CURE Champion Spotlight: Mary Fox Goes the Distance

For her 75th birthday, CURE Champion Mary Fox and her friends and family walked, skipped, and swam to support epilepsy research during Move for Yasya! More than just an impressive milestone, this virtual marathon was a special fundraiser honoring Mary’s granddaughter, Yasya.

Yasya, standing in the kitchen wearing a fox costume.

Yasya, who this fantastic event honored.

Yasya has battled epilepsy for two years now. At only 12 years old, she has had multiple emergency room visits, has undergone innumerable diagnostic tests, and has tried countless antiseizure drugs.  Yasya has always referred to herself as “rare” and unfortunately, her neurologist agrees; her epilepsy is rare and complicated with multiple seizure types over her entire brain. Despite these seizures, Yasya wakes up every day with a cheerful, outgoing attitude. She doesn’t let her epilepsy stop her – she uses it to motivate and empower her to live her life to the fullest.

Yasya’s spirit of positivity and can-do attitude inspired Mary and her husband Jay – they decided to host their own virtual marathon for Mary’s birthday! They committed to walking 26.2 miles over 26.2 days and encouraged friends and family to join them using the power of the internet. Using CURE’s online fundraising platform, each participant donated to CURE, committed their own distance and time goals, and decided how they’d get up and move (walk to the park once a week, do 20 laps around the kitchen table every night, etc.). Participants then honored their marathon commitments and remained engaged by providing updates and encouragement through Mary’s interactive fundraising page. Mary’s interactive fundraising page.

Mary had an ambitious fundraising goal – $1,945 in honor of her birth year. In just one month, Move for Yasya raised 120% of Mary’s goal, all in support of CURE’s mission to fund ground-breaking epilepsy research.

Mary hopes to create a world without epilepsy for Yasya and the 470,000 other children in the US impacted by this devastating condition by raising funds and awareness in support of epilepsy research. If you’re interested in setting up your own virtual fundraiser, please reach out to our Outreach Team at events@cureepilepsy.org.

What My Epilepsy Diagnosis Taught Me About Pursuing a Career in Science

Six months after starting my first faculty position, I lost consciousness while speaking with my students and postdocs. I hit my head on a lab bench as I fell to the floor. A few minutes later, utterly bewildered, I woke up to see the unfamiliar faces of the emergency medical team, as well as the scared faces of my mentees. At the hospital, doctors performed a battery of tests, collecting my spinal fluid and scanning my brain. Later, they told me that I’d suffered a grand mal seizure; it was the first seizure I’d ever had. I was diagnosed with epilepsy at 34 years of age—and my career hasn’t been the same ever since.

When I had my first seizure, I’d toiled in academia for 14 years, working my way up the academic ladder. I’d always been laser focused on the next step in what I imagined would be a very linear career trajectory—Ph.D., postdoc, faculty job, tenure. Then, less than 1 year after starting my dream job as a tenure-track professor, health complications disrupted my path.

I decided not to read much about epilepsy. Learning about my condition would be a distraction from my own research. I also wanted to show my trainees and colleagues that all was well. I was on medication, after all, so there was no reason to worry. I thought I could get away with making minimal lifestyle changes—more sleep, no driving—and leave it at that.

For 1 year it worked, and life went on as normal. But then, out of nowhere, I started to have recurrent seizures. I fell in my department’s bathroom, where a graduate student found me. I had a seizure while traveling home from a lecture in Europe. I had several seizures in front of my 3-year-old daughter at home, where I awoke to see her staring at me and crying.

It’s hard to describe the feeling of having a seizure, of coming back to reality and finding yourself confused, lost, and completely vulnerable. I had to take higher doses of my medication, which caused side effects such as fatigue, anxiety, and hostility. The fatigue reduced my focus, at times preventing me from writing grants or even reading papers. Leading my research team became a challenge. Often I was physically unable to stay in the lab for long hours, and mentally unable to focus during meetings with my trainees. Every seizure took my confidence in my ability to run a lab down a notch.

