For Anthony Maita, 'Buddy' is not just any other dog.

"He's the best thing that's ever happened to me," says Anthony.

It's no wonder, considering Buddy was right by Anthony's side during one of the most challenging times of his life — when Anthony began having epileptic seizures.

Watch: When seizures don't stop: Anthony's battle against drug-resistant epilepsy

Journalists: Broadcast-quality video (2:38) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

"I started having the seizures, noticeable seizures, and from there, it just started getting worse and worse," recalls Anthony.

It began after Anthony graduated from high school. He was making plans for his future and looking forward to attending college. That's when the seizures began.

Initially, the seizures were mild but quickly became more severe. "The experience (seizure) is like a loss of time, like a blank spot in your memory — like you're waking up without any recollection of what happened," says Anthony.

"The seizures were several times a week. His lips would be blue. His mouth would be blue," says Patricia Maita, Anthony's mother. "It so hard to see your child go through that and feel so helpless."

Doctors tried to manage Anthony's seizures with medication, but nothing worked. Eventually Anthony was diagnosed with drug-resistant epilepsy, or DRE.

In search of hope, Anthony's family turned to Mayo Clinic in Arizona.

"Up to a third of patients who develop epilepsy during their life will become resistant to medication," explains Jonathon J. Parker, M.D., Ph.D., a neurosurgeon at Mayo Clinic who specializes in treating the most serious and complex cases of epilepsy, including DRE.

"These patients have tried at least two medications, and they're still having seizures. At that point, we know the chances of seizure freedom unfortunately become very low, and that's when we start looking at other options," says Dr. Parker.

A battle for millions worldwide

Anthony is one of approximately 50 million people worldwide diagnosed with epilepsy. It is one of the most common neurological disorders globally. It is characterized by recurrent unprovoked seizures caused by abnormal electrical activity in the brain.

Of those diagnosed with epilepsy, approximately 30%, or 15 million people, are considered medication-resistant. Uncontrolled seizures often rob many people of their ability to live and function independently.

While it is rare, seizures can lead to sudden unexplained death in epilepsy, or SUDEP. "We know that more frequent seizures mean the patient is at higher risk of SUDEP, so that's why we are very aggressive about treating epilepsy with all the tools we have available," says Dr. Parker.

Current treatment options for patients with DRE include surgical procedures such as brain resection to remove a portion of the brain tissue responsible for generating seizures. A less invasive procedure involves laser ablation therapy that pinpoints and destroys abnormal brain tissue. While often effective, these surgical approaches carry the risk of possible side effects, such as memory impairment, motor deficits and speech difficulties. 

Neuromodulation is another surgical approach that uses electrical or magnetic stimulation to interrupt abnormal neural activity without removing brain tissue.

Unlocking new hope for patients

Now, a growing number of scientists across the globe are part of an innovative trend in research, investigating novel ways to treat DRE. It involves the use of regenerative medicine as a "reparative" approach to help the brain heal. 

Dr. Parker is the lead investigator of the first-in-human clinical trial at Mayo Clinic which studies the use of implanted specialized inhibitory brain cells as a potential reparative treatment for DRE. Dr. Parker's clinical trial is underway in Arizona.

Mayo Clinic in Arizona is one of 29 sites nationwide participating in the inhibitory brain cell implant clinical trial for patients with focal epilepsy, where seizures originate in a specific region of the brain. 

Anthony became Mayo Clinic's first patient to undergo the investigational brain cell implant. 

"We use a very minimally invasive technique where we inject the inhibitory cells through a pencil eraser-sized incision in the back of the head. Our hope is that, over time, these cells become part of the brain and help repair the neural circuitry, and reduce or prevent seizures without the side effects," says Dr. Parker. The cells are implanted in a one-time, single-dose procedure.

"Honestly, it was pretty easy," says Anthony. "I had no trouble with it." Anthony was discharged from the hospital the next day.

Doctors say it is still too early to determine whether the brain cell implant was effective, but they are hopeful.

"Anthony has been doing great since the procedure," says Dr. Amy Z. Crepeau, a neurologist at Mayo Clinic. "We have a great deal of optimism in regard to the potential of this brain cell therapy. Developing a safe and effective, minimally invasive treatment that does not carry the possible negative side effects could be a game changer in treating patients with DRE and improving their quality of life."

Tabitha's life-long struggle to control seizures

Tabitha Wilson lives in fear, never knowing when or where the next seizure will strike.

