CURE Mention: Valentine’s Day Epilepsy Philanthropy

In the town of Monselice in the Province of Padua, Italy, there is a unique tradition held on Valentine’s Day each year. In a small chapel at St. George’s Oratory, there is a special ceremony in which children receive a small charm, a Valentine’s key, believed to ward off epilepsy. According to the Epilepsy Foundation, epilepsy is the fourth most common neurological disorder and can affect people of all ages. Sometimes epilepsy, which is another term for “seizure disorders” can be traced to a brain injury or a family history, but often the cause is unknown.

Perhaps you know someone who suffers from seizures and has experienced the life-altering effects of epilepsy, which can prevent proper growth and development, remove independence or curtail activities such as driving or working. This Valentine’s Day may be a reminder for you to reach out to them and find a way to help. It may be as simple as driving a friend to an appointment or running an errand for a weary caregiver. Your expression of philanthropy could also be to make a contribution to an organization doing research to find a cure for the disease. CURE, which stands for Citizens United for Research in Epilepsy, can direct your gift to a variety of research efforts targeting this disease.

Gene playing major role in neurological condition found

This genetic discovery included the efforts of CURE grantee Minghsan Xue.

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that usually contains six genes, but which one of the genes is responsible for the clinical characteristics of patients has not been clear. In this study, a multidisciplinary team of researchers at Baylor College of Medicine and Texas Children’s Hospital has identified in a mouse model OTUD7A as the gene within the deleted region that accounts for many characteristics of the human condition. The researchers also discovered that mice deficient in the gene Otud7a have fewer dendritic spines, small protrusions involved in neuron communication, which might be related to the neurological deficits.

The report appears in the American Journal of Human Genetics.

“Identifying the gene within a deleted region of a chromosome that accounts for the clinical characteristics we see in patients is very important,” said senior author Dr. Christian Schaaf, assistant professor of molecular and human genetics at Baylor College of Medicine and the Joan and Stanford Alexander Endowed Chair for Neuropsychiatric Genetics at Texas Children’s Hospital. “If we want to get to the point where we can treat patients, we need to know which gene or genes to target. That is the big picture question behind this study.”

Get VIP Tickets to Hamilton and Meet Miguel Cervantes

 

Support CURE and enter to win VIP tickets to Hamilton. You and a friend will:

  • Get VIP tickets to the multi-award-winning show, Hamilton
  • Meet Miguel Cervantes on stage after the show and join him for dinner
  • Enjoy a pre-show backstage tour for an exclusive peek behind the curtain
  • Be flown out to Chicago and put up in a 4-star hotel

Don’t throw away your shot! Donate to CURE to fund epilepsy research and to win a VIP experience.

CURE Epilepsy Research Grants

Meet our latest grant recipients!

Receiving nearly 1 million dollars in research funding from CURE, our latest grant recipients are a group of forward-thinking individuals poised to uncover important research discoveries in the quest for treatments and a cure for epilepsy. CURE closed out 2017 with a total of $1.4M in new grants and remains committed to supporting groundbreaking research as we strive towards our goal of “no seizures, no side effects.” Read more about our newest grantees below.

 

SLEEP & EPILEPSY AWARD

$220,000 over two years, aiming to understand the relationships between sleep and epilepsy. Made possible by the generous support of the BAND Foundation.

 

Judy Liu, MD, PhD
Brown University

The role of sleep in epilepsy: Loss of function of the circadian molecular clock may underlie the sleep/epilepsy relationship

Up to one in four patients experience seizures only during the night, but the mechanisms underlying sleep and epilepsy are largely unknown. Using a mouse model that has sleep-associated seizures, Dr. Liu and her team will determine which stages of sleep are vulnerable to seizures and will examine whether altering certain aspects of sleep can affect the frequency or intensity of seizures. These studies will help us to understand the relationship between sleep and epilepsy, and may lead to new strategies for dealing with sleep-associated seizures.

Virginia’s Seizure Notebook

BY KATE COOPER, VIRGINIA’S MOM

On August 14, 2004, my 17-month old daughter Virginia suffered her very first seizure. At first it was subtle: a barely perceptible twitch of the eyes. But it escalated quickly, and within 24 hours she was admitted to the ICU.

She’s had more than 13,000 seizures since that day.

For years I carried a notebook and jotted down the date and time of each and every seizure. Every nurse, every doctor, every concerned stranger asked the same questions: When was her last seizure? How often does she have them? How long do they last?

That notebook made me feel like I had answers. But here’s the problem: All of these questions assume that we’re dealing with seizures in a vacuum. And we now know that epilepsy is not a series of isolated incidents; it is a cumulative tragedy. With each and every seizure, Virginia suffers more brain damage.