Yet, thanks to an amazing group of trainees and collaborators, my lab remained productive and well-funded. My epilepsy became a challenge we all face together. My trainees now understand that sometimes I won’t be in the lab, possibly for a prolonged period. But we stay in constant touch through email and phone calls. I know I can count on them to keep the lab running in my absence. They know I have faith in them and that I am available when they need me.

I am still afraid. Afraid of what’s next. Afraid of having a seizure during a conference talk. Afraid of traveling. Afraid of forgetting people’s names. Afraid of forgetting deadlines. Afraid of not looking forward to the next step in my career path.

It’s difficult. But I’ve also started to realize that most people outside the orderly world of academia deal with similar fears about the future every day. I’ve learned that it’s OK to give myself some slack—to deviate from the linear career path I once imagined I was on. I work fewer hours. I have to take more notes to avoid forgetting things. I am less efficient. I am still afraid. But that doesn’t stop me from traveling, giving talks, and writing grants and papers. After every seizure, I still think of quitting. But I don’t. I adapt.

So, if something unexpected derails your ideal career path, find an alternate route. Accept that you have to do things differently. Don’t be afraid to ask for help, and don’t compare yourself with others. Surround yourself with positive people and learn how to carry on. Linear or not, a career in the sciences is still an amazing privilege that no seizure will erase.

Epilepsy Treatment Side Effect: New Insights About the Brain

Though Genette Hofmann is still using her brain, last month she donated a bit of it — to science.

Hofmann needed the surgery — her Seattle surgeon was looking deep into her brain, where he found the trigger for the epileptic seizures that had disrupted her life for 30 years. But to get there, he teased out a bit of healthy tissue the size of a lima bean, and with her blessing quickly sent it to some researchers, who were eager to study brain cells while they were still alive.

That’s how Hofmann joined a long line of epilepsy patients who’ve helped scientists reveal basic secrets of the brain — knowledge that could pay off in better ways to measure consciousness in brain-injury patients and new treatments for a variety of diseases.

Research volunteers such as Ruth Nall, who made a different kind of contribution in a California hospital room, reading sentences aloud as a network of surgically implanted sensors kept close track of how her brain worked.

Since she was going to have electrodes implanted anyway, she reasoned, why not help out?

“Plus,” she added, “I’d have visitors.”

[…]

Hofmann’s brain cells were rushed to the institute on “life support” in a cooler rigged up with artificial cerebral spinal fluid and oxygen. At the lab, researcher Herman Tung sliced the pearl of brain into thin sheets for viewing with a powerful microscope, readying it for a three-part series of experiments.

After resting for an hour after slicing, Hofmann’s brain cells were ready for their star turn under the microscope.

Researcher Katherine Baker found a single brain cell and recorded its electrical activity. She injected dye that spread into the threadlike dendrites of the neuron to reveal its shape.

Baker removed the cell’s nucleus for the third step: a readout of which genes are turned off and which are turned on.

About three-quarters of such donations at the Allen Institute come from epilepsy patients; the rest come from cancer surgeries. The Allen Institute is building an online atlas that makes information on hundreds of human brain cells freely available for study. The institute hopes that will provide a new avenue, beyond brain scans and animal studies, for tackling conditions like Alzheimer’s disease and autism.

Screenshot from Star Wars: The Rise Of Skywalker

Seizure Warning For Star Wars: The Rise Of Skywalker

Disney has issued warnings for Star Wars: The Rise of Skywalker for those who have photosensitive epilepsy.

According to Disney, Star Wars: The Rise of Skywalker contains several sequences with imagery and sustained flashing lights that may affect those who are susceptible to photosensitive epilepsy or have other photo-sensitivities.

Reports suggest photosensitive seizures occur in about 10% of new epilepsy cases in people aged 7-19, though this area of research warrants further study. These seizures are triggered by visual stimuli, such as flashing lights and patterns with repetitive movement.

Angelman Advocate Launches ‘Combined Brain’ Rare Disease Consortium

Terry Jo Bichell, whose son’s Angelman syndrome inspired her to go back to college at the age of 49 and get a PhD in neuroscience, has long advocated for families affected by the rare neurological disease.

But now, she’s branching out.

