With the help of a dedicated care team and precise treatment, Judge Moran is back on the bench, and recent scans show something remarkable. 

AN UNEXPECTED CHALLENGE 

Judge Moran doesn't shy away from a challenge, whether in her legal career, solving issues in her community or even her health.  

"We were treating the metastatic breast cancer in my abdomen about two years ago now. I began noticing that my balance wasn't very good, and then I started limping," she says. 

I'd gotten to the point where I almost didn't want to try anything anymore, and Dr. Advani really helped me realize this wasn't the time to give up. It was time to keep going. And boy, I'm glad I did. I'm really, really glad I did.

— Judge Audrey Moran

Scans in early 2024 showed the cancer had spread to the lining of her brain and spine. Treatment posed another challenge after Judge Moran developed an infection where a port would deliver chemotherapy into the lining of her brain.  

"I said, 'We're going to have to figure something else out.' My wonderful oncologist, Dr. Pooja Advani, had an idea because a new chemo had come out that she thought might be just the right thing for me," she says. 

A NEW TREATMENT 

Instead of delivering treatment directly into the lining of her brain, Judge Moran's care team was able to deliver a newly approved therapy through her arm. The results were better than expected. 

"The last scan I got of my brain, the results were that the brain cancer has resolved. I couldn't even believe it when I read it on my report," Judge Moran says. 

Follow-up appointments have confirmed that the treatment is still working for the metastasis in her abdomen. Beyond her diagnosis, Judge Moran remains active with her family and career. 

She says, "You know, my life is back. I’m at work. And I'm getting to do what I love."

A REMARKABLE JOURNEY 

In late September, Dr. Advani and Judge Moran had a chance to meet again. 

"It almost brought me to tears to have seen how she was in 2024 when she was going through this journey and the remarkable clinical progress that she has made," Dr. Advani says. 

Judge Moran adds, "I'd gotten to the point where I almost didn't want to try anything anymore, and Dr. Advani really helped me realize this wasn't the time to give up. It was time to keep going. And boy, I'm glad I did. I'm really, really glad I did." 

A version of this story was published on Mayo Clinic News Network.

The post Back on the Bench appeared first on Mayo Clinic Magazine.

"I'll never forget how difficult the recovery was after that first surgery to remove the tumor," Angela recalls. "I ended up with an infection while still recovering at home with my parents. I tried to go back to college afterward, but being away from my support system made everything so much harder." 

Looking back on those early days before receiving care at Mayo Clinic, she shares, "Doctors didn't know what we were dealing with. I wasn't angry — I just kept going because that's all I could do." 

The Turning Point  

Life regained some normalcy after her initial recovery. She met Chris — her future husband — and started planning a future. But less than a year into their marriage, the cancer returned, this time requiring surgery and 30 days of radiation. Two years later, the disease spread to her pelvic lymph nodes. 

This marked a turning point. Angela sought a second opinion at Mayo Clinic, where her care team removed 13 lymph nodes, sparing her from further therapies. "Mayo became my anchor," she says. "For the first time, I felt like I wasn't fighting this alone." 

Mayo became my anchor. For the first time, I felt like I wasn't fighting this alone.

— Angela Bristow

Over the next two decades, Angela’s life became a cycle of surgeries, treatments and recoveries, as tumors returned every two years. Yet she found strength in her "dream team" at Mayo Clinic, including her palliative care team, who are dedicated to easing suffering by managing symptoms associated with serious illness. Beyond medical care, they provide compassionate support to patients and their loved ones during life's most trying moments. 

"I have the distinct privilege of supporting Angela as she navigates the challenges of living with cancer," says Liz Sokolowski, M.D., Angela’s palliative care physician. "From our first meeting, I was deeply moved by her resilience and strength, and how she continues to maintain hope and her sense of humor. Patients like Angela are true heroes. They teach us daily about courage, and they remind us why we do this work." 