The Florida resident was diagnosed with epilepsy at the age of 2. She was placed on medication that adequately managed her seizures — until the week before her high school graduation. 

"I was 17 years old sitting in history class when the seizure happened," recalls Tabitha. "They had to load me up in an ambulance in front of the whole school."

Tabitha tried new types of medications, but the seizures only got worse.

"I fell down a flight of stairs, burned myself while cooking. I've completely blacked out and don't know where I am or who you are," says Tabitha. She was eventually diagnosed with drug-resistant epilepsy.

Tabitha underwent three brain surgeries to treat her DRE. Still, the seizures continued.

"I'll have good days and bad days. Some days, I'll have two, three, four seizures, back-to-back," says Tabitha.

Her uncontrolled seizures have robbed Tabitha of the ability to live independently. "I can't drive. I can't cook. I can't go swimming alone. I can't take a bath, only a shower and if someone is home with me," says Tabitha.

Watch: Tabitha Wilson shares what it's like to live with drug-resistant epilepsy.

Tabitha turned to Mayo Clinic in Florida where she learned about a clinical trial also investigating the potential of regenerative medicine as a possible treatment for DRE.

Dr. Sanjeet S. Grewal, director of stereotactic and functional neurosurgery at Mayo Clinic, is leading a team of researchers studying the use of implanted stem cells in conjunction with deep brain stimulation for patients like Tabitha.

Deep brain stimulation is one of the most recent FDA-approved methods of neuromodulation therapy for epilepsy. Studies show that patients who undergo deep brain stimulation experience median seizure reduction up to 70% after five years. However, Dr. Grewal says it is uncommon for patients to become seizure-free. 

"Unfortunately, neuromodulation doesn't give us the seizure freedom we want, and that's why we are trying to combine deep brain stimulation with stem cell therapy to see if we can increase the efficacy of neuromodulation," he says. 

Tabitha became the first patient to undergo the investigational treatment. Dr. Grewal says she is also the first person in the world to undergo surgery for deep brain stimulation and receive stem cell therapy in the thalamus in her brain as a potential treatment for DRE. 

Watch: Dr. Sanjeet Grewal, neurosurgeon, explains how Mayo researchers are leading a new trend in research for treating patients with drug-resistant epilepsy.

The clinical trial involves the use of mesenchymal stem cells, a type of adult stem cell that has anti-inflammatory properties. MSCs may also support tissue repair and healing. Further scientific research is needed to confirm their therapeutic potential in the field of regenerative medicine.

The MSCs used in the clinical trial are derived from fat tissue and created at the Human Cell Therapy Laboratory at Mayo Clinic in Jacksonville, Florida under the leadership of Abba Zubair, M.D., Ph.D., a pioneer in cell therapy.

Dr. Zubair's research teams have developed a cost-effective method of producing MSCs for use in potential treatments for conditions such as stroke.

Dr. Zubair has also led innovative research, including sending stem cells to the International Space Station to investigate how microgravity impacts their growth.

"My mission is to discover ways to address problems that patients have been struggling with and find a solution for them.
I believe the future is bright. "

Dr. Abba Zubair, Pioneer in Cell therapy, Mayo Clinic in Florida

Dr. Zubair has several research projects scheduled to launch into space in 2025.

"MSCs are what we call multipotent, meaning they can differentiate into different cell types based on where they're placed. If they are placed near blood vessels, they can become blood vessel types. If they're placed by heart cells, they can become heart cell types," explains Dr. Grewal.

The hope is the MSCs eventually become neural or brain cell types and interact in the part of the brain where the seizures occur. "It's called paracrine signaling, where they're releasing signals to the brain tissue around them and interacting in a way to try to repair that tissue."

Since undergoing the procedure, there has been an improvement in Tabitha's seizure management. However, Dr. Grewal says it is too early to know whether this is due to the deep brain stimulation, stem cells or both. 

Drs. Grewal and Parker say there is still a long road ahead to determine whether these cell therapies are proven safe and effective for patients with DRE. But they agree each day brings them one step closer to a potential treatment or cure for patients like Tabitha and Anthony.

"We've thought about this for generations, we just didn't have these technologies to enable it. Now we do," says Dr. Grewal. "So, whether it's wound healing, neurodegeneration, epilepsy or stroke, there are so many different studies going on investigating the potential of regenerative or reparative therapies."