The Tennessee scientist and mother of five has formed COMBINEDBrain — an acronym for “Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders.”

The new entity, headquartered in Nashville, is a coalition of 12 patient advocacy groups representing extremely rare genetic non-verbal neurodevelopmental (RGNN) diseases that generally affect only a few hundred people worldwide.

Bichell, 59, explained that her transparent, collaborative organization is, in effect, a spinoff of previous and current efforts to find a cure for Angelman syndrome.

“We’re going to build on the lessons learned by Angelman researchers and the drug development process to help other similar disorders,” Bichell told BioNews Services, which publishes this website. “The idea is that many rare genetic neurological disorders like Angelman syndrome will share similar biomarkers and outcome measures, so we shouldn’t have to remake the wheel in the drug development process.”

COMBINEDBrain will design and coordinate natural history studies and outcome measures, as well as work toward rodent model characterization and biomarker development for a range of diseases.

Two children happy at a table together.

Eisai Launches First Amazon Alexa Skill Designed to Engage with Those Impacted by Lennox-Gastaut Syndrome – a Rare and Severe Form of Childhood-Onset Epilepsy

Eisai Inc., the U.S. subsidiary of Eisai Co., Ltd., announced on November 12, 2019 the launch of Ella the Jellyfish, the first Amazon Alexa skill designed for those affected by Lennox-Gastaut Syndrome (LGS). The Alexa skill was created with input from children living with LGS, a rare and severe form of childhood-onset epilepsy, their families and caregivers and is provided free of charge.

Featuring capabilities such as interactive play, listening and creative activities, Ella the Jellyfish was designed for easy and seamless daily use on Alexa-enabled devices, including voice assistants, mobile phones and tablets. By simply saying, “Alexa, open Ella the Jellyfish,” families, caregivers and children can instantly and easily interact with Ella and her underwater friends by listening to Ella tell a story, singing a song, listening to a relaxing meditation or playing such games as “Ella Says, Freeze Dance” and “Color Hunt.”

Parents and guardians can enable the Ella the Jellyfish skill by searching for Ella the Jellyfish in the Alexa Skills Store online and through the Alexa app. Once enabled, caregivers and patients can start by telling their Alexa-enabled device to open Ella the Jellyfish. Caregivers and patients can also learn how to operate the skill by watching videos of caregivers and children using Ella the Jellyfish. Those videos can be found at ellathejellyfish.com.

Stacia Kalinoski and her mother, Barbara

ILAE Caregiver Series: Parents of Adults with Epilepsy: Caregiving without a Net

Barbara Kalinoski takes charge of things. She’s been chair of the school board, President of the Laurentian Lakes Chapter of the North Country Trail Association, Director of the Northwest Regional Library, and President of the Minnesota Library Association.

But when the oldest of Barbara’s four children began having seizures in college in 2005, Barbara couldn’t exactly take charge. Stacia was a legal adult who could make her own medical decisions. Though Barbara came to medical appointments, she wasn’t involved — not the way she would have been, had her daughter been a few years younger.

I need to know

“Being a parent of an adult child with epilepsy is a whole different ballgame,” said Barbara. “I didn’t receive any information from the doctors. I had to find it on my own.”

If anyone could find it, Barbara could; she’d been in library administration for decades, and information was her lifeblood. But the internet in 2005 was a mere shadow of what it is today. Barbara and her husband Greg were frustrated by what they found — or rather, what they didn’t find.

“The information was really difficult to find, and what I found wasn’t helpful at all,” Barbara recalled.

Stacia was in college six hours from home, but Barbara drove to each appointment to offer support and gather any information she could. Stacia wasn’t officially diagnosed with epilepsy, but she was prescribed an anti-epileptic medication. Barbara remembers that the side effects were such that Stacia tended not to take it regularly; this worried her. But she couldn’t force her daughter to take her medicine as directed.

Years later, Stacia called her parents with a formal diagnosis: mesial temporal sclerosis. This didn’t surprise Barbara; since Stacia’s first seizure, Barbara was almost sure that her daughter had epilepsy. Barbara had some experience with epilepsy; she knew someone who had the condition, and had witnessed a few seizures.

