December & January 2013/2014
DECEMBER & JANUARY 2013/2014 FACES E-NEWSLETTER
- Creating An Epilepsy Documentary
- From Start To Finish- My Message To You
- CEC Spotlight: Patricia Traut, RN
- Hope Soap
- SUDEP Research Update
- Recipe Of The Month
- Tanya’s Trot For Epilepsy
SEASONS GREETINGS FROM OUR STAFF
Dear Friends of FACES,
Please enjoy this holiday edition of the Insight newsletter, which combines the December and January issues. We are so proud of our incredible accomplishments this past year. FACES held 7 well-attended Peace of Mind lectures that can be viewed on our website; hosted our first teen event at Dave & Buster’s; created the FACES College Scholarship Program for incoming freshmen; participated in the New York City ING Marathon for the first time with 7 runners raising over $67,000; reinvigorated our Steering Committee; had our most well-attended Game Day; held an educational and informative Epilepsy Conference; gave our Facebook page and website a new look; and laid the groundwork for a new Fall 2014 event – FreshFACES. In addition, the FACES Gala raised over $4.7 million to fund innovative research and community outreach programs. The NYU Comprehensive Epilepsy Center continues to provide world class care through our remarkable team of physicians and clinicians. Our daily updated social media sites bring us together by sharing personal stories and medical updates that keep us inspired and provide us with hope. There is much more to be done, but each day, we get closer to finding a cure.
We wish you and your loved ones a happy and healthy holiday season. Thank you for your continued loyal support.
The FACES Staff
1) CREATING AN EPILEPSY DOCUMENTARY
Imagine living with the knowledge that at any moment, with little warning, your own brain may betray you… Imagine coping with a condition that carries life-long burdens of mystery and shame… Now imagine fighting back – not yet wiping out the enemy, but pioneering new ways to manage, control and understand a potentially deadly disorder.
Production has begun for EPILEPSY (working title), a full-length documentary created by PARTISAN PICTURES and Peabody and Emmy award-winning producer and cinematographer, Peter Schnall.
The film will take viewers inside the story of epilepsy as never before, through intimate portraits of people struggling with the disorder – patients who know epilepsy from inside-out and medical detectives working to crack the code to triggers and new treatments.
Both lucid and emotional, EPILEPSY will unravel the secrets and the sensations of an affliction that has haunted human experience for millennia.
As one patient put it, “Epilepsy is an equal-opportunity life-destroyer.” It afflicts infants and newborns, budding adolescents, and men and women of all ages.
The sheer numbers are staggering: 2.8 million Americans and 50 million people worldwide live with epilepsy. In the United States alone, epilepsy afflicts more individuals than Multiple Sclerosis, Parkinson’s and AIDS combined. As many as 50,000 people die every year from epilepsy-related incidents: prolonged seizures, accidents, suffocating from a seizure while sleeping, and tragically even suicide.
The fight is only complicated by the inconvenient fact that “epilepsy” is an umbrella diagnosis, covering hundreds of types of seizure disorders – with many causes.
Thanks to medical advances, today two-thirds of people with seizures can bring them under control. But ironically, advances in managing and therefore masking the impact of seizures may have only contributed to enduring attitudes and ignorance about the disease, leaving the general public largely uninformed – or worse, misinformed – about the causes, processes and effects of epilepsy.
The goal of EPILEPSY the film is to educate and enlighten a national audience, to draw viewers deep inside the human experience of epilepsy, and open their eyes to the medical challenges and current scientific knowledge of this widespread yet often misunderstood disorder.
The film will weave together the doctors on the front-line of research with people living with different versions of the disease. These profiles will be intimate and inspirational portraits of real people in the midst of battling a formidable and dangerous enemy – every day of their lives. Some struggle to find the right medication, others resort to surgery, and a few will step into uncharted territories of clinical trials, exotic diets and futuristic electronics, as they seek to claim a daily life that the rest of the world often take for granted.
These individual profiles, the backbone of the film, will be reinforced by creative graphics and animation. These tightly focused and visually compelling sequences will provide vital background information and explore new breakthroughs in scientific understanding and medical treatments.
In addition, a “chorus” of other voices and faces will amplify the power of the core profiles and broaden the film’s message and appeal. The film will bring together people of different ages and all walks of life – all living with epilepsy – and ask them to speak simply and directly about their lives, their struggles, and their hopes and dreams. Briskly edited and interspersed throughout the film, these signature “chorus” montages will give voice to the multitudes coping with the lifelong challenge that is epilepsy.
