Sherri Brady: Helping the Epilepsy and Rett Syndrome Communities

In support of Black History Month, we are highlighting some of the many Black individuals who are making a meaningful impact within the epilepsy community. First, we highlight the beloved Sherri Brady.

Sherri joined the epilepsy community when her daughter, Lauren, was diagnosed with Rett syndrome before her second birthday. Rett syndrome is a rare neurological disorder caused by a genetic mutation in which it is common for children to have more than one seizure type.

One day Sherri received a call from Lauren’s daycare that Lauren was exhibiting strange behavior, so they asked Sherri to get to the daycare as quickly as possible. “And of course, I probably broke all speed limits and rules of the law to get to the daycare as quickly as I could,” says Sherri, recounting that day. Sherri picked her daughter up and took her to the hospital, where doctors told Sherri that Lauren had suffered a febrile seizure. Shortly after, Lauren was diagnosed with Rett syndrome.

Sherri has become a Rett syndrome advocate and has been the Southern California regional rep for the International Rett Syndrome Foundation for over a decade. In that role, she has helped countless families navigate the complexities of managing the healthcare system and accessing available support services for those with Rett syndrome. For the past 20 years, Sherri has organized an annual picnic for parents of children with disabilities including two virtual picnics in 2020 and 2021 when the COVID-19 pandemic and resulting lockdowns led to unprecedented challenges for families with children with disabilities.

Sherri’s impact on the epilepsy community and her drive to continue to improve the services for those with Rett syndrome are inspirational. CURE Epilepsy is grateful to Sherri for all she has done for the epilepsy community and to raise awareness about Rett syndrome.

Fear of Public Places Is Common in Adults with Epilepsy 

Article published by NewsWire

About 5.1 million people in the U.S. have a history of epilepsy, which causes repeated seizures. According to the Epilepsy Foundation, epilepsy is the fourth most common neurological disorder. While current research has shown an increase in anxiety and depression among people with epilepsy, little is known about this population and agoraphobia, an anxiety disorder that involves the fear of being in a public place or in a situation that might cause panic or embarrassment. 

However, a recent study from Heidi Munger Clary, M.D., M.P.H., associate professor of neurology at Wake Forest University School of Medicine, shows that phobic and agoraphobic symptoms are common and associated with poor quality of life in people with epilepsy. 

The study appears online in Epilepsy Research. 

“We know that agoraphobia can lead to delays in patient care because of a reluctance to go out in public, which includes appointments with health care providers,” said Munger Clary, the study’s principal investigator. “So, this is an area that needs more attention in clinical practice.” 

In the study, researchers conducted a cross-sectional analysis of baseline clinical data from a neuropsychology registry cohort study. Researchers analyzed a diverse sample of 420 adults, ages 18 to 75, with epilepsy who underwent neuropsychological evaluation over a 14-year period at Columbia University Medical Center in New York.

Research Explores if Artificial Intelligence Can Support Safer Prescribing for People with Intellectual Disabilities and Epilepsy 

Article published by University of Plymouth

 

Researchers at the University of Plymouth are launching a study to explore whether artificial intelligence (AI) technologies can be used to support safer prescribing for older adults with intellectual disabilities and epilepsy. 

The research, supported by the Bailey Thomas Charitable Fund, will fund the development of an AI-driven decision support tool. 

The team is planning to use the technology to identify clinical factors that contribute to Drug Burden Index (DBI) scores, which defines the functional impact of a medicine based upon its anticholinergic and sedative properties. 

They will also look at how the medicines interact with each other, and which factors influence the DBI scores the most. 

With this information, the team hope to be able to produce a tool that will support GPs prescribing for older adults with intellectual disabilities and epilepsy. They will also assess the anticholinergic status of the patient and then safely optimize their medication accordingly. 

Rohit Shankar MBE, Professor of Neuropsychiatry in the Peninsula Medical School, and Shangming Zhou, Professor of e-Health in the Centre for Health Technology, are leading the project. 

Assisted by Professor of Medical Statistics Victoria Allgar, this project will use REDCap cloud technology to collect patient data including demographics, levels of intellectual disability, genetic variants, epilepsy history, seizure profile, all prescribed medication, and medical co-morbidities.

“Untold Distress” – How Did the COVID-19 Pandemic Affect Those Who Had Previously Experienced an Epilepsy-Related Bereavement?

