When Dr. Bobby Mukkamala found himself on the other side of the exam table, he relied on the cutting-edge surgical techniques at Mayo Clinic to get him back to his professional work. 

While presenting at a professional meeting, Dr. Bobby Mukkamala, normally an eloquent speaker, began speaking incoherently for about 90 seconds. 

"Given my age of 53 at the time, I thought it was a 'senior moment,'" says Dr. Mukkamala, an otolaryngologist and head and neck surgeon from Flint, Michigan. 

His colleagues suspected he was having a stroke and convinced Dr. Mukkamala to go to a nearby emergency department for evaluation. Doctors suggested he may have had a transient ischemic attack, or ministroke. They recommended an MRI when he returned home.

That scan revealed something far more serious: a brain tumor. His journey as a patient had begun — and it would ultimately lead him to Mayo Clinic. 

Finding the right brain cancer care

After sharing the news with his family, Dr. Mukkamala tapped into his professional network. "Within a week of my diagnosis, I had half a dozen Zoom calls with neurosurgeons around the country," he says. "They were all wonderful with similar but slightly different perspectives on how to approach my case."

One call, however, stood out — his conversation with Dr. Ian Parney, (pictured here) a neurosurgeon at Mayo Clinic in Rochester, Minnesota and member of Mayo Clinic Comprehensive Cancer Center.

Dr. Parney knew the tumor was large, complex and near critical speech areas in the brain. "It was important to Dr. Mukkamala to protect those areas," says Dr. Parney.   

Unlike other surgeons who recommended two brain surgeries, Dr. Parney recommended a single awake craniotomy with speech mapping. During the procedure, the patient answers questions, and brain activity is monitored. This helps surgeons avoid damaging parts of the brain responsible for speech. His extensive experience — about 200 similar brain tumor procedures per year — gave hope to Dr. Mukkamala that the single operation was the best choice.

"Dr. Parney spent time answering every question we had," Dr. Mukkamala says. "That is what healthcare should be. As soon as we got off the call, my wife and kids said, 'That's it. That's where you're going.'"

Using advanced surgical techniques to guide care

In December 2024, Dr. Mukkamala underwent an awake craniotomy with speech mapping. The surgical team also used an intraoperative MRI. This advanced imaging technique provides real-time, high-resolution MRI scans while the surgery is in progress. 

"We do an MRI during the procedure to get the most accurate image so that we can remove the tumor safely," says Dr. Parney. Integrating functional imaging into image-guided systems in the operating room is a technique that Dr. Parney's team develops and tests to improve patient safety. He also correlates these techniques with novel strategies such as intraoperative electrophysiological mapping (using electrodes or electrical simulation to identify and preserve functions) and fluorescence-guided resection.

In Dr. Mukkamala's case, as part of the speech mapping, Dr. Nuri Ince, a professor of neurosurgery and biomedical engineering at Mayo Clinic, provided a novel electrocorticography technique that showed critical areas of function without requiring direct cortical stimulation (electrical signals to the brain's outer layer), as is usually necessary.

Dr. Parney and his colleagues were able to remove more than 90% of Dr. Mukkamala's tumor without damaging the speech areas. Six weeks after surgery, he was once again speaking professionally and confidently to large groups.

Coordinating multidisciplinary cancer care

Dr. Mukkamala's cancerous brain tumor was a low-grade IDH-mutant astrocytoma. This type of brain tumor arises from astrocytes (a type of glial cell in the brain) and carries a mutation in the IDH (isocitrate dehydrogenase) gene. 

After surgery, Dr. Mukkamala met Dr. Ugur Sener, a neuro-oncologist at Mayo Clinic, who prescribed a new targeted drug to treat any remaining cancerous cells. The less toxic therapy allowed Dr. Mukkamala to avoid chemotherapy and radiation, which are standard treatments for brain cancer that can cause side effects such as fatigue and nausea. 

"We've built one of the largest brain tumor practices in the world here at Mayo," Dr. Parney says. "We have the right resources and the right teams in place to provide cutting-edge therapies and holistic care."

Bringing new 'tumor wisdom' to the bedside

While his life today looks much like it did before his diagnosis, Dr. Mukkamala says his perspective is forever changed by his experience. "I used to be more science than emotion, but I've learned there's room for both," he says. 

Dr. Mukkamala was alone when he received the news that he had cancer, much like most of his patients were when he delivered hard news. "It never occurred to me before that it was a problem to share a diagnosis when a patient was alone," Dr. Mukkamala says. He now tries to ensure his patients have support. 

It's one of the many lessons he attributes to "tumor wisdom." "My brain may be a little smaller," says Dr. Mukkamala, "but I think it's happier and wiser."

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Fifty-four-year-old Chris Sams of Arizona has been living with coccidioidomycosis, more commonly known as valley fever, for nearly a decade. When his symptoms worsened and standard treatments failed, he turned to Mayo Clinic's Cocci Clinic in Arizona — one of the few centers in the country that treats the most advanced and complicated cases.

Now, on a more aggressive antifungal treatment, Chris says Mayo Clinic's multidisciplinary team approach has made all the difference.

Valley fever can be serious, especially when it spreads beyond the lungs. In rare cases, as it did with Chris, the coccidioides infection can reach the brain and cause neurological damage, requiring intensive treatments.

Watch: When valley fever spreads - Meet Chris and his complex case

Journalists: Broadcast-quality video (3:00) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

"I think I was biking up to 150 miles a week. I was biking quite a bit, lot of wind, lot of sand, lot of dust," says Chris.

That dust may have carried fungal spores that infected Chris with valley fever — a lung infection caused by breathing in spores that live in the soil but can become airborne.

"I was always sick. I was worn down. I lost a massive amount of weight. And that's really what threw us over the edge, is that something was going wrong," he says.

He ended up in the hospital.

"They put me in isolation floor because they didn't know if I had cancer, tuberculosis or if it was the continuance of valley fever," he recalls.

Tests confirmed it was valley fever, also known as coccidioidomycosis or cocci. The majority of people who get cocci recover well on their own, but in a small number of people, like Chris, the fungal spores can spread beyond the lungs, causing severe or even life-threatening symptoms.