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• Mayo Clinic researchers lead transformative shift toward neurorestorative treatment strategies for most severe forms of epilepsy
• Epilepsy Treatment
• Minimally invasive epilepsy treatment
• Mayo Clinic Minute: Demystifying epilepsy
• Epilepsy Surgery
• Laser ablation surgery helps treat young man’s epilepsy

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DEAR MAYO CLINIC: My son is in his 20s and has had epilepsy for years. He had undergone extensive evaluation over a decade ago. Lately, his medication hasn't been effectively preventing seizures. What are some of the innovations available to provide him the chance of seizure freedom and improve his quality of life?

ANSWER: An epilepsy diagnosis can be challenging for anyone. Epilepsy can be frustrating because of the unpredictability of seizures and the challenge many people have with medication.

The good news is that over the last two decades we have made several advances in both diagnosing and treating epilepsy. From a diagnostic standpoint, we have a better understanding of the genetic basis of epilepsy, with the discovery of multiple epilepsy genes guiding treatment decisions. Advances in imaging mean higher-quality brain scans that can help us better pinpoint a patient's seizure focal point and improve chances of providing seizure freedom. Soon we also hope to forecast or predict when seizures will occur.

If your son has not had continuing care with a neurologist or epilepsy specialist, I would recommend that he consider an evaluation at a specialized epilepsy center that can provide a comprehensive team approach to his care. The National Association of Epilepsy Centers rates Mayo Clinic as a Level 4 epilepsy center because of the availability of the broadest range of diagnostic and treatment options for people with epilepsy. Mayo Clinic epilepsy care teams have experience treating epilepsy to eliminate seizures or reduce the frequency and intensity of seizures in children and adults.

As far as treatment advancements, there have been many improvements over the last several years. There has been a significant increase in the number of antiseizure medications coming to the market. There are now more than 25 different medications, which are much safer and more effective in controlling seizures.

When medicines cannot adequately control seizures, patients now have a number of other advances to help them, including minimally invasive laser surgery, which uses a laser probe and thermal ablation to destroy epileptic tissue, and deep brain stimulation, which can significantly reduce seizures in people whose epilepsy is difficult to treat. Also, patients who may have focal epilepsy and are not surgery candidates have other options for care.

Another recent advancement is the ability to use implantable electrical devices that act like pacemakers of the brain. One of these devices can sense abnormal electrical brain activity and then deliver an electric current to stop seizures. The amount of stimulation is controlled by a wire that travels under your skin near the chest and connects this device to the electrodes in your brain.

In addition, there is exciting research that is happening related to epilepsy, including clinical trials looking at new therapies.

Having uncontrolled seizures can be extremely frustrating, but given the advances in recent years, seeking out expert care for a second opinion may be valuable for your son as he ages so he can find a better quality of life. — Dr. Anteneh Feyissa, Neurology, Mayo Clinic, Jacksonville, Florida

****************************

Related Articles 

• Mayo Clinic Minute: A surgery option when epilepsy treatments don’t work published 2/6/23
• Consumer Health: Epilepsy — causes and risk factors published 11/17/22
• Mayo Clinic Minute: Demystifying epilepsy published 11/8/22
• Ask the Mayo Mom: Navigating a new epilepsy diagnosis published 11/4/22
• Expert Alert: Laser therapy brings the heat to minimally invasive epilepsy treatment published 4/29/22
• Responsive neurostimulation helps Carlos Martinez help others with epilepsy published 3/25/22
• Mayo Clinic Minute: What is a ‘brain pacemaker?’ published 2/21/22

The post Mayo Clinic Q and A: Advances in care for medication-resistant epilepsy appeared first on Mayo Clinic News Network.

Epilepsy is a central nervous system, or neurological, disorder. Brain activity becomes abnormal, causing seizures, or periods of unusual behavior, sensations, and sometimes loss of awareness. Anyone can develop epilepsy.

Treatment isn't one-size-fits-all. Different challenges can affect different patients. See how Martinez and his Mayo care team turned to responsive neurostimulation, an innovative treatment approach.

Watch: Responsive neurostimulation helps a young man who wants to help others with epilepsy.

Journalists: Broadcast-quality video (3:54) is available in the downloads at the bottom of the post. Please "Courtesy Mayo Clinic News Network." Read the script.

"I used to be a very independent person. And then once I started having seizures, it really affected me. I started feeling a disconnect between my mind and my mouth. And I didn't know what was going on. And I was like, 'What's happening," says Martinez.

Dr. Matthew Hoerth, a Mayo Clinic neurologist, has been working closely with Martinez and his family.