Weaving these elements together, EPILEPSY the film, will give viewers a new and more intimate recognition of what epilepsy “means” — and a leave them with a newfound appreciation for the patients, doctors and medical researchers who are battling a disorder that touches the core of what it means to live and control your own life.
PROPOSAL FOR THE PUBLIC TELEVISION BROADCAST
PARTISAN PICTURES and PBS station TPT [www.tpt.org/ ] have begun initial discussions regarding the broadcast and distribution of the EPILEPSY documentary. Educational outreach material and a website dedicated to the topic are also being considered.
PLEASE CLICK THE ABOVE PHOTO TO WATCH THE LECTURE VIDEO TITLED CANNABIDIOLS: POTENTIAL USE IN EPILEPSY AND OTHER NEUROLOGICAL DISORDERS BY ORRIN DEVINSKY, MD
The overall goal of the study is to research the safety and tolerability of pure cannabidiol (CBD) at different doses in children and young adults up to 30 years old with treatment-resistant epilepsy. This initial study is not primarily aimed at assessing the effectiveness of CBD, but data on seizure frequency will be carefully collected to get some information about the efficacy of CBD in these individuals. Treatment-resistant epilepsy is a serious condition that negatively impacts patients’ quality of life. Those with treatment-resistant epilepsy are at a higher risk for a variety of complications such as physical injuries and cognitive and behavioral problems, as well as sudden unexpected death in epilepsy (SUDEP). Most patients with treatment-resistant epilepsy, despite trials of multiple combinations of AEDs, have no FDA-approved treatment options left. And many of these children and young adults experience both ongoing seizures as well as significant physical and mental side effects of antiepileptic drugs. This study will look specifically to enroll patients with drug-resistant childhood onset epilepsies such as Dravet Syndrome and Lennox-Gastaut Syndrome, which are both common forms of treatment-resistant epilepsy.
3) FROM START TO FINISH- MY MESSAGE TO YOU
By: Richard Shane
Dear Friends with Epilepsy,
I write this as someone who for 22 years had 3,000 seizures and then two brain surgeries which ultimately cured me of the disorder.
RICHARD SHANE FINISHING
WITH PRIDE AND JOY
Yesterday, I ran and finished my first marathon on an ankle damaged three weeks ago and was told not to run by an orthopedist. It was my first run since the injury and the training I did was limited to a machine which did not impact my ankle. I seriously considered not running. Pre-injury my goal was to break five hours; post-injury I hoped to make it to Manhattan so I could limp home.
With a heavily taped ankle, I finished the race at 4:59 minutes. The point is this....It's a choice- who is going to win? Epilepsy (and a damaged ankle) or me? People with epilepsy may have to work a little harder than those without the disorder (and maybe not as much as people with other issues), but we can do it! Whether a marathon, school exam, climbing the corporate ladder or being a great person- it's a choice! If we choose to win, it's doable.
I ran the marathon with my FACES shirt and great pride to hopefully inspire those with epilepsy. We can accomplish whatever we want. I knew I had to finish; my heart is stronger than my brain. Everyone has their challenge. Take it head on and win. I never hid having epilepsy and wore with great pride, my shirt reading "Finding a Cure for Epilepsy and Seizures". Epilepsy does not have to prevent us from achieving our goals. I surpassed mine yesterday with the challenge of having an injured ankle and not epilepsy.
FACES CANNOT THANK OUR RUNNERS ENOUGH FOR THEIR COMMITMENT TO OUR MISSION AND TO THE FAMILIES OF OUR EPILEPSY COMMUNITY.
4) CEC SPOTLIGHT: PATRICIA TRAUT, RN
When I was asked to write my biography, my first thought was where do I start? I grew up on a farm in Northern Ireland and I am one of ten children, who was raised during “The Troubles” when Northern Ireland was trying to regain its independence from England and be part of the “free state” – a united Ireland. During my early nursing career years in Ireland, every patient admitted into the hospital’s casualty department (Emergency Room), was a bomb victim and I thought that must be a way of the world until I started my travels.
After completing my nursing degree and Geriatric Nursing Certificate at the Belfast City Hospital, I traveled extensively throughout the world. Some of the countries I worked in are Canada, Scotland, England, Saudi Arabia and Australia. After gaining these experiences, I settled in the “center of the universe” as people know it- New York.
I started my New York nursing experience at the NYU Hospital for Joint Diseases (HJD). At the time, I had just completed an Orthopedic Nursing and Spinal Cord Injury Certificate in England and I wanted to put all my knowledge learned to good use. Being there for a year, a doctor from New Jersey came and changed my nursing career to an area I was unfamiliar with. Eight nurses (including myself) were sent to Mcgill University in Montreal, Canada to study epilepsy care for three months in anticipation of opening The Comprehensive Epilepsy Center on the 11th floor of HJD.