"Less than 5% of people have it spread outside of the lung. It can go to many different places: bones, soft tissues and potentially the central nervous system. And, unfortunately, while it is a small percentage of people, when it does get into the central nervous system, it causes potentially devastating consequences," says Dr. Marie Grill, a Mayo Clinic neurologist.

In Chris' case, the spores had spread to his brain. That's when he sought help at Mayo Clinic's Cocci Clinic in Arizona, where a multidisciplinary team of specialists treats the most serious and complex cases of valley fever.

"Now we have our roadmap. We have a direction on where we're going — because otherwise, everything is just spiraling out of control," says Chris.

He began undergoing a special treatment delivered every few weeks right to his brain.

"It's an antifungal medication which can be delivered intravenously but can also be delivered directly into what we call the intrathecal space, which is essentially directly into the spaces where we have the spinal fluid," explains Dr. Grill.

The good news is doctors say Chris is showing signs of improvement.

"They think that there is an end in sight and hopefully we will wean off the intrathecal treatments. I mean, we've weaned it down to every two weeks," he says.

Doctors have yet to determine how long the treatments will need to continue, but Chris is confident he's heading in the right direction, with the right team.

"I have the best committed team around that talk to me, care about me, talk to me as a person and want me fixed."

While the Cocci Clinic cares for patients with serious cases of valley fever, Mayo Clinic is also advancing the field with a faster, more accurate test to speed up diagnosis and treatment.

Related post:

• (VIDEO) Faster diagnosis for valley fever: New test in development

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Just one day after undergoing brain shunt surgery at Mayo Clinic, 75-year-old Minoo Press put his wheelchair aside and walked out of the hospital on his own. For the first time in two years, his mind was clear. His balance had returned. He was no longer losing control of his bladder. 

The significant turnaround followed two years of steady cognitive and physical decline. A retired engineer known for his sharp mind and independence, Press gradually withdrew from daily life. Even simple routines became impossible. 

He visited leading medical centers across the country, undergoing spinal taps, surgical procedures and advanced imaging to evaluate for conditions ranging from Alzheimer's disease to Parkinson's. 

Some clinicians at those institutions also considered normal pressure hydrocephalus, a condition in which excess fluid builds up in the brain. But because Mr. Press' symptoms overlapped with signs of neurodegenerative disease, the doctors could not confirm the diagnosis or recommend surgery. They told him there was nothing more they could do. 

From rapid diagnosis to life-changing care

After an exhaustive search for answers, Press' family brought him to Mayo Clinic where he was evaluated by Dr. David Jones, a neurologist and director of Mayo Clinic's Neurology Artificial Intelligence Program.   

Dr. Jones used an innovative artificial intelligence tool developed by his team, called StateViewer. The tool works with a widely available brain scan known as fluorodeoxyglucose positron emission tomography, or FDG-PET, comparing a patient's brain activity to thousands of confirmed dementia cases. It highlights patterns linked to nine types of the disease — from Alzheimer's and frontotemporal dementia to less common forms with overlapping symptoms. 

In a recent study published in Neurology, the tool identified the correct dementia type in 88% of cases and helped clinicians interpret scans up to three times more accurately and twice as fast as standard methods.  

In Press' case, the tool helped Dr. Jones rule out Alzheimer's and other types of dementia. That was the turning point.  

With neurodegenerative disease ruled out, Dr. Jones diagnosed Press with normal pressure hydrocephalus and confirmed that he was a candidate for a shunt procedure to relieve the pressure on his brain and potentially reverse the symptoms.  

A last-minute surgical cancellation made it possible for Press to have the procedure that same week.

Within three days at Mayo Clinic, he had a clear diagnosis, a treatment plan and underwent brain surgery to place a shunt that would drain excess fluid from his brain. The procedure was performed by Dr. Ben Elder, a neurosurgeon and clinician-scientist.  

Press, who traveled from Chicago, noticed immediate improvements. His thinking was sharper, his steps steadier and he felt like himself again. 

A clear mind, steady steps and hope

Dr. Jones says Press' case highlights the promise of combining AI with clinical care to accelerate diagnosis, scale expert clinical knowledge and help guide treatment planning.  

"When you're looking at overlapping symptoms, it's easy to miss the underlying cause," Dr. Jones says. "StateViewer gave us the clarity we needed to make an informed diagnosis and take action." 

Press continues physical therapy and says he's improving every day. He hopes his story can help others who are navigating the same often misdiagnosed and debilitating condition. 

"I can enjoy time with my family again and I can go out with my friends. I can even do my own taxes. These are the moments I thought I had lost forever," Mr. Press says. "Mayo Clinic gave me my life back." 

Related article:

Mayo Clinic's AI tool identifies 9 dementia types, including Alzheimer's, with one scan

Mayo Clinic researchers have developed a new artificial intelligence (AI) tool that helps clinicians identify brain activity patterns linked to nine types of dementia, including Alzheimer's disease, using a single, widely available scan — a transformative advance in early, accurate diagnosis. Read more.

The post How a Mayo Clinic neurologist used AI to help restore a patient’s health appeared first on Mayo Clinic News Network.

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."

Related articles

• Mayo Clinic researchers lead transformative shift toward neurorestorative treatment strategies for most severe forms of epilepsy
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There is new hope in the fight against glioblastoma, the deadliest and most aggressive form of primary brain cancer.

Currently there is no cure, but results of a new study conducted at Mayo Clinic show patients experienced improved overall survival while maintaining quality of life after undergoing a novel approach to treatment.

Watch: Breakthrough in the fight against glioblastoma

Journalists: Broadcast-quality video (2:45) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

Richard Casper was one of the study participants. The Arizona man enrolled in the clinical trial at Mayo Clinic in Phoenix after his diagnosis of glioblastoma in 2019. Richard was given only months to live, but his family says thanks to his strength, perseverance, and innovative medical care, he survived nearly double the amount of time.