"This area where seizures are coming from is an area called the insula. If you think about looking at the brain from the side, you have that kind of that line — that kind of cleft that goes through the side of the brain. And if you were to imagine pulling that open and looking deep inside there, that's where his seizures came from. It's like in this deep area that's very difficult to get to, and there are some vital functions of the brain that happened in that area," says Dr. Hoerth.

Martinez says his diagnosis hasn't just affected him. "Epilepsy also affects my family. It's unfair to them. But we just keep moving forward," says Martinez.

"A responsive neurostimulator device is a device that gets implanted into the brain itself," says Dr. Hoerth. "The device sits within the skull, and we put the electrodes into the area of the brain that the seizures are coming from. It watches the brain wave patterns, and depending on what we tell it what a seizure looks like with that brain wave pattern, it will then recognize that pattern and then shock the brain to get that seizure to essentially stop before a patient feels it."

"After my implant surgery, I recovered very well," says Martinez. "And now I'm taking classes. And I just want to keep going."

"His outlook on life and his ability to bounce back from those seizures and still push ahead, it's really inspiring," says Dr. Hoerth. "This has really been a breakthrough in our treatment of patients with epilepsy — to be able to do these advanced devices in areas of the brain that we cannot resect. We have reduced the number of seizures. They haven't gone to zero, but his seizures have become less severe. It's allowed him to do a lot more in terms of his getting through school, interacting with his family, just feeling like himself. But I think even beyond the actual numbers and severity of seizures that have reduced, I think it's given him hope."

With his own treatment underway, Martinez has turned his sights on helping others his age who may be facing the same situation.

"My goal when it comes to being a person with epilepsy is to also be a guide. Because I understand the feeling of being lost, and I know that darkness. I need to do something about this. I need to share my story. So I started a YouTube channel. I need to share what I've been through, and maybe other people will share their experiences, too. It makes me feel amazing," says Martinez.

For the safety of its patients, staff and visitors, Mayo Clinic has strict masking policies in place. Anyone shown without a mask was recorded prior to COVID-19 or recorded in an area not designated for patient care, where social distancing and other safety protocols were followed.

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Epilepsy is a neurologic disorder that affects 3 million Americans and nearly 65 million people worldwide. Unprovoked seizures that affect people of all ages are a hallmark of epilepsy. November is National Epilepsy Awareness Month.

Education and awareness are key to effective treatment and quality of life for patients with epilepsy.

"Epilepsy is often considered a pejorative term by many people because it seems to convey a certain sense of negativity or stigma. The truth is epilepsy and seizure disorder are technically the same thing, and with the right treatment, patients can have a good quality of life," says Dr. Joseph Sirven, a Mayo Clinic neurologist.

Not all seizures are the same

A seizure is an abnormal electrical communication, almost like a power surge, that occurs in the cortical neurons in the brain. The cause of the surge may vary. "Oftentimes, it can be something as common as prescription medication. But a head injury or a big shock to the system, such as with a stroke or a brain tumor, can cause the imbalance, too. There are a lot of different possibilities," says Dr. Sirven.

As the population ages, doctors also are finding neurodegenerative disorders, including dementia and Alzheimer's disease, can contribute to seizures.

The biggest misconception around epilepsy is that all seizures are the same.

"Seizures can present in so many ways. Most people, when they hear the word seizure, think of a big convulsion and falling down very dramatically," explains Dr. Sirven. "In reality, only a percentage of patients have what are known as grand mal or tonic-clonic seizures. There are a lot of other possibilities, too, such as people who may stare and may not respond, or they may lose vision for a moment or develop a certain repetitive tremor."

New advances in care

Over the past few decades, significant advances have been made in treatments for patients with seizures and epilepsy.

"People with epilepsy have many options today. As a comprehensive epilepsy center, Mayo Clinic has the ability to offer patients all the options available, from medications and devices, which are like pacemakers for the brain, to surgery," says Dr. Sirven.

Epilepsy surgery is curative for up to 80% of patients, he adds. "When we know where a person's seizures are coming from and determine we can safely resect it ― or bypass the areas ― surgery can lead to complete seizure freedom, and that is huge."

Watch: Dr. Sirven discuss epilepsy.

Journalists: Broadcast-quality sound bites with Dr. Sirven are available in the downloads. Please courtesy, "Joseph Sirven, M.D. / Neurology / Mayo Clinic."

Future focus

As the incidence of epilepsy continues to rise, researchers are working to find new ways to manage and treat the condition.

One priority area is seizure prediction.

