CURE Ally Dr. Marcelo Diaz-Bustamante Works to Find a CURE for his Daughter’s Epilepsy

Dr. Marcelo Diaz-Bustamante of Johns Hopkins University is not only a devoted father; he is also a devoted researcher studying infantile spasms, a severe form of childhood-onset epilepsy. Dr. Diaz-Bustamante’s daughter Myriam was diagnosed with the disorder in 2016.

Infantile spasms is a hard-to-treat form of epilepsy that normally starts in the first year of life and is characterized by subtle seizures, abnormal brain activity, and developmental delay or regression.

Faced with Myriam’s daunting diagnosis, Dr. Diaz-Bustamante had his daughter’s genes sequenced as part of CURE’s Epilepsy Genetics Initiative (EGI). EGI examines genetic information to uncover the causes of epilepsy and advance precision medicine. Amazingly, gene sequencing pinpointed the cause of Myriam’s infantile spasms to a mutation in a GABA receptor, which is a type of neuronal receptor important in maintaining the balance of excitatory and inhibitory activity in the brain. After learning of this mutation, Dr. Diaz-Bustamante changed his research focus to devote himself to studying this infantile spasms-causing mutation.

Since his daughter’s diagnosis, Dr. Diaz-Bustamante has formed a deep connection with CURE. He has hosted a CURE-sponsored seminar at Johns Hopkins University and has participated in CURE’s Day of Science events. Dr. Diaz-Bustamante credits CURE with providing both education about and a human face to epilepsy, creating a feeling that he and his family are not alone in their fight.

In fact, Dr. Diaz-Bustamante believes the biggest challenge facing parents whose child has been diagnosed with infantile spasms is a lack of hope; “It is difficult to remain hopeful with all of the scary information available on the internet, coupled with many pediatricians’ lack of knowledge about the disorder.” Still, he is hopeful about the future of epilepsy research, noting that growth in the field over the past 10 years has been exponential with heightened understanding of epilepsy and increased research into new treatments and therapies.

While Myriam has gone through more than 5 different types of treatments and therapies to control her spasms, we are happy to report that she is finally experiencing some improvement. However, Myriam still has a long road ahead of her. There is a continuing need for the devotion of research and resources to uncover the causes of childhood epilepsy. As Dr. Diaz-Bustamante notes, “We have the tools to investigate the causes of epilepsy, but if there isn’t enough money for research, we can’t investigate potential treatments.” CURE agrees. We thank Dr. Diaz-Bustamante for his devotion to finding a cure for infantile spasms.

Neurosurgeon’s Work and Life Featured in The Lancet

Dr. Dennis Spencer’s journey from the cornfields of Iowa to chairmanship of the neurosurgery department at Yale is featured in a series of articles published in the journal The Lancet Neurology.

Spencer investigates intracranial networks in epilepsy, and proposes to link these with the psychiatric disorders so commonly seen as comorbidities in patients with epilepsy.

The journal profiles Spencer’s journey from the farm community of Bedford, Iowa to Yale School of Medicine, where his efforts to surgically repair devastating effects of focal epilepsy have led to new insights into the disorder afflicting nearly 50 million people worldwide. Also featured are his review articles on molecular links between epilepsy and psychiatric disorders such depression and anxiety.

People with epilepsy are at much greater risk of mental illness than the general population. “We argue that focal epilepsy is not focal but a network disorder which overlaps with other neuropsychiatric disorders,” Spencer said. “The hope is that someday we will be able to treat both simultaneously.”

Human interest story: New Brain Implant Technology is Life Changing for Patient with Epilepsy

With one glance, you would never guess what 25-year-old Aimee Buckley of Pocatello, Idaho, has been through.

She was diagnosed with epilepsy when she was 8 years old. Seizures became her routine. “I’ve lived with them almost my entire life,” Buckley said.

Her father, Lynn Buckley, said it was tough. “There literally was one year where she hardly got out of bed,” he said.

She tried every treatment her doctors offered, but nothing worked. Unfortunately, the medications she tried made her sick. At age 14, Aimee Buckley underwent resective brain surgery removing part of her brain tissue, but to no avail.

Finally, Intermountain Healthcare’s Dr. Tawnya Constantino at Intermountain Medical Center offered Aimee Buckley a new treatment called RNS, or responsive neurostimulation. In 2016, a neurosurgeon implanted the device into her skull. “When the device detects that seizures are starting, it actually administers a stimulation to that electrode in an attempt to stop the seizures from developing,” Constantino said.

Constantino said the NeuroPace option seemed like a good fit for Buckley because Dr. Constantino had already identified the general location causing Buckley’s seizures, making it easier to prevent further seizure activity. “They don’t feel it going off. They don’t hardly know it’s there,” Constantino said.

Since then, Buckley is proud to say she has almost been seizure free. She had a couple minor seizures she was not aware of but were recorded on her device.