"To be almost two and a half, three years in after being told you only have a few months, it's quite remarkable," says Susan Casper, Richard's daughter.

Richard succumbed to the disease in 2023. During the treatment, his family says he had little to no side effects. In the months before his passing, Richard stated, "I feel great. If someone didn't tell me I have the glioblastoma, I wouldn't even know it."

The clinical trial was led by Dr. Sujay Vora, a radiation oncologist at Mayo Clinic in Arizona. The small, single-arm study incorporated the use of advanced imaging technology combined with cutting-edge radiation therapy in patients over the age of 65 with newly diagnosed World Health Organization (WHO) grade 4 malignant glioblastoma.

"The patients lived longer than we expected. This patient population is expected to live six to nine months. Our average survival was 13.1 months. There were some patients that were out closer to two years. The results exceeded our expectations. We are very pleased," says Dr. Vora.

The study is published in The Lancet Oncology.

Why is glioblastoma so deadly?

Glioblastoma is among the most challenging cancers to treat. The disease is aggressive and invades healthy brain tissue with hairlike tentacles. "That is why doing a complete surgery is very difficult, as compared to say breast cancer, where a lumpectomy can be performed to remove not only the tumor, but a healthy rim of tissue around it," explains Dr. Vora.

Surgery for glioblastoma presents a different set of obstacles. "When it comes to glioblastoma, it is challenging to do that level of surgery. You try to surgically remove whatever you can safely without leaving the patient worse off after surgery."

Another factor that makes glioblastoma so lethal is that it can be fast- growing and unresponsive to treatment.

"These cancer cells are quite challenging to overcome," says Dr. Vora. "There are some patients we see after their surgery, and by the time we are ready to start their treatment, they've already had a recurrence of the disease."

An estimated 14,500 people will be diagnosed with glioblastoma in the U.S this year. "In the best of circumstances the average survival rates are in the 14-15 month range. But for patients 65 and older, the group that was the focus of our study, patients do even worse. The prognosis for this population is between six and nine months," says Dr. Vora.

Symptoms of glioblastoma

• Headache
• Nausea and vomiting
• Confusion or decline in brain function
• Memory loss
• Personality changes
• Vision changes
• Speech difficulties
• Trouble with balance
• Muscle weakness
• Seizures

Attacking glioblastoma with a triad

For the clinical trial, Dr. Vora and his team mapped out a plan that would allow them to be more intentional and precise with treating the location of the glioblastoma.

The imaging incorporated the use of ¹⁸F-DOPA PET and contrast-enhanced MRI. "¹⁸F-DOPA PET is an amino acid tracer that can cross the blood brain barrier, and it can accumulate within the glioblastoma cells itself," says Dr. Vora.

Researchers combined these images to determine the location of the most metabolically active "hot spots" of the cancer in the brain.

Taking aim with proton beam therapy

Study investigators used one of the most advanced forms of radiation treatment, called proton beam therapy.

"With standard radiation, the beams go through the brain tissue, so there's an entrance dose and the exit dose. But with proton beam therapy, we dial up how deeply we want the radiation to go," explains Dr. Vora. "It drops off its energy in the tumor, and then there's basically no radiation after that. It allows us to be more preferential into the delivery of radiation and protect more of the healthy surrounding tissue."

During proton beam therapy, a patient lies on a table while the machine rotates around the patient's head targeting the tumor with an invisible beam. The patient is awake for the procedure. It is painless with many patients reporting fewer to no side effects.

Unlike traditional radiation for glioblastoma, which is typically delivered over the course of three to six weeks, treatment with proton beam therapy for the study was conducted in one to two weeks.

"I am hopeful that this is the first step of many where we can continue to move the needle and allow patients to live longer and live well," says Dr. Vora. "The goal is to improve the outcomes for our patients allowing them to spend more time with their families."

Nadya's story

2022 was a tough year for Nadya El-Afandi. She was on the verge of celebrating a long but successful battle with breast cancer.

"Out of the blue, I had a seizure. I went to the hospital, they did an MRI. After additional tests they told me the news: 'You have a glioblastoma,'" recalls Nadya. She asked her doctor if she should continue her breast cancer treatment. "He said, 'No'-meaning the glioblastoma would kill me before the breast cancer."

Nadya was not about to give up.

Nadya is a wife and mother of four children. She lives just outside of Rochester, Minnesota. "My children said to me, 'Mom, you're a unicorn. Of course you'll live.' My mother has had a number of medical conditions and we never expected her to live this long. And she's still alive and with us," says Nadya. "My children have also said, 'You've got grandma's blood in you. You will live.'"

Nadya is receiving care at Mayo Clinic in Rochester. That's where she learned about a new clinical trial called SAGA, or stereotactic ablative radiation treatment for glioblastoma. The phase 2 clinical trial is building upon Dr. Vora's research and studying a larger group of patients. The study is being led by Dr. William Breen, radiation oncologist at Mayo Clinic in Rochester.

It has been 15 months since Nadya began treatment for glioblastoma. So far, there is no sign the glioblastoma has returned. "Nadya has already exceeded the time that's expected time to have a tumor recurrence, and she continues to do well," says Dr. Breen. "Nadya is beyond some measures of what the average, overall survival time would be."

While Nadya's progress in encouraging, Dr. Breen says it is important to note that it is too early to draw any conclusions about safety or efficacy of this approach to treatment until the study is completed.

Meanwhile, Nadya is focused on living her life to the fullest. Fifteen months after undergoing treatment, Nadya embarked on an adventure to Hawaii, where she spent time taking helicopter tours, snorkeling and hiking.

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• Cancer is tough. Evelyn Owens is tougher
• https://cancerblog.mayoclinic.org/2021/12/21/glioblastoma-in-older-adults-improving-survival-and-quality-of-life/
• https://cancerblog.mayoclinic.org/2024/05/15/technology-clinical-trials-offer-hope-after-glioma-diagnosis/

The post (VIDEO) Breakthrough in the fight against glioblastoma appeared first on Mayo Clinic News Network.