Barbara also knew about some of the challenges her acquaintance faced every day, both in the workplace and in life in general. So when Barbara imagined what her daughter’s future might be like, some of it frightened her.

Epilepsy Survey Gives Voice to Patients in Setting Their Research Priorities

EpLink – the Epilepsy Research Program of the Ontario Brain Institute (OBI), in collaboration with the James Lind Alliance and the Ontario Brain Institute, announced the launch of an online survey to work directly with patients, caregivers, and clinicians to better identify research priorities around epilepsy and seizures.

This project, also known as a Priority Setting Partnership (PSP), is the first such initiative for epilepsy in Canada. The PSP is being led by EpLink, and funded by OBI, in a partnership with the James Lind Alliance, a UK-based non-profit that sets health research priorities. The outcome of this PSP will be a “Top 10” list of research questions that will serve to guide researchers and funding agencies. Patients, caregivers and clinicians will use the survey results to compile this list and prioritise which questions are the most important for research to address.

“There are still many aspects of epilepsy and seizures that we don’t fully understand, which can pull research in many different directions,” said Dr. Jorge Burneo, Chair of the Epilepsy PSP Steering Committee and Epileptologist at Western University. “By collecting the questions of people in the epilepsy community, we can focus our work on answering the questions that are the most meaningful to the people who benefit from our research, which as a result will serve to help clinicians provide better care, and improve the lives of patients and their caregivers.”

Hailey Scheinman

Epilepsy and Caregiver Stress: How One Family Counters Stress by Giving Back

For people with epilepsy, seizures affect almost every aspect of their lives. The seizures also affect their caregivers’ lives, with impacts on physical health, emotional functioning, social relationships, employment and finances. Caregivers are at risk for post-traumatic stress, anxiety and depression.

Here’s how one family works to channel their stress and frustration into helping others.

Olivia (Livy) Scheinman has been having seizures since she was only a few hours old. Now 14, Livy has undergone multiple surgeries but must continue to take several anti-epilepsy medications. And she still has seizures.

“We’ve gone through 14 medications,” said her father, Jon. “They work for a certain period of time and then they stop working. That means at some point you have to drop everything and start going to the hospital. It puts life on hold.”

Be the change

“Livy has other disabilities as well, so that compounds the stress,” Jon said. “We’ve been fortunate that she hasn’t had to be in the hospital for the past 5 or 6 years, but we still deal with daily seizures, medication schedules, doctors’ appointments. There’s plenty of stress and sleep deprivation.”

Jon and his family have worked to channel their stress into a positive outlet: helping others. Livy’s twin sister Hailey seems to have led the charge.

Support systems

Hailey uses music to relieve stress. “I have a group of songs I listen to that are calming,” she said. “I also like watching movies and TV shows.”

Jon turns to exercise. “Physical fitness is one of my things, and it helps release a lot of stress,” he said. “I love cooking too… when I was in the hospital [with Livy] I’d look out the window and think about eating a great dinner. I’d think about the things I’d rather be doing.”

$1.66 Million Grant to Help Michigan Children with Epilepsy

Michigan children with epilepsy will see improved outcomes through expanded services funded by a $1.66 million grant that the Michigan Department of Health and Human Services (MDHHS) has received.

The 4-year-grant for $416,000 annually from the Health Resources and Services Administration’s Maternal Child and Health Systems Branch will fund the Michigan Pediatric Epilepsy Project.

The focus of the grant is to improve health outcomes for children and youth with epilepsy, especially those in Michigan’s rural and medically underserved areas. This grant enables the Michigan Children’s Special Health Care Services Division to expand upon current efforts to improve access to specialized pediatric epilepsy services.

“This new funding opportunity provides greater access to comprehensive services for children, youth and their families living with epilepsy,” said MDHHS Director Robert Gordon. “By partnering with four of the major epilepsy centers in Michigan – Beaumont Children’s hospital, Children’s Hospital of Michigan, Helen DeVos Children’s Hospital, and Mercy Health Hauenstein Neurosciences – epilepsy patients and their families will have better access to specialty care and more successful transitions to adult specialists to effectively manage their epilepsy.”