Human interest story: Girl is Seizure Free After Treatment for Autoimmune Epilepsy

In the Fall of 2010, Toya and her husband Dr. Anthony Johnson, pastor at Prayer Temple Missionary Baptist Church in Redford, Michigan, were getting ready to go to church. Their plans took a dramatic turn when their 5-year-old daughter, Alyse, had the family praying on their way to a local emergency department after her body started shaking, her eyes rolled back and her mouth shifted to one side.

After two weeks of seizures, doctors prescribed an anti-seizure medication, but Alyse still had seizures daily. She was treated for epilepsy with additional antiepileptic drugs (AEDs) and increased doses but her condition worsened. She started losing her ability to walk and talk.

In September 2014, Alyse was evaluated by Mitchel T. Williams, M.D., pediatric neurologist at the Children’s Hospital of Michigan, who specializes in the developing field of neuroimmunology and epilepsy.

“Inflammation plays a role in epilepsy. Anywhere from 10 to 20 percent of intractable focal epilepsy cases are due to an underlying autoimmune cause. That is a huge percentage,” says Dr. Williams.

After finding out that family members had autoimmune disorders, Dr. Williams suspected that in Alyse’s case, there was such an underlying cause making the steroids ineffective in fully addressing her issues.

Further testing showed that Alyse had seizure activity during 85 percent of her sleeping time. The treatment plan? Intravenous immunoglobulin (IVIG) for autoimmune epilepsy which involves administering a sterile solution of concentrated antibodies extracted from healthy donors into a vein. “IVIG does not suppress the immune system, it bolsters it,” says Dr. Williams. “You are gaining antibodies from many other people. It in essence tames the immune system and diffuses the abnormal response.”

Since her IVIG treatments over 3 year ago, Alyse takes fewer antiepileptic drugs and she continues her IVIG treatments twice a month at the Children’s Hospital of Michigan. Thanks to the success of the IVIG treatments, Dr. Williams has also weaned Alyse off the steroids which caused side effects such as weight gain and diabetes.

Paint the World Purple with CURE

Purple Day® is March 26, and CURE invites you to paint Facebook, Twitter, and Instagram purple! CURE will be showcasing art created by our community from March 25-31. Please submit your ORIGINAL artwork to info@CUREepilepsy.org by March 16 for consideration.

You can make a difference. Let’s get the world talking about epilepsy, shatter the myths, and remind those affected – they aren’t alone.

Not artistic? You can still participate!

Create a Facebook fundraiser and raise important funds for epilepsy research. Or share CURE’s social media posts throughout the last week of March. The more people learn about epilepsy, the more understanding there will be!

Purple Day® is a registered trademark owned by The Anita Kaufmann Foundation.


Original artwork by Richard Davis

‘Hamilton’ star and his wife focus on hope while raising awareness for epilepsy

This article features insight from CURE Chief Scientific Officer Dr. Laura Lubbers.

Miguel Cervantes felt numb.

He had just finished his third, and most critical, audition in New York City for “Hamilton: An American Musical,” the most popular Broadway show of our time. He left it all on that audition stage. Everyone within earshot stopped what they were doing to watch or listen. It was that powerful.

Cervantes understood it was his once-in-a-lifetime shot to portray the hit musical’s lead character, Alexander Hamilton, in the upcoming Chicago show. It could take him from relative obscurity to realized dream. Still, he had one unshakable thought on his mind.

His thoughts focused on his baby daughter who had just been hospitalized with an unknown ailment. And an unknown future.

At 9 months old, Adelaide was diagnosed with epilepsy, confirmed later as a severe, incurable form known as Infantile Spasms. It’s a rare epilepsy syndrome that can have profoundly negative long-term consequences including severe developmental and cognitive delays.

“Miguel and Kelly are facing many unknowns, which can be disappointing,” says Laura Lubbers, chief scientific officer for Citizens United for Research in Epilepsy, or CURE. “Infantile Spasms is rare, but clearly very catastrophic.”

The couple has partnered with the Epilepsy Foundation and CURE to host the #MyShotAtEpilepsy Challenge to promote awareness and raise funds. It encourages supporters to strike a Hamilton-like pose, take a photo, share it on social media and make a donation to the cause.

Skate for Alex

 

Alex Askenazy, a sophomore at Union College, passed away on October 8, 2017 due to complications from epilepsy. He was a biochemistry major who served as goalie on the school’s club hockey team and president of the fencing club.

Alex’s fraternity organized Skate for Alex, a fundraiser held February 11 at the school’s skating rink, to honor his memory.

Learn more about Skate for Alex through local news coverage:

 

Alex’s friends and family are continuing to fundraise to support our shared mission to find a cure for epilepsy. Please help them honor Alex’s memory with a contribution to CURE. Your tax-deductible gift will fund critical epilepsy research and make a difference in the lives of the 3 million Americans and 65 million people worldwide touched by epilepsy.

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.

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