Study shows advanced imaging, expert review improve diagnosis of encephaloceles

The sound of a basketball bouncing, the squeak of shoes on a fast break, the swish of the net — basketball has been a constant for Parker Shanks — from youth leagues to high school and college teams, to pickup games at his local gym.

One day on the court in 2022, a seizure dropped 6-foot-8-inch Parker to the floor.

Watch: Back to basketball after surgery

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"The next thing I know, I'm lying down in the middle of the basketball court, and there's a stretcher coming to pick me up and (they) drive me to the ER," recalls Parker, now 24. "That's when it really hits that, no, we're not just done and out of this. Something really is going on."

That something turned out to be a skull abnormality called an encephalocele (en-SEFF-ah-loh-seal), which caused Parker to have seizures.

Today, three years after his journey with epilepsy started, Parker's seizures are in control, and he's enjoying new responsibilities at his job and shooting hoops again.

If sharing his experience could help someone else find answers, Parker is all in, especially as he's learned that encephaloceles are becoming more recognized as a cause of seizures. "If talking about this can help someone else, absolutely, without question," Parker says.

Re-review of imaging finds encephaloceles that cause seizures

There are distinct types and severities of encephaloceles. Some are present at birth and can be large. One in every 10,500 babies is born with this type of rare, large encephalocele, according to the Centers for Disease Control and Prevention (CDC).

Other encephaloceles, like Parker's, occur after birth when the bony plates of the skull do not fuse together completely during growth, explains Dr. Jeffrey Britton, a Mayo Clinic neurologist. This allows part of the brain to push through small gaps in the skull, producing an encephalocele. These small encephaloceles are typically under a half-inch in size. As a result, they are difficult to detect on MRI scans.

"Their relevance as a seizure cause has been increasingly appreciated in recent years," Dr. Britton says. "The ability to visualize them has increased with technological advances, and our ability to recognize them as clinicians and radiologists is improving."

In a retrospective study analyzing encephalocele cases in patients with epilepsy who underwent surgery from 2008 to 2020, Mayo Clinic researchers reported that the encephaloceles were initially overlooked on MRI in 31 of 34, or 91%, of cases. Expert re-review of patients' imaging as part of Mayo Clinic's weekly multidisciplinary epilepsy surgery conference has significantly improved identification of encephaloceles, says Dr. Kelsey Smith, a Mayo Clinic neurologist and first author of the study published November 2023 in Epilepsy & Behavior.

Drs. Smith and Britton are part of the integrated team of Mayo Clinic neurologists, neuroradiologists, neuropsychologists and neurosurgeons that meets weekly to discuss patient cases and recommend individualized, innovative treatment plans. They review patients' medical histories and look for brain image irregularities that may indicate an encephalocele.

"When you have someone with drug-resistant epilepsy, if you can find a lesion that's the cause of their epilepsy, it really changes the possibilities for the patient's treatment," Dr. Smith says. "That is why looking at imaging closely for abnormalities like encephaloceles is very important."

Since the Mayo study ended in 2020, the team has found roughly 20 encephaloceles in additional patients with epilepsy, Parker among them. Parker has a scar — shaped like a question mark over his left temple — to prove it.

Seizures triggered by sudden change in brain physiology

In May 2021, Parker was a 21-year-old junior at the University of Wisconsin-Stout in Menomonie when he first had a seizure. "I'm hanging out with a buddy, and suddenly he tells me he called an ambulance. He said, 'Dude, you just had a seizure,'" Parker recalls.

With no prior history of seizures, medication might not be started after one seizure. But a month later, Parker had a second. He underwent testing at Mayo Clinic Health System in Eau Claire, Wisconsin, and was prescribed anti-seizure medication.

For over a year, Parker was seizure-free. But after his seizure that day on the basketball court, epilepsy began to rule Parker's life. Following standard treatment, Parker's medication dosage was increased, and another medication was tried. His seizures would be under control and then return.

"It got to a scarily regular basis, where I was having the grand mal seizures about monthly, and then I was having the focal 'zone out' seizures at least weekly," says Parker, despite taking medication diligently.

Dr. Britton describes epilepsy as a temporary electrical short circuit or an electrical storm in the brain. "The one thing that different types of seizures have in common is that they result from a sudden surge in the excitability of the brain," he says.

Seizures create 'shadow in the back of my head'

Epilepsy is common. Worldwide, it's estimated more than 50 million people of all ages have epilepsy, according to the World Health Organization. In the U.S., more than 3 million people have epilepsy, according to the CDC. For a third of them, like Parker, medications don't control their seizures.

Dangerous complications can result from seizures — falling, drowning, motor vehicle accidents, dealing with side effects of medications and the mental stress of illness, and even sudden, unexpected death.

Parker fell and hit his head several times during seizures. A woman discovered him on the sidewalk near his office. She called 911 and his parents, thanks to an identification bracelet Parker wears.

Once, after being seizure-free for a few months, Parker crashed his car during a seizure. He shudders to think what would have happened if anyone had been seriously hurt in the accident.

Parker stopped driving. He curtailed his social activities. At work in Eau Claire, he was glad for a desk job — on carpeting — in case he fell.

"I'm not going outside and doing anything else because I just have that shadow in the back of my head," says Parker, offering thanks to his family and friends who gave him rides and support during some frustrating and frightening months.

Finding the culprit behind Parker's seizures

Parker was hospitalized in Eau Claire to monitor his seizures using an electroencephalogram (EEG), a test that measures electrical activity in the brain using small, metal electrode discs attached to the scalp. Parker's seizures were found to arise from his temporal lobe on the left side of his brain.

At Mayo Clinic in Rochester, Minnesota, that EEG information and Parker's medical history suggested the temporal lobe was the source of his seizures. Identifying the underlying encephalocele involved the use of advanced imaging:

• Fluorodeoxyglucose positron emission tomography (FDG-PET) scan, which indicates how glucose is fueling parts of the brain. Parker's scan showed a specific area of abnormal glucose uptake in the front tip of the left temporal lobe.
• 3D-rendering CT scan, which can enhance visualization of the skull base. Parker's scan revealed a defect in the floor of the left middle of the skull base and the corresponding encephalocele.
• 7T MRI scan, which can reveal subtle brain differences, and is used when the team is highly suspicious that a lesion is present but conventional imaging has not helped.