Abstract found on PubMed

Purpose: This study explores the impact of the COVID-19 pandemic and lockdown on people with lived experience of sudden bereavement as a consequence of an epilepsy-related death.

Method: We developed an online survey with fixed-choice and open-ended response formats to collect data on grief symptoms and well-being during the pandemic. A total of 275 people bereaved by epilepsy-related deaths between 1980-2020 participated in this study: with 79 participants providing free-text responses for inductive thematic analysis.

Results: In total, 84% of participants reported a bereavement following a sudden death of a person aged under 40, with 22% aged 19 and under. The majority (77% of participants) reported they had been thinking more about the person who died compared to before the COVID-19 outbreak and 54% had experienced more distressing flashbacks to the time of death. Additionally, 61% reported more difficulties falling asleep and staying asleep and 88% of participants reported that the outbreak and response measures had negatively impacted upon their mental health. Medication was being taken for a diagnosed mental health condition by 33% of participants at the time of the study. We categorized these negative experiences during COVID in to four main themes – ‘Family’, ‘Lifestyle’, ‘Personal Well-being’ and ‘Health Services and Shielding Populations’. The ‘Personal Well-being’ theme was inextricably linked to grief symptoms including ‘reflection on the death’, ‘re-exposure to feeling’, ‘grief’, ‘salience of sudden deaths in the media’ and ‘inability to commemorate anniversaries and rituals’. These findings were consistent for bereaved people irrespective of the recency of the death.

Conclusion: This study highlights the impact of the disruption caused by the pandemic on the grief management of those bereaved by epilepsy-related death. Grief is not static and its management is connected to the psychosocial and formal support structures that were disrupted during the pandemic. The removal of these supports had an adverse effect upon the mental health and well-being of many bereaved. There is an urgent need for a system-wide transformation of epilepsy and mental health services to be inclusive of the needs and experiences of people impacted by sudden deaths in epilepsy and the contribution of the specialist service developed by families and clinicians to meet this gap.

Epilepsy Research News: January 2023

This issue of Epilepsy Research News includes summaries of articles on:

 

Genetic Testing for Epilepsy Improves Patient Outcomes

Genetic testing in patients with epilepsy can inform treatment and lead to better outcomes in many cases, according to a new study. The study, led and funded by the genetic testing company Invitae, included patients referred for genetic testing between 2016 and 2020 whose testing revealed a positive molecular diagnosis. The investigators asked the patient’s healthcare providers how the results of the genetic test impacted the patient’s treatment plan and outcomes. Of the 418 children and adults with epilepsy who were included in the study, nearly half saw changes in their treatment plans such as a change in medication or referral to a specialist, after genetic testing revealed new information about their condition. The study also found that of 167 patients with follow-up information available, treatment changes were associated with improved patient outcomes including a reduction or elimination of seizures. The authors concluded that results support the use of genetic testing to guide the clinical management of epilepsy to improve patient outcomes. Learn more about genetic testing for epilepsy here.

Learn More

 

New Tools to Map Seizures and Improve Epilepsy Treatment

A new “tool” – a statistical model – has been developed to help doctors find precisely where seizures originate in the brain to increase the possibility of treating that specific region. Localizing where seizures begin is usually a costly and time-consuming process that can often require days to weeks of invasive monitoring. In this study, researchers aimed to shorten the time it takes to locate the seizure onset zone by studying patients’ brains, both when they weren’t having seizures and when their brains were stimulated with quick electrical pulses, to quickly create maps predicting where seizures begin. In the 65 patients studied, the model predicted the location of the onset of seizures and the ultimate success of surgical intervention with 79% accuracy. The researchers noted that this tool might be used to help clinicians identify the area where seizures begin in a less time-consuming process.

Learn More

 

Gene Therapy for Epilepsy

A recently published study shows that a potential new treatment can prevent seizures in mice by clearing the accumulation of a protein in the brain known as the tau protein. Researchers at Macquarie University recently found that accumulation of tau protein can lead to neurons becoming hyperexcited. Hyperexcited neurons that fire continuously can result in seizures and cognitive decline. In the newly published study, the researchers developed a gene therapy that uses a brain enzyme known as p38y to prevent this accumulation. When treated with the new gene therapy, mice with uncontrolled epilepsy had a better chance of survival in addition to reduced seizure susceptibility. The researchers note that their next step is to conduct a more detailed study in the laboratory, in hopes of eventually preparing the treatment for a possible clinical trial.