Fighting Forward

Advances in treatment provided new hope. What began with surgeries and radiation evolved into cryoablation, thermal ablation, and more recently, oral chemotherapy. Even when the cancer metastasized to her lungs a decade ago, Angela faced each recurrence with determination, balancing the fear of the unknown with acceptance.  

"Cancer doesn't own me," she affirms. "It's part of my story, but not the whole story. I'm still learning, still growing and still fighting. There's a reason I'm here." 

Angela's journey is one of resilience, self-advocacy and profound partnership — with her care team and her family. Chris has been her unwavering support, whether staying overnight in hospital chairs or managing wound care. Their daughter, now a teenager, has grown up witnessing her mother's courage. "She was just 3 months old when she stayed in my hospital room. She's my light, and Chris is my rock."

Now, Angela speaks with heartfelt wisdom. 

"I wish I could tell my 19-year-old self it will be OK. Cancer doesn't define life — it's just a part of it," Angela says. For those walking a similar path, she offers this advice: "Advocate for yourself, build a trusted care team and don’t let cancer take more than it has to. You are stronger than you think." 

Holding Hope 

Since first sharing her story, Angela’s journey has continued to evolve. She is now living with metastatic ependymoma and recently completed proton beam therapy at Mayo Clinic. While no additional treatment is scheduled at this time, her care continues through close monitoring and regular scans.  

Through it all, Angela remains grounded in the same quiet resilience she’s practiced for decades — focusing on daily life, protecting her sense of joy and holding hope in the moments that matter most. 

A version of this story was published on Mayo Clinic News Network. 

The post Living Beyond Diagnosis appeared first on Mayo Clinic Magazine.

Doctors told him to take more vitamins. They tried acupuncture and electroshock therapy. A specialist biopsied a piece of his leg muscle but could not determine the cause of his deteriorating health. By the time he made his way to Mayo Clinic, he could no longer muster the strength to lift his arms or even hold up his head. "He was like a puppet," says Sylvie.

Ashley Santilli, M.D., the clinical fellow at Mayo Clinic assigned to his case, told the family not to lose hope. "She was really persistent," recalls Sylvie. "She said, 'We will get to the bottom of this — we will figure out what's wrong.'"

Integrated Know-How

At the time, Dr. Santilli was training under Teerin Liewluck, M.D., a neurologist who had trained under the late Andrew Engel, M.D., a pioneer of muscle disease research. Over nearly six decades at Mayo Clinic, Dr. Engel discovered several new neuromuscular disorders and identified the underlying mechanisms of many others.

"One thing he always told me was that he was still learning, even after all those years," says Dr. Liewluck. "He taught me that I need to keep an open mind, because there are always new things to learn and discover."

Because José’s mysterious illness arose rapidly and later in life, Dr. Liewluck thought the cause was probably not genetic. Congenital muscle diseases typically emerge slowly in early childhood. But when he looked at José’s muscle biopsy under the microscope, he was surprised to see abnormally large mitochondria, the energy-producing structures often called the "powerhouses of the cell." Giant mitochondria, also known as megaconia, are associated with a type of congenital muscular dystrophy caused by mutations in a gene called CHKB.

To make sure they were not missing a new presentation of this incurable condition, the team requested genetic testing, which confirmed that José did not harbor any suspicious CHKB variants. So they returned to the biopsy in search of more clues.

"The unique thing about neuromuscular medicine at Mayo is we get specific training in diagnostic tests, like biopsy interpretation and EMG," says Dr. Santilli, referring to electromyography, a test that measures muscle response to nerve stimulation. "You get to be the whole provider for a particular patient, instead of relying on other specialists to help us interpret those tests."

A New Disease

José's case gave Dr. Liewluck a sense of déjà vu. He recalled another patient, years earlier, who was part of a study on a severe form of muscle inflammation. That patient's biopsy also was marked by giant mitochondria. The patient's story was only pieced together later: an adult who developed muscle weakness, but whose illness was complicated by an underlying cancer. Treated by another physician, the patient initially improved with immunotherapy, but ultimately the cancer claimed her life.