I have been at the NYU Comprehensive Epilepsy Center from the beginning. I continue to work with many of the same nurses, doctors and secretaries. I never would have imagined I would be here nearly a quarter of a century later, but life is full of surprises. I continue to learn from my colleagues and our patients. To be at the cutting edge of new developments, I know that I’m helping to make a difference in patient’s lives which is a great feeling at the end of each day.
5) HOPE SOAP
Jordan Dejong created Hope Soap in December 2012 to benefit others through utilizing all natural ingredients and to create an impact in the search to find a cure for epilepsy. Jordan was diagnosed with epilepsy when he was seven years old and has been dealing with it ever since. At this point in his life he feels as if donating part of his sales to FACES will provide others with comfort and secure the feeling of hope for the future of the condition. To date, Hope Soap has raised $400 for FACES!
6) SUDEP RESEARCH UPDATE
By: Sloka Iyengar, PhD
WHAT IS SUDEP?
SUDEP stands for Sudden Unexpected Death in Epilepsy. Death in SUDEP is non-traumatic and not caused by drowning. Death could be witnessed or unwitnessed; and a postmortem examination does not reveal an anatomic or toxicological cause of death. Up to 18% of people with epilepsy (nearly 2000 deaths / year in the US) suffer mortality due to SUDEP.
Although some behaviors such as intermittent use of alcohol have been proposed to contribute, the leading cause of SUDEP is uncontrolled generalized tonic-clonic seizures. Often, but not always, people who suffer mortality from SUDEP are found in the prone position and have experienced a generalized tonic-clonic seizure in the hours prior to death. Needless to say, when a person with epilepsy who is otherwise healthy dies of unknown reasons, the impact on caregivers and family is substantial.
The ultimate goal of preventing SUDEP can be attained by controlling generalized tonic-clonic seizures. Meanwhile, organizations like FACES, Citizens United for Research in Epilepsy (CURE), National Institutes of Health (NIH), Partners Against Mortality in Epilepsy (PAME) and the American Epilepsy Society (AES) have joined forces to conduct basic and clinic research to understand possible mechanisms behind SUDEP.
CAUSES OF SUDEP
The causes of SUDEP are multifactorial – they could be respiratory, cardiac and those involving the autonomic (involuntary) nervous system. For example, a seizure can lead to abnormal discharges in the respiratory center of the brain, leading to respiratory arrest. Similarly, a seizure can cause abnormal electrical discharges to reach the vagus nerve, causing the heart to slow down, or stop completely.
LEADS FROM RESEARCH
Abnormalities in neuronal or cardiac genes:
Research suggests that the causes of SUDEP may be genetic, and that genes critical for proper functioning of the brain and heart are possibly affected. These genes code for channels that regulate the motion of ions such as sodium (Na), potassium (K) or calcium (Ca) in and out of neurons (in the brain) or myocytes (in the heart).
Using animal models of SUDEP, researchers have found that neuronal genes like KCNA1 that codes for K channels and HCN2 gene that codes for transport of Na and K inside and out of neurons are implicated in SUDEP. When these genes were altered in animal models, researchers found that mice suffered mortality in a way similar to that seen in human cases of SUDEP. Scientists propose that alterations of these genes alter excitability of neurons, but how they cause mortality in someone with epilepsy is not fully understood.
Some information on how a dysfunction in neuronal genes can cause SUDEP can be gathered by studying Dravet Syndrome (DS). DS is associated with a high incidence of SUDEP, and is caused by a mutation in the SCN1A gene. This gene codes for a specific type of Na channels. In mouse models of DS, researchers found that tonic-clonic seizures can cause hyperactivity of the parasympathetic nervous system leading to bradycardia and asystole (absence of electrical activity in the heart), and ultimately, death.
Cardiac genes can also give us clues regarding SUDEP. A potential biomarker for SUDEP lies in the cardiac phenomenon called the long QT syndrome (LQTS). LQTS is characterized by an abnormal electrocardiogram (ECG) and subsequently, arrhythmias which can lead to sudden death. Similar to neuronal genes, abnormalities in certain genes that code for ion channels such as SCN5A gene that codes for Na channel and RYR2 gene (ryanodine receptor 2), that codes for a calcium channel have been implicated in SUDEP.