"The location of Parker's encephalocele had complex, curved anatomy with brain, bone and air close together," says Dr. Karl Krecke, a Mayo Clinic neuroradiologist, describing Parker's roughly half-inch encephalocele.

"When each of these imaging data pieces line up, we feel confident that we have found the culprit, and we can consider options to treat the patient's problem."

Seizure surgery date is 'my new birthday'

Dr. Britton delivered the news to Parker and his parents that an encephalocele likely was causing his seizures, and surgical repair was an option. "It's really a privilege to be in a position where you can be a part of a process that brings clear benefits to an individual patient," Dr. Britton says. "It's what keeps you going."

Dr. Jamie Van Gompel, a Mayo Clinic neurosurgeon, soon met with Parker and his family to discuss the risks and benefits of surgery. Research by the Mayo team has shown that a more limited surgery is best for a temporal encephalocele on the left side of the brain, which controls speech and memory.

"We went to surgery and were able to remove a small part of the brain tissue that was hurt by the encephalocele," Dr. Van Gompel says. "Parker was amazing, out of the hospital quickly and back to doing what makes Parker, Parker."

After dealing with fear and anxiety caused by his seizures, Parker had a special message for his operating room team before he went under anesthesia for his October 2023 surgery. As he lay on the operating table, he asked to make an announcement before his procedure started.

"Me and my family have gone through the greatest amount of trauma and stress for something that was out of nowhere," Parker recalls telling the team. "And knowing that you guys are the best possibility for me to get my life back, I'm seeing this as my new birthday. So, thank you."

After a recent checkup with Dr. Britton, Parker reiterates the sentiment. "I can't thank them enough. I don't know how else to put it. I've got my life back."

Related content:

• Sharing Mayo Clinic: Specialized imaging and targeted brain surgery for epilepsy
• Mayo Clinic Minute: Using lasers on the brain to treat seizures
• Sharing Mayo Clinic: From 100-plus seizures a month to seizure-free

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What started as a persistent headache for Spencer Lodin soon devolved into slowed speech, seizures, and hallucinations, symptoms which stumped ER doctors into thinking he had meningitis or was suffering from psychosis. Finally, specialized testing at Mayo Clinic identified Spencer's condition as GFAP-IgG associated autoimmune encephalitis, which allowed for targeted treatment and a full recovery.  

It was April 2020, the COVID-19 pandemic in full swing, when Spencer Lodin, 37, a mail carrier from the Twin Cities, experienced a persistent headache, which soon devolved into numbness on his left side, slowed speech, seizures, and hallucinations. After a series of ER visits and subsequent hospitalizations, Spencer's doctors began to suspect encephalitis — inflammation of the brain for which there can be various causes. Specialized testing at Mayo Clinic revealed he had GFAP-IgG associated autoimmune encephalitis. Once this rarer antibody was identified, Spencer could begin more targeted treatment, and the long road to healing.

When Spencer first complained about his headache to his primary care physician, the doctor told him to switch from ibuprofen to Tylenol. It didn't help. Then he started losing sensation on one side of his body.

"My brother-in-law, a doctor, was concerned I wasn't getting better and suggested I go to the ER," says Spencer, who is the youngest of five. "I went to the ER at the University of Minnesota Health Center. They gave me a CAT scan that came back with nothing abnormal. So, they discharged me and said I was fine."                                  

But Spencer wasn't fine. Two days later he was back in the ER. The numbness on his left side had gotten worse, and his headache was still raging. An MRI found inflammation in his brain. Spencer then underwent a spinal tap. His initial diagnosis was meningitis, and he was checked into the hospital. "They put a PICC line in me and then released me after three days with a schedule of drugs," Spencer recalls. "My sister said that when I got home that day, my speech had really slowed down and I wasn't sounding like myself."

Spencer's initial misdiagnosis of meningitis isn't uncommon, according to Andrew McKeon, M.B., B.Ch., M.D., a neurologist and director of the Neuroimmunology Laboratory at Mayo Clinic. "Once the inflammation gets into the brain you can get signs of conditions like viral or bacterial meningitis, because the initial presentation is not very specific," says Dr. McKeon, who treated Spencer once he came to Mayo.  

Walking in circles

A couple of days later, Spencer was at home on a Friday night hanging out with a friend when, at one point, his friend noticed him walking around in circles. "And they were like, 'Are you OK?'" Spencer says. "I apparently told them I was trying to walk off the pain of the headache." An ambulance was called, and Spencer was taken back to the ER. But he ended up at a psychiatric hospital. He was examined more for psychosis rather than for his other symptoms.

"WHEN SPENCER WAS SEEN IN THAT STATE OF MENTAL AGITATION, ONE MIGHT THINK OF AN EARLY PSYCHOSIS," DR. MCKEON SAYS. "BUT WHEN YOU ADD THE HEADACHE, AND NUMBNESS DOWN ONE SIDE, AND SLOWED SPEECH, IT BEGINS TO INDICATE ENCEPHALITIS."

Spencer was discharged that same night. He tried to call for a ride but was too disoriented to complete a simple phone call. He somehow made it home, barefoot, after an hour's walk. Spencer continues, "When I woke up in the morning the left side of my body had gone numb again," he says. "So, I went downstairs to the person who lives below me and asked them to call an ambulance. The ambulance brought me to the hospital. And that is the last thing I remember for a month."

After a host of additional tests, doctors at the University of Minnesota suspected Spencer had encephalitis. But they needed to confirm the particular antibody causing the inflammation of his brain. A sample of Spencer's cerebral spinal fluid was sent to Mayo Clinic Laboratories for testing. The results would take two weeks because such testing is extensive.