To better understand José's muscle disease, the researchers performed a series of special stains on his biopsy, each revealing various aspects of muscle structure and pathology. In addition to the unusually large mitochondria within his muscle fibers, they found evidence of inflammation, indicating an autoimmune process was at play. The team believed that José's immune system was mistakenly attacking his muscles. If they were right, then immunotherapy might help him regain his strength.

"We couldn't guarantee or predict the outcome," says Dr. Liewluck.

They told José that he would be the first patient they treated with this new disease, which they called immune-mediated megaconial myopathy (IMMM). They treated him aggressively with regular rounds of intravenous immunoglobulin and steroids. And he got better.

Before treatment, José's levels of creatine kinase, a blood biomarker commonly used to monitor muscle damage, were sky high. With treatment, those levels dropped back within the normal range, suggesting that his overactive immune system had been put in check. More importantly, José felt stronger and required less assistance, showering on his own, tinkering in his garage — even driving himself to rehab.

Unfortunately, José's illness may have gone too long without treatment to allow a full recovery. Chronic inflammation and repeated muscle damage can gradually lead to the replacement of healthy muscle tissue with fat and scar tissue.

"That gives you evidence that you need to catch these cases earlier," says Dr. Liewluck.

Earlier Answers

The team turned to the Mayo Clinic Muscle Pathology database to see if they could find other patients with this new disease within recent years. They identified two more patients who shared the same distinctive features — profound muscle weakness in adulthood, strikingly enlarged mitochondria, inflammatory reaction in muscle tissue, and elevated creatine kinase levels. Working in collaboration with an outside institute, they uncovered a third case. Along with José and the case from the prior research study, the count had risen to five. José and the two newer patients, all of whom received immunotherapy, responded well to treatment.

Now, Dr. Liewluck is delving deep into Mayo Clinic's extensive muscle tissue repository, combing through biopsies that span not just recent years, but decades, in search of other overlooked cases — patients who may have had IMMM long before it was recognized as a distinct entity.

"I actually think there might be many more than we know," says Dr. Santilli.

Interestingly, all the patients they have identified thus far have also had some form of pancreatic disease, such as pancreatic cancer or pancreatitis. Though the link is not entirely clear, the pancreas expresses high levels of choline kinase beta, the same protein that is disrupted in CHKB-related muscular dystrophy. Dr. Liewluck is collaborating with neuroimmunologist Div Dubey, M.B.B.S., to try to identify the antibody that triggers the immune attack, ultimately causing disease.

Once they find that autoantibody, they can test for it in the blood to diagnose more patients with IMMM. For now, they will have to rely on their expert review of muscle biopsies combined with clinical observations.

Though José is not back to his old self, he is happy that his case has already helped others. And he is making the most of the strength he has.

By last spring, José had recovered enough to travel to his home country of El Salvador. His family helped him take a walk on the beach and watched over him as he swam in the ocean. Until recently, it was more than he thought was possible.

A version of this story was published on Mayo Clinic News Network.

The post Construction Worker Rapidly Loses Ability to Walk, Researchers Discover the Cause appeared first on Mayo Clinic Magazine.

Every August 31, Whitney Thompson, M.D., M.Phil., travels to Chatfield, Minnesota, to release purple balloons.

On that day, Dr. Thompson is among the family and friends who come to Mill Creek Park to join Casey and Justine Bates — the parents commemorating the 18-month life of their late son, Oliver, who was diagnosed with WOREE syndrome, an ultrarare and incurable form of epilepsy that claimed his life in March 2022.

“I had the privilege of being with Oliver’s family at his diagnosis, and I was there when he took his last breath,” says Dr. Thompson, a dual fellow in neonatal medicine and clinical genomics at Mayo Clinic. “The bond we formed is hard to put into words. Being there is my way of continuing to care for his family and honor his life.”