Learn More

 

World Health Organization (WHO) Focuses on Improving the Lives of People with Epilepsy

A technical brief published by the World Health Organization (WHO) called Improving the Lives of People with Epilepsy sets out the actions required to deliver an integrated approach to epilepsy care and treatment with the goal of meeting the multifaceted needs of people with epilepsy. In summary, the brief highlights the importance of:

 

  • Integrated services across the life-course, particularly at the primary care level

  • Access to anti-seizure medicines

  • Resources and training for the health and social services workforce

  • Anti-stigma and discriminatory legislation and practices; promoting and respecting the human rights and full social inclusion of people with epilepsy, their families and caregivers.

Learn More

 

Memory Impairment in Those with Epilepsy

People with chronic epilepsy often experience impaired memory. Researchers have now found a mechanism using a mouse model of epilepsy that could explain this impairment. Porous channels called ion channels within the brain allow electrically charged particles (ions) to flow into neurons, allowing neurons to communicate with each other. However, the researchers found changes in sodium ion channels within neurons of the hippocampus – an area of the brain important in learning and memory – that could lead to changes in the activity of these neurons and affect their normal function. When the researchers administered substances to restore the normal function of these channels, the firing properties of the neurons normalized, and the animals were better able to remember places they had visited. The study provides insight into the processes involved in memory retrieval. In addition, it provides support for the idea that the development of new drugs may improve the memory of epilepsy patients.

Learn More

UK Epilepsy Prevalence and Incidence Update

Article published by Epilepsy Action

A new update on the number of new cases of epilepsy and the number of people with epilepsy in the UK has found differences between the nations.

The new UK study by Wigglesworth and colleagues aimed to provide an update on the incidence of epilepsy (the number of new cases) and the prevalence (the number of people with epilepsy) in the UK between 2013-2018.

The researchers used electronic health records of around 14 million people, representing around one fifth (20%) of the UK population.

The study found that overall in the UK, just over nine people would have epilepsy in every 1,000 people each year. This means that an estimated 633,000 people are living with epilepsy in the UK.

When looking individually at England, Northern Ireland, Scotland and Wales, the team found there were slight differences.

In England, this drops to just under nine people in every 1,000 having epilepsy a year. In Scotland, this was just over 10 people, in Wales it was over 11 people and in Northern Ireland it was over 12 people.

In Pediatric Epilepsy, Links Found Between Parental Factors, Emotional and Behavioral Issues

Article published by AJMC

Adolescents with epilepsy (AWE) commonly experience emotional and behavioral problems, which vary depending on demographic, clinical, and parental factors, according to a study published in Epilepsy & Behavior from the Korean Quality of Life in Epilepsy Study Group. The parental factors included how they perceived others treated their child.

Due to these findings, the study authors emphasized it is crucial to identify and properly manage these problems early to decrease comorbid psychopathology in AWE.

The cross-sectional multicenter study included 289 adolescents—180 boys and 109 girls—aged between 11 and 18 years, with a mean (SD) age of 15.4 (1.9) years.

The authors explained that psychopathology among this group was evaluated using the Youth Self-Report scale, consisting of 8 narrowband and 3 broadband syndrome scales, and the raw score and T-score of each syndrome scale was analyzed.

The study found 18.3% of AWE had at least 1 emotional or behavioral problem in the clinical range.

Social problems were most common (10.0%), followed by attention problems (6.9%) and aggressive behaviors (4.2%), and externalizing problems (11.8%) were twice as common as internalizing problems (6.2%).

Consistent with findings of prior studies, this study showed 1 in 4 parents of AWE said they perceived that other people felt uncomfortable with their child, treated their child as inferior, or preferred to avoid their child because of their epilepsy.

“Adolescents whose parents perceived stigma had higher levels of all types of emotional and behavioral problems, except for withdrawal and anxiety/depression than those whose parents perceived no stigma,” the authors explained further. “Specifically, these adolescents were more likely to have externalizing problems and social problems.”

CURE Epilepsy Update January 2023

Happy 2023 CURE Epilepsy Community,

On behalf of the entire team at CURE Epilepsy, I would like to thank you for your support and generosity throughout 2022. Your ongoing support makes our mission of funding breakthrough research to find a cure possible.