"OUR APPROACH IS, IF THE PATIENT HAS ENCEPHALITIS, WE SHOULD INCLUDE IN OUR TEST EVALUATION EVERY ANTIBODY THAT'S PERTINENT TO THAT DISEASE STATE," DR. MCKEON SAYS. "THE GFAP ANTIBODY WAS DISCOVERED AT MAYO, AND AS SOON AS WE VALIDATED IT CLINICALLY, WE INCLUDED IT IN OUR EVALUATION FOR AUTOIMMUNE ENCEPHALITIS. AND THAT'S WHAT CAME BACK AS POSITIVE IN SPENCER'S CASE."

Mayo Clinic is the only hospital in the country that offers testing for GFAP-IgG. Shannon Hinson, Ph.D., principal developer in Mayo's Neuroimmunology Laboratory, developed and validated the test.

"GFAP-IgG was first identified by its unique staining pattern of mouse brain tissue," Dr. Hinson says. "Once we realized it was a unique staining pattern, and a group of patients all had similar clinical symptoms, we worked on discovering what the pattern was. After we identified it as GFAP, we developed a test for it." The test takes time because, as Dr. Hinson adds, "It's homegrown within the lab, meaning we don't buy the test. We grow the cells and plate the cells here." There are different types of encephalitis, which can be caused by a viral infection, an insect bite, or an autoimmune reaction as in Spencer's case.

"THAT'S WHY THIS TEST IS SO VALUABLE, BECAUSE IT HELPS NARROW DOWN THE TYPE OF ENCEPHALITIS," DR. HINSON SAYS. "AND IT HELPS GUIDE THE DOCTORS ON HOW TO TREAT THE PATIENT. PLUS IT GIVES THE PATIENT AN ANSWER. IT PROVIDES COMFORT TO THE PATIENT TO KNOW, ‘THIS IS WHAT I HAVE.'"

Losing hold of reality

While waiting for his test results in the hospital, Spencer's condition deteriorated into an agitated, incoherent state. "I think what was happening is that my brain wasn't able to see reality, and I was having visions in my head. I was physically reacting to what was happening inside my head," he says.

Spencer had to be strapped to his bed, and decisions about his care were left to his oldest sister, Kari. His doctors by now strongly suspected autoimmune encephalitis and discussed a treatment option called plasma exchange. This would mean putting an IV line into Spencer's jugular vein. "Plasma exchange is typically done to remove autoantibodies," Dr. Hinson says. "It's an immune treatment, in which they take out the immunoglobulin and then put your plasma back in again."

But doctors worried that, even though strapped down, Spencer might still find a way to rip the IV from his jugular, which could kill him. So they held off and instead gave him calming meds. Days later, when Spencer's test came back positive for GFAP-IgG, he was calm enough to begin the plasma exchange.

"IT WAS A 10-DAY TREATMENT — FIVE TREATMENTS EVERY OTHER DAY," SPENCER SAYS. "I'D SAY AFTER THE SECOND TREATMENT IS WHEN THE LIGHTS CAME BACK ON. I WAS BECOMING MORE MYSELF AGAIN AND WAS ABLE TO HAVE COMPLETE CONVERSATIONS."

Spencer spent six weeks in the hospital and lost 30 pounds. Before being released, he needed a few weeks of rehab. The encephalitis left him in a similar state as a stroke victim. He had to learn how to use his left side again, how to walk normally, tie his shoes, and zip up a sweater. Once he was discharged and back home, Mayo Clinic took over his aftercare.

"The University of Minnesota recommended I take steroids for a while, orally," Spencer says. "But Dr. McKeon wanted to change that up. To really nip the encephalitis in the bud, he thought it'd be better if I did steroids intravenously, once a week for a month. He ordered an MRI and a spinal tap to check on the inflammation. He wanted to do some EEGs to check on how my seizures were doing. I'd say by this point, I really wasn't having any seizures. So he was just doing a lot of testing right off the bat."

Dr. McKeon adds: "The initial care is pretty intense, but then it doesn't require a huge amount of follow-up — once every six months."

Spencer did have one slight relapse, which manifested as another persistent headache in January of 2022 and sent him back to an ER in the Twin Cities. An MRI detected inflammation in his brain again, so Spencer was admitted to the hospital. But this time, because his records indicated his positivity for GFAP-IgG, he was put on steroids right away, which nixed further complications. He was released after a few days. "When I was able to talk to Dr. McKeon about it, that's when he put me on a longer treatment plan, an IV dose of steroids then oral steroids, which I tapered off of, and he has me on an immunosuppressant," Spencer says.

Spencer's immunosuppressant is currently mycophenolate. "We have to be careful about figuring out a maintenance steroid plan and gradually de-escalating the dose over time," Dr. McKeon says. "Timing for treatment is important, and with a maintenance treatment, people should generally do well."

Today, Spencer has made a complete recovery and is back on his mail route. Being unable to work for a few months was not fun for him. "Driving is one of my favorite things to do," he says. "I just really take pride in it, and I love being behind the wheel. So I was very anxious to get back in the car. Once I got the clear to do that, and after not being able to do much, I was ready to get back into full-time work and be like myself again."

This article first appeared on the Mayo Clinic Laboratories blog.

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Bad back? It's why many people seek medical care. Nonoperative approaches such as physical therapy are typical, first-line treatments for back pain. But minimally invasive robotic spine surgery is improving recovery and long-term outcomes for some patients who need surgery.

James "Sonny" Rivera describes his lower back pain vividly: "A hot burning rod going down my leg" and "a lightning bolt hit me in my back."

While Sonny remembers having back pain since he was a teen, a 2021 ATV accident made his pain intolerable when he stood, walked a short distance or rolled over in bed. "I got very little sleep for probably two years," says Sonny, 59, of Fort Dodge, Iowa.

Professionally and personally, Sonny's life was on hold. He couldn't work. Favorite hobbies like running, fishing, golfing and coaching youth wrestling were out.

"Just spending time with my grandkids outside playing, I wasn't able to do that anymore," Sonny says. "I think that brought me down."

Watch: Gone fishing

Journalists: Broadcast-quality video (1:25) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

Spine surgery recommended

Through his employer, Sonny participated in a benefit that referred him to the Mayo Clinic Complex Care Program. The program offers patients with an abnormal MRI or a local healthcare professional's referral to receive an advanced spine review and care plan by Mayo spine experts.