WOREE syndrome (WWOX-related epileptic encephalopathy) is caused by a lack of an essential protein for brain development and function called WWOX. This is a result of mutations in the WWOX gene, which is located on the 16th chromosome.

“There’s still not a lot of information about it,” Justine says. “We were told to not expect him to live past 4, but he made it to his first birthday, which was very important to us.”

While Oliver’s life was brief, his legacy lives on at Mayo Clinic. Three years after he died, the life of Jorie Kraus, another child born with an ultrarare disease, would be transformed because of BabyFORce, the research and treatment procedures that began with Oliver.

Related Content

Baby Oliver Leaves Legacy of Genomic Advances at Mayo Clinic

"Oliver's life was a brief gift, but he left a mark deeper than his time with us."

Read More

There for the Whole Journey

Nothing seemed especially distinctive about Oliver when he was born on Aug. 31, 2020, a day after his due date. Justine’s pregnancy had been uneventful.

But then at 5 ½ weeks old, Oliver had his first seizure. His parents rushed him to a nearby emergency room.

The hospital ran tests but was at a loss to explain the cause of that initial seizure and those that followed. Casey and Justine brought Oliver to Mayo Clinic in Rochester, and he underwent a series of tests, including exome sequencing, which examined roughly 20,000 protein-coding genes, where many diseases originate.

For five agonizing weeks, Casey and Justine waited for the results.

“When you’re sitting and waiting, even for 24 hours, that can feel like a lifetime,” Casey says. “We felt hopeless.”

Finally, Casey and Justine received an answer: WOREE syndrome. It’s a recessive genetic condition that at the time had been diagnosed in fewer than 100 children.

Beyond symptom management, there were no treatments for WOREE syndrome, which carries an average life expectancy of just four years. But there was a new Mayo Clinic pediatrics resident who became very interested in Oliver’s case: Dr. Thompson.

“Dr. Thompson was the first one to really say, ‘I’ll take him,’” Justine recalls. “There were so many unknowns, but she said, ‘Whatever comes ahead, I’m there.’”

Though he was hospitalized multiple times, Oliver was able to spend much of his life at home before passing away on March 10, 2022.

That August 31, on what would have been Oliver’s second birthday, friends and family joined Casey and Justine to release purple balloons. Dr. Thompson was there, and she has returned for the balloon release every year since.

In 2024, the Bates family welcomed a new member: Whitney Bates, named in honor of the physician who had profoundly impacted their lives.

“Dr. Thompson was the person we could always turn to during the hardest time of our lives,” Justine says. “She always made sure that Oliver’s care and comfort were her priority.”

The Search for Faster Answers

The WOREE syndrome diagnosis, while painful to hear, had provided Casey and Justine with a measure of relief.

"Not knowing was so hard,” Casey says. “We feared the worst, and unfortunately we got the worst, but at least we knew why he was so sick.”

Seeing the Bates family endure the five-week wait for answers stuck with Dr. Thompson. She knew that Mayo Clinic could better meet the needs of seriously ill pediatric patients and their families.

The bond we formed is hard to put into words. Being there is my way of continuing to care for his family and honor his life.

— WHITNEY THOMPSON, M.D., M.PHIL.

Benefactor support and a collaboration with Rady Children’s Institute for Genomic Medicine enabled Mayo Clinic to pilot rapid whole-genome sequencing (rWGS) in the Neonatal Intensive Care Unit (NICU). rWGS analyzes a person’s genome — their entire genetic code — in a significantly shorter time frame than traditional WGS, which can take upward of 2–3 months to deliver complete results. rWGS allows clinicians to quickly identify genetic conditions to diagnose — an advantage that can be particularly valuable in critical situations.

During the pilot, which tested 10 babies, Dr. Thompson recalls organizing samples and obtaining consent from families in between her residency work shifts.

"After those 10 cases showed success, Mayo Clinic embraced rapid genome sequencing, and now it’s the standard of care in our NICU,” says Dr. Thompson, who is a Dorothea Berggren Medical Innovation Scholar. “It’s a good example of Mayo’s primary value of ‘the needs of the patient come first.’”