2023 marks an incredibly significant milestone for CURE Epilepsy. This year we are celebrating 25 years of inspiring hope and delivering impact for the epilepsy community. Twenty-five years ago Susan Axelrod and a small group of parents of children with epilepsy who were frustrated with their inability to protect their children from seizures and the side effects of medications joined forces to accelerate the search for a cure. From that frustration, CURE Epilepsy was born, and through their persistence and dedication, as well as the commitment of thousands of parents, caregivers, researchers, clinicians, people living with epilepsy and so many more along the way, we continue paving the path to advance science to find the cures for epilepsy.

During the past 25 years, we have raised over $90 million to achieve our mission and awarded more than 280 grants. We will not stop until we are all able to live in the world we envision. A world without epilepsy.

With commitment to inspire hope and deliver impact.

Warm Regards,


In this CURE Epilepsy Update, please find information on:


Champion Highlight: The Monast Family

In 2022, the Monast family from Eastern Pennsylvania, along with fellow CURE Epilepsy Champions, the Rosini family, organized the first annual Reagan’s Run. Reagan Monast, the inspiration for the race, was diagnosed with epilepsy nearly eight years ago before her second birthday. Reagan’s Run was a 5K or 1-mile run/walk to raise awareness and critical funds for epilepsy research in honor of Regan, family friend Dominic Rosini, and the 3.4 million other Americans living with epilepsy.

With the help of their friends and families, the Monasts and Rosinis raised nearly $30,000 to fund research to find a cure. You can become a Champion like the Monast and Rosini families by starting an awareness and fundraising event of your own to support CURE Epilepsy. If you need some ideas to get started or want additional information, you can contact CURE Epilepsy at events@CUREepilepsy.org. And stay tuned for more details about our 25th Anniversary CURE Epilepsy Champions Challenge.

 

Learn How to Become a CURE Epilepsy Champion


Our Newest Board Member…

Please join us in welcoming the newest addition to our Board of Directors, Justin Gover. Justin has over twenty-five years of experience in leadership positions in the biotechnology industry in the UK and the US, most recently as the CEO of GW Pharmaceuticals prior to its acquisition by Jazz Pharmaceuticals.

 

 

 

Learn More About All CURE Epilepsy Board Members


Start Your 2023 Off Right by Choosing to #SayEpilepsy

2022 may have come to an end, however, our Say the Word #SayEpilepsy campaign continues into 2023 as a way to help continue to raise epilepsy awareness. By saying and sharing Say the Word #SayEpilepsy, you can help make a difference in the lives of those within the epilepsy community who are in need of a cure.

 

 

 

Share Your Story


Child Life On Call Podcast with Guest Kelly Cervantes

On Wednesday, January 18th hear Kelly Cervantes share how her family sought to empower themselves in the face of their daughter Adelaide’s epilepsy, her work with CURE Epilepsy, and much more.

 

 

 

Listen Here on January 18


Save the Date for Purple Day

Mark your calendars now for Purple Day on Sunday, March 26! Purple Day is an annual, international grassroots effort to help build awareness for epilepsy around the globe. Join with the epilepsy community on this is a day of celebration, recognition, and awareness. You can also participate in the Purple Day Expo at Disney World on March 25th.

 

 

Learn More


What’s New from the Seizing Life® Podcast

Kids Ask Docs the Darndest Things About Epilepsy

 

Recorded live at Epilepsy Awareness Day at Disneyland this past November, kids who have epilepsy or have family members with epilepsy ask pediatric neurologists their questions about the disorder.

Watch or Listen

 

 

Managing Epilepsy with the Stress of the Holidays

 

Dr. Eva Alden, a Neuropsychologist at the Mayo Clinic joins us to explain the connection between stress and seizures, and offers advice, insights, and recommendations for those with epilepsy and their caregivers to help cope with stress and seizure triggers during the holidays.

Watch or Listen

 

Watch these and all of our upcoming Seizing Life episodes here.


 

The CURE Epilepsy Store

 

Looking for some apparel or accessories to raise epilepsy awareness during 2023? Check out the CURE Epilepsy Store now!