Once we understand more about these genes and their possible role in SUDEP, people with uncontrolled epilepsy can be urged to undergo genetic testing and take preventative measures. Also, these patients can be advised to obtain an electrocardiogram as part of their full evaluation. Genetic information can be mined, allowing us to build a database that tells us how important these genetic traits are in SUDEP.
Role of serotonin (5HT) neurotransmitter system in SUDEP:
Another potential clue lies in the serotonin or 5HT (serotonin) neurotransmitter system. Research suggests that the serotonin system may play a part that pertains to more than SUDEP: a dysfunction in the serotonin system can decrease the threshold to seizures, increase risk for comorbidity of depression in people with epilepsy, and could also make one susceptible to SUDEP.
The serotonin system is presumed to contribute to SUDEP by affecting the respiratory system. Serotonin is a neurotransmitter that controls arousal and breathing in a very complex manner: apnea (suspension of breathing) causes an increase in C02 and subsequently, a decrease in pH. This is sensed by serotonergic neurons that cause a state of arousal and stimulate ventilation. In people with epilepsy, it could be that a deficiency in the serotonin system leads to a breakdown of this physiological mechanism. In such a case, when a person has a seizure in bed in a prone position, post-ictal depression of 5HT neurons may not allow the person to respond appropriately by turning their head, or increasing their breathing (or both). Hence, administration of a selective serotonin reuptake inhibitor (SSRI) could be beneficial in SUDEP. To see if this was the case, researchers used a specific type of mice called DBA/1 mice. These mice are susceptible to SUDEP and form a good model system to study SUDEP in the laboratory. Researchers found that indeed, administration of fluoxetine to these mice afforded protection against SUDEP by reversing respiratory arrest. In an elegant example of how basic research done in rodents can be translated into humans, researchers found that in partial seizures in humans, SSRIs can reduce ictal respiratory dysfunction.
Role of adenosine neurotransmitter system in SUDEP:
Adenosine is a molecule that is important for a variety of physiological processes. The concentration of adenosine increases dramatically after a seizure, and it is thought to be a protective mechanism. However in some people with epilepsy, it could be that an abnormal buildup of adenosine leads to SUDEP. Researchers tested the hypothesis that prolonged seizures in mice (a human equivalent of uncontrolled generalized tonic-clonic seizures) would lead to an increase in adenosine levels combined with a decrease in adenosine clearance. By blocking an increase in adenosine using caffeine - an adenosine receptor antagonist - researchers were able to rescue SUDEP in mice, proposing that adenosine buildup could be a possible mechanism underlying SUDEP.
Hence, basic mechanisms underlying SUDEP is an area of active research. The hope is that once we understand these mechanisms, we can find ways of preventing unexplained death in people with epilepsy.
Sloka S. Iyengar, PhD is an epilepsy researcher, and is interested in the basic mechanisms that can cause groups of neurons to generate and sustain seizures. After a Bachelor’s degree in pharmacy in Ahmedabad, India, Sloka attended University of South Carolina School of Medicine for her graduate work, where under the mentorship of Dr. David Mott, she used electrophysiology to study epileptic circuits in experimental rats. She is now at the Nathan Kline Institute, New York, where she is examining how postnatal neurogenesis in the hippocampus can affect seizures and epilepsy in the lab of Dr. Helen Scharfman. In addition to epilepsy research, she also has a strong interest in epilepsy advocacy and education.
7) RECIPE OF THE MONTH
By: Dara Tannariello
KETO HOLIDAY COOKIES
Staying on your diet can be challenging during the holidays. All of the celebrations and sweets can be tempting, especially for our patients following one of the ketogenic diets. This month, we dedicated our recipe to the children and adults that use diet therapy as treatment for their epilepsy. Here is a high fat, low carbohydrate ketogenic recipe for “sugar” cookies. Use festive cookie cutters and food colorings to give your cookies a holiday theme (if you are worried about synthetic ingredients in food colorings, check out some of the natural food coloring brands such as India Tree, Wild or Chocolate Craft Colors. These are just a few brands that use organic, natural ingredients). Note: this recipe is high calorie, high fat meant for use in the ketogenic diets.
Yield: approximately 2 dozen cookies. Serving size: 2 cookies.
Per serving (2 cookies)
Calories= 290, Fat = 30g, Carbohydrates = 2g (net)*, Protein = 3.75g
Total recipe (~24 cookies)
Calories = 3470, Fat = 363g, Carbohydrates = 22g (net)*, Protein = 45g
1 cup Butter (8 oz. or 2 sticks), unsalted
1 large egg
1/2 teaspoon Vanilla Extract
1 1/2 cups Almond Flour
1/4 cup truvia
1/4 teaspoon Salt
1 stick of butter (4 oz.)