Dr. Mohamad Bydon, a Mayo Clinic neurosurgeon and editor of "Back and Neck Health: Mayo Clinic Guide to Treating and Preventing Back and Neck Pain," first saw Sonny via a video appointment.

"It was really easy to talk to him," Sonny says. "He answered all my questions. I felt really comfortable."

After Sonny's review, it was recommended he travel to Mayo Clinic in Rochester, Minnesota, for further evaluation and potential surgery.

Dr. Bydon recommended minimally invasive, robotic spinal fusion surgery for Sonny's compressed nerves and spinal instability. Research has shown that the use of robotics can offer greater accuracy when placing surgical instruments and lowers rates of reoperations.

"What that means to the patient is improved recovery, lower blood loss, lower risk of transfusion — additionally, better long-term outcomes," says Dr. Bydon, the Charles B. and Ann L. Johnson Professor of Neurosurgery and an expert in complex spinal surgery and spinal oncology.

Discharged next day

Standard fusion surgery requires a four-day hospital stay. With the robotic, minimally invasive approach, Sonny was discharged a day after surgery.

"I was really surprised about the recovery," Sonny says. "I had no pain, and I was able to walk normally.

"Now I walk around, I don't have any problems. My wife notices that I'm in a better mood all the time. It was affecting me not only physically, but mentally. And now it's great. I feel great."

A photo of Sonny, fish in hand, showed Dr. Bydon how well his patient is progressing.

"One of the great privileges of practicing at Mayo Clinic is taking care of patients like that and being able to see them advance and go on with their lives," says Dr. Bydon.

While the surgery may be called minimally invasive, Sonny thanks Dr. Bydon and team for making a big impact on him. "It's made a huge difference in my life," Sonny says.

Read more on Sonny's experience with Mayo Clinic Complex Care Program.

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Tyler Theobald was playing basketball when the dizziness started.

Some might argue that lightheadedness during exercise comes from overexertion, but Tyler knew something was wrong when the room kept spinning, even while he stood still.

His wife later took him to the emergency department near their home in Searcy, Arkansas, where he was given medication for vertigo and sent home.

When his symptoms weren't improving, he saw a primary care doctor and then an ear, nose and throat (ENT) doctor a few days later.

"The doctor thought I had a virus affecting my inner ear, but ordered an MRI just to be safe," Tyler says.

MRI leads to diagnosis

The MRI results indicated that Tyler had an acoustic neuroma, also known as a vestibular schwannoma — a noncancerous tumor that develops on the balance nerve leading from the inner ear to the brain.

"I was shocked, nervous and not knowing what to expect," Tyler says. "Even though it was benign, having a tumor near your brain is intimidating."

Tyler's health insurance recommended that he undergo an evaluation with the acoustic neuroma team at Mayo Clinic in Florida before deciding where to get treatment.

A week later, he flew to Jacksonville, Florida, to meet with acoustic neuroma experts Dr. Joseph Breen, Dr. Alfredo Quinones-Hinojosa and Dr. João Paulo Almeida, on the ENT and Neurosurgery teams.

The visit included labs and a second MRI at Mayo, which offers advanced imaging to identify the location of acoustic neuromas with extreme precision.

"It surprised me how fast I got my results back, it felt like I had them in real time," Tyler says. "Before I even got to the elevator, I had the Mayo app popping up on my phone with the results from my labs."

Heading to surgery

For his follow-up appointment the next month, Tyler opted for a video visit, allowing him to speak with the care team from the comfort and convenience of his home.

Due to the size of his acoustic neuroma and its growth pattern, Tyler and his care team decided to move forward with scheduling a retrosigmoid craniotomy, a surgical procedure that involves making an opening in the skull behind the ear to remove the tumor.

Ten days after surgery, Tyler flew back to Arkansas.

Shortly after returning home, however, Tyler felt pressure in his head due to fluid buildup — a common event after surgery — and went to his local emergency department. Clearing this hurdle was made easier due to the responsiveness of his acoustic neuroma team.

"On my way to the ER, I texted one of my Mayo doctors," Tyler says. "It was his day off, but he immediately called and spoke to the emergency physician about how to help me."

Back in the game

The overall experience from MRI to surgery was efficient and handled with great care, he says.

"Considering I was in a bad health situation, it couldn't have been a better experience," Tyler says.

After recovering at home, he returned to his job as a network administrator and found his way back to playing sports.

"When all of this started, I was so worried that I would never be able to play again," Tyler says. "It feels great to be back."

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In July of 2018, James Kypuros woke up to find his toes clenched and claw-like, as if fisted. “It was a little bit weird walking this way, because you didn't have that balance of your toes extended,” recalls the 76-year-old Cedar Lake, Indiana resident. That summer marked the beginning of a host of debilitating symptoms that would defy significant treatment response until James came to Mayo Clinic, where specialized testing diagnosed him with glycine receptor antibody syndrome. But that was still a ways ahead.

Shortly after his toes fisted, James started having falls. They happened at home and while at his job as a loan officer. For a time, he could get back up himself. Then one Saturday in August, while he and his wife were at their condo at Pine Lake, “I fell down in the garage and I couldn't get up,” says James. “My wife was with me, and she had to get some neighbors to help get me up. We went to the emergency room at University of Chicago Medical Center.” Unable to stand, James needed a wheelchair to be admitted. “Once they got me into a bed, I couldn’t sit up or even lift my feet off the bed. It was scary.”

Jim was initially diagnosed with stiff-person syndrome (SPS), a rare autoimmune disorder of the nervous system, often resulting in progressive, severe muscle stiffness and spasms of the lower extremities and back. Stiff-person syndrome affects about one in every million people. The disease has received more attention since 2022, when singer Celine Dion publicly revealed she suffers from SPS — which can be difficult to diagnose because it mimics other autoimmune disorders.