 

 

 

Shop


Please mark your calendar for the following key dates in the epilepsy community:

  • January 1 – December 31, 2023 – CURE Epilepsy’s 25th Anniversary
  • February 13, 2023 – International Epilepsy Day
  • March 25 – Purple Day Expo at Disney World
  • March 26 – Purple Day
  • October 18 – SUDEP Action Day
  • October 30 – November 1 – Epilepsy Awareness Day at Disneyland
  • November – Epilepsy Awareness Month
  • December 1-7, 2023 – Infantile Spasms Awareness Week

 

1 in 26 individuals will be impacted by epilepsy in their lifetime.
Each person has their own story.

Read Leonardo’s Story

 

Psychiatric Co-Morbidity of Drug-Resistant Epilepsy in Veterans

Abstract found on PubMed 

Objective: Psychiatric conditions are frequently co-morbid in epilepsy and studies examining Veterans with epilepsy suggest this population may present with unique psychiatric and clinical features Drug-resistant epilepsy (DRE) may confer a greater risk of psychiatric dysfunction; however, there is a paucity of literature documenting this. To expand our clinical understanding of Veterans with DRE, we assessed a comprehensive Veterans Health Administration (VHA)-wide sample, describing psychiatric conditions, medications, and healthcare utilization.

Methods: Psychiatric and hospitalization data were collected on 52,579 Veterans enrolled in VHA healthcare between FY2014-2ndQtr. FY2020 from the VHA Corporate Data Warehouse administrative data. Data examined include psychiatric diagnosis, psychotropic medication use, and utilization of hospital services.

Results: At least one psychiatric diagnosis was present in 70.2% of patients, while 49.8% had two or more diagnoses. Depression (51.7%), posttraumatic stress disorder (PTSD) (38.8%), and anxiety (38.0%) represented the most common psychiatric co-morbidities. Psychiatric medication use was present in 73.3%. Emergency room (ER) visits were highest in those with suicidality (mean 14.9 visits), followed by bipolar disorder (10.3), and schizophrenia (12.1). Psychiatric-related hospitalizations were highest for schizophrenia (mean 2.5 admissions) and bipolar disorder (2.3). Females had more psychiatric diagnoses (2.4 vs. 1.6, p < 0.001), psychiatric medications (3.4 vs. 2.3, p < 0.001), and ER utilization than males (6.9 vs. 5.5, p < 0.001).

Significance: A substantial psychiatric burden exists among Veterans with drug-resistant epilepsy (DRE). Compared to prior epilepsy literature, results suggest that Veterans with DRE evidence more prevalent psychiatric comorbidity, emergency care usage, and inpatient psychiatric admissions. Females were especially impacted, with greater rates of psychiatric conditions and treatment. Considering the relationship of psychiatric comorbidities in epilepsy with psychosocial functioning and quality of life, our findings highlight the need for screening and provision of services for those with DRE.

Attitudes Towards Persons with Epilepsy as Friends. Results of a Factorial Survey

Abstract found on PubMed

Objective: Discrimination against persons with epilepsy (PWE) may still persist. The aim of the study was to examine whether epilepsy is an obstacle to desired friendship.

Methods: A factorial survey (vignettes), which is less biased by social desirability, was applied to PWE, their relatives, and lay persons. The vignettes described a person who was varied by the dimensions of age (younger, same age, older), gender (male, female), disease (healthy, mild epilepsy, severe epilepsy [generalized tonic-clonic seizures], diabetes), origin (German, non-German), contact (phone/internet, activities at home, activities outside), frequency of contacts (weekly, monthly), and distance (around the corner, 10km away). Respondents rated their willingness to befriend with the person on a 10-point Likert scale. Multivariate regression determined the contribution of each dimension on the judgement.

Results: Participants were 64 PWE (age: 37.1±14.0 years), 64 relatives of PWE (age: 45.1±13.6 years), and 98 controls without contacts to PWE (age: 24.4±10.1 years). Controls were less interested in a friendship towards a PWE with mild epilepsy (-3.4%) and even more avoided PWE with severe epilepsy (-11.7%) while in PWE with tonic clonic seizures, a mild form of epilepsy was even conducive for friendship (+7.0%). Controls preferred females (+5.0%) and disliked younger people (-12.3%) and contacts via the internet or telephone (-7.3%). PWE were also less interested in younger people (-5.8%), and relatives of PWE had a lower preference in friendships with longer distance (-2.3%).

Significance: PWE still suffer from a risk of social avoidance and this becomes more evident with generalized motor seizures.