1 1/2 cups truvia
- Preheat oven to 400ºF.
- Cream 1/2 cup of the butter with a hand whisk or a stand mixer until smooth. Add the Truvia and vanilla and continue to cream until light, about 5 minutes. Add egg to butter mixture. Blend well until just combined.
- In a separate bowl sift 1 cup of the almond flour and all of the salt. Add to butter and egg mixture and mix until just combined. (The dough will be pretty sticky so be sure to have a lot of almond flour to spread on your work surface.)
- Chill dough for 20 to 30 minutes.
- Remove the dough from the refrigerator, flour your work surface with almond flour (you should have 1/2 cup left to use for flouring your work surface) and roll the dough out to 1/4 of an inch thickness. Cut out cookies with desired cookie cutter shapes and place on a lightly greased cookie sheet and bake at 400ºF for about 10 minutes or until the top of the cookies are lightly browned. Let the cookies cool before frosting.
- Whip the butter and the truvia with an electric mixer on med to med-high speed until light, fluffy and white in color, about 5 to 7 minutes.
- At this point if you would like to add food coloring you can, otherwise it is ready to use.
- To frost the cookies take a small off-set spatula and spread about a tablespoon of the frosting evenly over each cookie.
*carbohydrates are listed here as “net” carbs, meaning the fiber has been subtracted out already.
8) TANYA’S TROT FOR EPILEPSY
Much like those who suffer from epilepsy, life gives us moments when all is well, than changes in an instant and we find that we are no longer in control. One such day was November 13, 2010. On this day, one life was forever changed and another life was taken.
Tanya Johannes had been dealing with epilepsy for the past 11 years. On that November day, her life was taken. The beautiful, young, and vibrant woman who had expected a whole lifetime ahead of her, passed away at only the age of twenty-five. Tammy Johannes, Tanya’s mother, found herself changed. The loss of her youngest daughter left her full of grief, anger and with questions, so many questions. Over the months that followed Tanya’s passing, Tammy attended seminars, spoke with doctors and learned about SUDEP, Sudden Unexpected Death in Epilepsy. It became clear to Tammy something needed to be done. It was to raise awareness and funds to find a cure to stop epilepsy and seizures.
In the spring of 2011, with around 25 family and friends in support, Tammy participated in the fifth annual National Walk for Epilepsy held on the National Mall in Washington, D.C. The group raised over $7000 and wore custom shirts with Tanya’s image, a purple ribbon and a name, “Tanya’s Team”. This event was to be a model to build from.
THE RUNNERS OF TANYA’S TROT FOR
With the experience of the National Walk, the heart of a mother and an unstoppable drive, Tammy founded the group “Tanya’s Team” and its signature event, Tanya’s Trot for Epilepsy. This annual event is a 5k run and walk through Tanya’s hometown of Akron, New York. It is held in September, the month of Tanya’s birthday. It features event shirts, medals, a certified course and results, epilepsy information, artisans, food and raffles. It is all put together by volunteers organized and run by Tammy.
In its first year, 2012, the event raised nearly $20,000. This past September, the second annual Tanya’s Trot for Epilepsy was held. It saw 283 participants. There were over 140 baskets and additional side items raffled off. The proceeds from this year’s event, $18,000, are being donated to FACES.
Tanya’s Team is gearing up for next year’s event, the third annual Tanya’s Trot for Epilepsy. Additional information about the event and the Tanya’s Team organization can be found on its Facebook page and website, www.Tanyasteam.org. The third annual event is sure to be as successful as the past two years, as the team gains experience, participants and funds, all while we continue “To raise awareness one step at a time.”
Tammy Johannes – President/Event Coordinator
Erik Polkowski - Public Relations
13523 Carney Road Akron, New York 14001-9612
“Not everything that is faced can be changed, but nothing can be changed until it is faced.”
FACES Needs Your Help
With the help of our fantastic FACES community, the 2013 FACES Gala Auction was the most successful to date with over 350 packages! The evening raised an incredible $4.7 million to support our mission and programs. FACES is now accepting donations for the 2014 Gala, being held at Pier Sixty at Chelsea Piers on Monday, March 3, 2014. Help us make this year’s auction bigger and better! Our auction is one of the largest in New York, and includes items such as designer bags, sporting events, high-end electronics, vacation packages, fine jewelry and much more.
If you are interested in donating items to the 2014 Gala Auction, please contact Alyssa Giorgio at firstname.lastname@example.org
STAY TUNED FOR OUR FUTURE PEACE OF MIND LECTURE DATES