Every page of that notebook represents compromised potential, lost opportunities, missed milestones. Every notation changes who Virginia is as a daughter, a sister, a student, an athlete and a friend.

I used to count individual seizures. But I finally realized that even one seizure is one too many. And I stopped counting.

Twenty years ago, Susan Axelrod stopped counting, too. She started CURE and has since helped raise more than $50 million for epilepsy research. But epilepsy research is still tragically underfunded. In fact, even though it affects 43% more people than Parkinson’s, Multiple Sclerosis, Muscular Dystrophy, and Cerebral Palsy combined, epilepsy receives 60% less funding than each of these diseases.

As the year comes to an end, please resolve to help us close this funding gap. Let’s stop counting seizures and start counting seizure-free days instead.

Join us in the quest for a cure!

A MESSAGE FROM CURE’S CEO

Susan and LaurenThe story of CURE is the story of people coming together to make a difference, to stop suffering – whether that suffering comes from seizures or from side effects of seizure medication – and to embark on a quest to end epilepsy once and for all.

Nearly 20 years ago, Susan Axelrod and a group of parents came together to form CURE. Susan was heartbroken by the devastating ways in which she saw epilepsy impacting her daughter Lauren. She was also deeply frustrated by the lack of options available for parents who wanted to fund research that would move science closer to a cure.

In the years since CURE was formed, many have joined Susan on this quest, and remarkable strides have been made. Since 1998, no private organization has provided more funding for epilepsy research, and recent advances in science are making exciting things possible.

This year CURE provided 10 patients with a genetic diagnosis for their epilepsy through our groundbreaking Epilepsy Genetics Initiative that is driving precision medicine forward, identifying new genetic causes and targeted therapies. We awarded research grants totaling more than $1.5M to 11 investigators, including the new Sleep & Epilepsy Award. And we helped provide 39 wearable seizure-tracking Apple Watches to people with epilepsy through the EpiWatch program, in partnership with Johns Hopkins University.

Momentum is building, but we need your continued support to ensure it keeps up.

Donate

We must not stop until a cure for epilepsy is found for all the millions who still need it. Together, we CAN make a difference. We are committed to working relentlessly to find a cure, and we hope that you will join us. Thank you!

Sincerely,

Kate Carr
Chief Executive Officer, CURE

Miguel and Kelly Cervantes Named 2017 Chicagoans of the Year

Miguel Cervantes admits he was distracted while auditioning for the title role in the Chicago production of Hamilton. It was May 2016, and his 7-month-old daughter, Adelaide, had just been diagnosed with epilepsy. On the day of Cervantes’s third callback in New York City, Adelaide was getting a spinal tap to try to figure out the cause. “A friend of mine happened to be outside the studio after the audition,” Cervantes remembers. “I was talking to him and put my head in my hands and got a little emotional, and he was like, ‘Hey, man, I’m sure you did great.’ And I was like, ‘Dude, thanks, but I don’t care about Hamilton that much.’?”

The news got worse a couple of months later, when doctors discovered that Adelaide had what’s known as infantile spasms, a particularly devastating form of epilepsy that can lead to severe developmental and cognitive delays. Says her mother, Kelly: “You go to the hospital and find out you have cancer, and it’s, ‘Here’s the treatment.’ You get an epilepsy diagnosis, and you hear, ‘I’m sorry, there’s no cure. Let’s start throwing darts at a board to see which drugs might help.’?”

Miguel landed the part and moved his family to Chicago, where he and Kelly connected with Citizens United for Research in Epilepsy to see how they could help others in their situation. Founded by Susan Axelrod, wife of political pundit David Axelrod, nearly 20 years ago, CURE is the nation’s largest nongovernmental organization funding epilepsy research.

The Cervanteses have since become a driving force in CURE (Kelly, a former events planner, serves on its board), as well as its new face (Miguel appeared in a CURE commercial). Miguel has put to use the platform his Hamilton role has afforded him. In April, he and members of the cast performed at a CURE gala, helping to raise $2 million. That same day, he released “?’Til the Calm Comes,” a song he wrote about Adelaide, with all proceeds going to CURE. Now Miguel is helping relaunch the My Shot at Epilepsy social media campaign. (Think the Ice Bucket Challenge, but instead of being doused with cold water, participants strike the familiar Hamilton pose—left arm shooting up the sky—to encourage donations.) “The endgame,” says Miguel, “is to put epilepsy in the same conversation as Parkinson’s and Alzheimer’s and ALS.”