"This is a huge focus because one of the things that people complain about the most is that there's no prediction as to when the next seizure is going to occur. And if they knew when a seizure is going to occur, they would be able to do something about it," says Dr. Sirven.

Also, scientists are working on treatments to address seizures caused by an immunological condition.

"We're uncovering more about antibodies circulating in the body that are leading to seizures in some people," says Dr. Sirven. "We are beginning to look at treatments, which are going to be very different from the current anti-seizure drugs. These are going to be all about calming the immune system down and trying to reduce inflammation in the brain."

The post Epilepsy and seizure disorder awareness appeared first on Mayo Clinic News Network.

Epilepsy is one of the most common neurologic conditions, affecting about 3 million Americans. Two-thirds of patients get some relief from medications.

"But that leaves a third or roughly a million people with epilepsy who, despite taking medicine – say, twice a day, every day – continue to have seizures," says Dr. Gregory Worrell, a Mayo Clinic neurologist.

"I tried numerous medications that weren't working," says Chris White, who's lived with epilepsy since birth. "There's a constant fear of what's going to happen today."

For White, relief came in the form of high-tech brain stimulation that was developed and approved for treating conditions such as chronic pain and Parkinson's disease.

The result was a remarkable transformation.

"My life has changed 180 degrees," White says with a smile on his face. "I've been able to become employed full time, with benefits. I'm able to be anywhere. I can think of having a family."

Watch: Epilepsy patient married and seizure-free after new treatment at Mayo Clinic

Journalists: Broadcast-quality video pkg (2:51) is in the downloads. Read the script.

White says he is counting new blessings these days. Among these blessings is his new wife, Tina.

"She's amazing," he says. "You know, full of life, always there, you know, caring, outgoing. Just phenomenal."

Getting married – even close relationships – were something White thought may never be possible.

"I had a stroke when I was born, and, as a result of that, I developed epilepsy," he says.

"Chris was having multiple seizures a week," says Dr. Worrell. "But, even if it's one seizure a month or one seizure every couple of months, it still is very impactful on how people live their lives."

"You can't drive," says Dr. Matt Stead, a Mayo Clinic pediatric neurologist. "You can't swim alone. You can't bathe alone. And people don't – they fear having seizures at work, things like that."

"It feels like you never know what's going to happen if you're even going to be able to maybe leave the house," White says.

Dr. Jamie Van Gompel, a Mayo Clinic neurosurgeon, says most epilepsy patients respond well to medications for controlling their seizures.

"They affect how electricity runs around the brain. And, obviously, epilepsy is a form of bad electricity in the brain," he says.

Dr. Worrell says there are roughly 30 medications currently available for epilepsy patients.

Unfortunately, none worked for White. So a team of specialists at Mayo Clinic looked for other solutions to help him.

"Well, for medically refractory epilepsy, the standard of care is brain resection, and it still is," Dr. Stead says.

Resection means cutting out the area of the brain where the seizures originate.

"By putting electrodes directly in the brain, we identified where his seizures were coming from," Dr. Worrell says.

"And it took a long time to figure out exactly where the seizure was coming from," Dr. Van Gompel says. "And it turns out it was coming from an area just below speech in the insula."

"So, while it may alleviate the seizures, the patient would be left with speech problems or motor problems, or visual problems, language problems – those kinds of things," Dr. Stead says.

Since removing the source of the erratic electrical signals was too risky, the Mayo Clinic team decided to try to suppress them with continuous mild brain stimulation of another kind.

"We continuously deliver relatively low-amplitude, low-frequency pulses to the regions of the brain that are causing the seizures," Dr. Stead says.

Dr. Van Gompel says White had no other good options.

"The device that we actually, technically implant is typically used for pain – for spinal cord stimulation," Dr. Stead says.

For White, the results were immediate. Except for one episode triggered by a car accident, he's had no more epileptic seizures.

"It's pretty powerful therapy, we think," Dr. Van Gompel says.

"Mayo probably has saved my life," White says.

"So we're unaware of anybody being treated this way anywhere else," Dr. Van Gompel says. "But at least here, the number is less than 20."

Which brings us back to White counting his blessings – and not just his own.

"Overly ecstatic I'm able to partake in something like this that hopefully can help someone else and not just me," White says.

"The feasibility and the safety – that we can control that region of brain and keep the patient from having seizures – that's really exciting," Dr. Worrell says.

The implant White received differs from standard brain stimulation treatments for epilepsy, which generally deliver electrical currently intermittently and only after detecting the onset of a seizure.

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