as to augment the repository’s valuable collection diagnosed focal epilepsy. We have recruited over of bio specimens and clinical data. 250 patients to date and preliminary data reveal biological patterns for some patients that may be predictive of outcomes. For example, analysis of HEP MRIs suggests that about a third patient with newly diagnosed epilepsy have mild brain atrophy. Other data suggest for example that mood disorders are common in patients at time of diagnosis. This study has the potential to be one of the most important clinical studies in recent times. Sudden Unexplained Death in Epilepsy (SUDEP) SUDEP is the most common disease-related cause of death among individuals with epilepsy, claiming A group of seven medical examiners from the the lives of over 2,200 people each year in the U.S., National Association of Medical Examiners, seven mostly young adults. The Comprehensive Epilepsy Epilepsy representatives from NASR, Epilepsy Center (CEC), with FACES support, is spearheading a Foundation, SUDEP Institute and American Epilepsy series of studies on SUDEP geared towards learning Society and two representatives from Centers for more about the disorder and developing strategies to Disease Control and Prevention met in Chicago prevent it. to create a Guidelines Paper on Investigation and Certification of Epilepsy-Related Deaths. A paper will These studies are aided by the North American be published in the future and will appear in both the SUDEP Registry (NASR), which collects clinical data Medical Examiner and Epilepsy Journals to link these and tissues from patients who succumb to SUDEP two communities more effectively. and other unexpected causes of death. Created with FACES’s support the NASR involves the international collaboration of over 20 experts in epilepsy, epidemiology, forensic pathology, and cardiology.
22 In addition, the CEC has now become a member of Cannabidiol the National Institute of Health (NIH)-sponsored Treatment-resistant epilepsy severely impacts Center for SUDEP Research, a $27 million dollar, five- patients’ quality of life and increases the risk year collaboration involving 14 institutions in the U.S. of complications, such as physical injuries and and U.K. with a shared goal to understand the causes cognitive and behavioral problems, as well as sudden of SUDEP and identify strategies for prevention. The unexpected death. Many children and young adults NASR will provide tissue and DNA samples to the with treatment-resistant epilepsy experience both clinicians and scientists working at the Center for ongoing seizures and significant physical and mental SUDEP Research, and in that way will play a critical side effects from antiepileptic drugs. role in unraveling how genetics and brain chemistry contribute to sudden death in patients with epilepsy. We investigated the safety and tolerability of pure Cannabidiol (CBD) at varying doses in children and Interactions between the heart and young adults up to 30 years old with treatment- brain in people with epilepsy resistant epilepsy. Our primary aim was not to The heart and brain are each made up of electrically study the effectiveness of CBD in patients with active tissues, and their cells depend on a precise epilepsy. Rather, this preliminary study helped define balance of conducting proteins called ion channels appropriate dose levels for use in future studies that for normal activity. However, in the brains cells of will evaluate CBD as a potentially beneficial therapy. some patients with epilepsy, ion channel activity is Still, our study design included the collection of data abnormal. pertaining to CBD’s effect on seizure frequency. The preliminary results published in Lancet Neurology With colleagues in the Leon H. Charney Division of suggest that a randomized trial is warranted. Cardiology at NYU Langone Medical Center, we are investigating whether heart tissues in people with Based on the promising results of the expanded epilepsy are also prone to electrical misfiring induced access study, several double-blind randomized by faulty ion channels. We hypothesize that abnormal controlled studies of cannabidiol for treatment- electrical activity in the heart predisposes some resistant seizures in patients with Dravet and Lennox patients to cardiac arrhythmias and a higher risk of Gastaut syndrome gave been performed and sudden unexpected death in epilepsy. preliminary results will soon be available.
We have also embarked on a collaboration with the Framingham Heart Study, which is one of the largest and longest-running cohort studies examining risk factors for heart disease and stroke. Administered by the NIH Heart, Lung and Blood Institute, this multi-generational study has collected blood, brain imaging, electrocardiograms and other physiological measures from thousands of residents living in Framingham, Massachusetts since the late 1940s.
We focus on study subjects with seizures and examine the impact of epilepsy on cardiac health. In addition, we identify shared genetic risk factors for seizures in heart arrhythmias. Once complete, this work will become a permanent part of the Framingham Heart Study database, allowing us to examine relationships between epilepsy and dementia, as well as stroke and heart disease. It will also enable us to explore genetic contributions to epilepsy risk and consider the impact of physical activity on seizures.
23 THE FACES TEAM
Board of Advisors: Medical Committee:
• Todd Boehly • Jennifer Avalone, DO • Lawrence Davis • William Barr, PhD • Orrin Devinsky, MD • Judith Bluvstein, MD • Harry Falk • Aviva Bojko, MD • Anna Fantaci • Jocelyn Cheng, MD • Isanne Fisher • Orrin Devinsky, MD • Jacqueline French, MD • Werner Doyle, MD • Stewart Karger • Patricia Dugan, MD • Carolyn Kotler • Jacqueline French, MD • Ruben Kuzniecky, MD • Daniel Friedman, MD • Bill Lambert • Deana Gazzola, MD • Warren Lammert • Eric Geller, MD • Randi Levine • Rina Goldberg, MD • Howie Lipson • David Harter, MD • Veronica Mainetti • Biyu Jade He, PhD • Amy Pollner Moritz • Scott Hirsch, MD • Kate Cooney Picco • Mary Quick • Ranisha Patel Holmes, MD • Steven Spiegel • Amy Jongeling, MD • David Swinghamer • Sanjeev Kothare, MD • Lucas Van Praag • Ruben Kuzniecky, MD • Joseph Walsh III • Josiane Lajoie, MD • Leah Weisberg • Anli Liu, MD, MA • Michael Weisberg • Daniel Luciano, MD • William MacAllister, PhD • Daniel Miles, MD Staff: • Chris Morrison, PhD • Mangala Nadkarni, MD • Orrin Devinsky, MD – Founder • Siddhartha Nadkarni, MD • Pamela B. Mohr – Executive Director • Steven Pacia, MD • Luis Valero – Associate Director • Alcibiades Rodriguez, MD • Marisa Maltese – Event Manager • Andy Rodriguez, MD • Rebecca Kornstein – Project Coordinator • Heather Krol – Administrative Coordinator • Rebecca Scott, PhD • Peggy Guinnessey – The Parent Network • Blanca Vazquez, MD Coordinator • Amanda Yaun, MD
24 Inside Back Cover Back Cover
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