Epilepsy is personal for ‘Hamilton’ star

As reported by CNN:

Miguel Cervantes and his wife, Kelly, welcomed daughter Adelaide in October 2015. They sensed that something was amiss early on.

“She wasn’t developing on a regular trajectory,” said Cervantes, who stars as Alexander Hamilton in the hit musical theater production “Hamilton” in Chicago. Soon after, Adelaide had a seizure.

“Then the terminology ‘epilepsy’ starts coming into the conversation about what’s wrong with her,” he said.

Actor Miguel Cervantes with his daughter, Adelaide, who has epilepsy. Actor Miguel Cervantes with his daughter, Adelaide, who has epilepsy.

When she was just 7 months old, Adelaide started having multiples seizures every day. She was diagnosed with infantile spasms, a serious epilepsy syndrome in infants that is frequently associated with developmental delays, according to the national nonprofit Epilepsy Foundation.

“The doctor said that ‘we don’t have any real treatment for this. We have some treatments that may or may not work, but there is no cure,’ ” he recalled.

While Cervantes was struggling with Adelaide’s care, he landed the lead role in the play. “It is the highest highs and the lowest lows all at the same time,” he said.

Take the challenge

Epilepsy is a disorder in the brain that causes seizures. According to the US Centers for Disease Control and Prevention, the cause is not always known but can be the result of a head injury, a brain tumor, a stroke or an infection in the central nervous system.

Motivated by his personal connection, Cervantes teamed up with Citizens United for Research in Epilepsy, commonly known as CURE, and the Epilepsy Foundation to raise awareness and funding for research during November’s Epilepsy Awareness Month.

Miguel Cervantes, star of the Chicago production of "Hamilton," says he was inspired by the show to get involved in epilepsy awareness. Miguel Cervantes, star of the Chicago production of “Hamilton,” says he was inspired by the show to get involved in epilepsy awareness.

Cervantes created the My Shot at Epilepsy Challenge, which urges people to take pictures in the “Hamilton pose” and donate to epilepsy research. They can share the pictures on social media, tagging friends using the hashtags #MyShotAtEpilepsy and #CUREepilepsy and challenging them to participate within 24 hours.

His aim, he said, is to get epilepsy into the mainstream conversation alongside other severe neurological disorders like Parkinson’s, amyotropic lateral sclerosis and Alzheimer’s.

“That is our goal and hope. We are here to help my daughter and to help other families that are also dealing with this kind of thing too,” he said.

Adelaide is 2 years old, but she functions much more like a newborn, Cervantes said. “She doesn’t sit or stand or talk or babble. We are always watching her to see if there is a seizure. We are always looking at her to see if there is any sign of regression,” he said.

“We have our bars very low for progress right now. Our hope is that if we can keep all the seizures under control, then any progress her brain can make due to whatever it is will begin to see itself,” he added.

Research gap

Epilepsy is the fourth most common neurological disease in the United States, according to the foundation. The CDC reports that in 2015, 3.4 million people were receiving treatment for epilepsy or had had one or more seizures in the past year.

Susan Axelrod, along with other parents of children with epilepsy, founded the nonprofit CURE in 1998 to address a lack of advocacy toward scientific research for the disease. “We looked to the National Institutes of Health and found that the budget there, was sadly, sort of reflected our lack of progress in the area,” she said. “We also looked to the private funders, and there was very little going on, very little interest amongst private donors.”

Axelrod too has a personal connection. Her daughter, now 36, started having seizures when she was 7 months old. “We spent the first 18 years of her life fighting the lack of understanding about the epilepsy disease, the stigma associated with it and most importantly our inability to stop her seizures, even if we were willing to tolerate pretty atrocious side effects from the medications,” she said.

Dr. Ajay Gupta, head of pediatric epilepsy at the Cleveland Clinic, said all epileptic medications have side effects and must be carefully monitored. “That’s why it’s really important when you make a diagnosis to have a very good discussion with the family,” he said. Side effects can include sleepiness, reduced muscle tone, tunnel vision and reduced sharpness of vision, he said adding that they can be irreversible.

Axelrod said that although her daughter has made tremendous strides, she will not be able to live independently and takes multiple medications every day.

“The diseases in which you see progress have strong strong advocacy groups behind them. Epilepsy did not,” she said.

“The awareness component is essential to making progress, to raising the dollars, building a community that will be great ambassadors, will be the people who participate in clinical trials when we get to that point,” Axelrod added.

And Cervantes is trying to do just that. “I can use Hamilton to get the message out that says this is something that needs to be more in the mainstream, more in the forefront and really talked about to see if we can get some better treatment so that people aren’t constantly on guard for, you know, seizures to come back because that seems like a terrifying way to live,” he said.