There was other bad news for James while in the hospital. He was diagnosed with the onset of chronic lymphocytic leukemia (CLL). After 17 days in Chicago Medical Center, James was transferred to Shirley Ryan AbilityLab in downtown Chicago. “When I got there, I could barely sit up by myself,” he recounts. “They took me from that to where I could walk with the aid of a walker.”

Amid his rehab, James also spent 10 days at Northwestern Memorial Hospital where his conditions of SPS and encephalomyopathy were reconfirmed. But doctors had yet to pinpoint a root cause behind his symptoms. Meanwhile, alarmed at how much he was suffering, James’s wife made an appointment for him at Mayo Clinic in Rochester, Minnesota. That gesture would change his life.

“We went to Mayo Clinic in November of ’18,” James says. “And that's when I met Dr. Flanagan.”  

From rock bottom to dramatic healing

Eoin Flanagan, M.B., B.Ch., is a professor of neurology and chair of Mayo’s Division of Multiple Sclerosis and Autoimmune Neurology.

“WHEN JAMES CAME TO US, HE WAS STRUGGLING TO WALK,” SAYS DR. FLANAGAN. “HE ALSO REPORTED HAVING DOUBLE VISION AND DIFFICULTY SWALLOWING. SO WHEN WE SAW THAT ALONG WITH THE ENCEPHALOMYOPATHY, WE DECIDED TO RUN THE GLYCINE TEST, BECAUSE WE KNOW THAT GLYCINE RECEPTOR ANTIBODY SYNDROME CAN SOMETIMES BE ASSOCIATED WITH THOSE SYMPTOMS.”

The glycine receptor antibody was first discovered at Oxford University Hospitals in 2008. Mayo Clinic then developed a specialized test (Mayo ID: GLYCS) and currently is the only lab in the country to offer it. The assay demands a high level of expertise.

Andrew McKeon, M.B., B.Ch., M.D., a neurologist, professor of laboratory medicine and pathology, and director of the Neuroimmunology Laboratory at Mayo Clinic, explains what happens in glycine receptor antibody syndrome. “Glycine receptors are part of the inhibitory nervous system. You need glycine receptors to tone down the nervous system,” he says. “So you have this kind of yin and yang of excitation and inhibition in the nervous system that keeps things sort of on an even keel. And if your glycine receptors aren't functioning properly, you have way too much excitation, and then all the muscles become really stiff, and they start to spasm and can lock up. So what happens is that these antibodies, they bind to the glycine receptors, and then the receptors stop functioning.”

To bring home just how dangerous this syndrome can be, Dr. McKeon offers a comparison with strychnine poisoning. “With strychnine poisoning, the poison irreversibly binds to glycine receptors, and it produces a similar syndrome to PERM [a rarer form of stiff-person syndrome]. Except of course, with strychnine poisoning it’s way worse and immediately fatal. But the underlying commonality between the two is that it involves disruption of the glycine receptors.”

In December, James’s test results came back.

“THE GLYCINE RECEPTOR ANTIBODY WAS POSITIVE IN BOTH HIS BLOOD AND SPINAL FLUID, AND A KEY TO HIS DIAGNOSIS AND TREATMENT PLAN,” SAYS DR. FLANAGAN.

If not treated appropriately, stiff-person syndrome can have an associated mortality if the whole body “locks up,” because it can potentially disrupt a person’s breathing. Fortunately, James was in the right place for the right treatment. And because James also presented with CLL, Dr. Flanagan worked closely with Saad Kenderian, M.B., Ch.B., an oncologist and consultant in Mayo Clinic’s Division of Hematology.

For five days, James was put on a regiment of intravenous steroids, which then continued once a week for 11 weeks. The doctors then contacted James’s care team at Northwestern and recommended that he receive infusions of Rituxan, also known as rituximab, once he left Mayo. “He had a dramatic improvement with that treatment,” says Dr. Flanagan.

Jim wholeheartedly concurs, saying, “As soon as I did the five days of steroids, I could walk without any assistance. Dr. Flanagan is an incredible guy.”

For about two years, James’s life was mostly smooth sailing. Then, earlier this year, he had a month-long bout of severe nausea. “Some days I couldn't get out of bed,” he says. “The minute I tried to move, I felt like I was gonna lose everything. It was horrible. And in addition to that, my balance was off. I never fell, but I wasn't stable. So we went back to Mayo Clinic and saw Dr. Flanagan again.”

Jim’s relapse was most likely due to his Rituxan treatment being delayed or under-dosed once he was back under care by his local doctors. When he returned to Mayo last March, James again underwent an intravenous steroid (called SOLU-MEDROL) regime for five days, then once a week at home for 12 weeks. After that, the injections were gradually spaced out until he was weaned off them. James also received the Rituxan infusions. Rituxan targets the B cells (and their lineage) in the body, which produce antibodies. The drug is sometimes used to treat leukemia and lymphoma, blood cell cancers that can involve the B cells.

“Rituximab reduces the production of all new antibodies,” says Dr. Flanagan. “But the hope for the patient is that it also reduces those bad antibodies that are making the glycine receptor antibodies.”

The Rituxan, in combination with steroids, worked for James. And that includes his CLL. His bloodwork, checked every six months by his oncologist, has remained stable enough that the CLL hasn’t required additional treatment of any kind.

“THE RITUXAN HELPED WITH ALL OF MY ISSUES,” SAYS JAMES, NOW RETIRED. “AND THE TREATMENT BROUGHT ME IN BALANCE AND REALLY KIND OF CURED EVERYTHING. MY STIFFNESS IMPROVED, I DON’T NEED A WALKER ANYMORE, EVERYTHING IMPROVED. AND IF THINGS GO SOUTH AGAIN, I’LL BE BACK AT MAYO TO SEE DR. FLANAGAN.”

As for James’s treatment and future outlook, Dr. Flanagan is optimistic. “I think we can manage his treatment with the steroids and, mostly, with the rituximab going forward,” he says. “And now that he's on a regular dose of that, he seems to be doing better. So the hope would be to keep him being able to walk and keep him in his best state.”

This article first appeared on the Mayo Clinic Laboratories blog.

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