In Mayo Clinic’s rWGS program, clinicians use advanced technology and artificial intelligence (AI) to sequence a patient’s 3 billion DNA base pairs. This comprehensive analysis can identify even the most subtle genetic variants. Though it may not always lead to a diagnosis, it can provide some insights into a patient’s health challenges.

"It’s really humbling to think that because of our son, parents don’t have to wait five weeks for the results, because that was the hardest,” Casey says. “Plus so many things are much more treatable if they can be detected early enough.”

The rWGS program, launched at Mayo Clinic in June 2022, has since been expanded to some adults who exhibit symptoms that suggest genetic disease, enabling them to receive the same rapid, comprehensive DNA analysis. To date, more than 300 infants, children and adults have been offered rapid whole-genome sequencing.

"When you are dealing with an ultrarare disease, it’s surprising how much good you can do with just a diagnosis,” says Laura Lambert, Ph.D., the director of Mayo Clinic’s Functional Omics Resource (FORce). “To tell a family that maybe you could help — or just that you’re willing to try — is life-changing for them. But you can’t try to fix the problem unless you know what the problem is.”

A Powerful Connection

In December 2022, the same year that the rWGS program began in full, Dr. Lambert arrived at Mayo Clinic.

While completing her postdoctoral fellowship at University of Alabama at Birmingham, Dr. Lambert began using an AI tool known as a reasoning agent, which can process information, make decisions and perform tasks based on logical inference. For people with ultrarare diseases, specific reasoning agents can identify treatment options, enabling precision medicine. Mayo Clinic provided Dr. Lambert access to state-of-the-art reasoning agents that could accelerate research.

"We’ve been heavily supported by the institution, not just financially but also through mentorship and the ability to make connections,” Dr. Lambert says. “At Mayo if you say to leadership, ‘I’m going to meet with this big company, can you come with me?’ they’ll say, ‘Of course.’

"And then there’s the way people react when they hear you’re from Mayo Clinic. They’re so excited to meet with us because they really feel hope that we’ll be able to do something.”

Laura Lambert, Ph.D., and Whitney Thompson, M.D., M.Phil.

Dr. Thompson began her four-year dual fellowship in 2023. Not long after, she was in a meeting to discuss a NICU patient and met Dr. Lambert.

The two immediately connected as both friends and colleagues.

"Our professional expertise is so complementary — we’re like puzzle pieces that fit together,” Dr. Lambert says. “We both have our specific areas of expertise and areas where we overlap, but we also really see eye to eye on a lot of things.”

In April 2024, Drs. Lambert and Thompson launched BabyFORce. BabyFORce takes the next step after rWGS, using an advanced understanding of functional omics and AI technology to bridge the gap between diagnosis and treatment for babies with rare genetic diseases.

BabyFORce’s second patient was a girl with an ultrarare disease, whom Dr. Thompson had met a year before: Jorie Kraus.

An Unfixable Condition

Dave and Joanie Kraus had little time with their newborn daughter following her birth.

Jorie’s arrival on June 8, 2023, had come via a planned Cesarean delivery at 33 weeks of pregnancy, three weeks after Joanie had been admitted to Mayo Clinic Hospital – Rochester, Methodist Campus due to preeclampsia, a serious pregnancy complication characterized by high blood pressure and signs of organ damage.

Jorie, who weighed just 3 pounds, 5 ounces, was quickly moved to the Rochester Level IV NICU, reserved for the most critically ill newborns and preemies.

"The pregnancy was really rough, but we thought, ‘It’ll be OK once she’s born,’” Joanie says. “But when she was born, the doctors immediately knew something wasn’t right.”

To tell a family that maybe you could help — or just that you’re willing to try — is life-changing for them. But you can’t try to fix the problem unless you know what the problem is.

— LAURA LAMBERT, PH.D.

Like all parents whose babies are in the Level IV NICU and are suspected of genetic diseases, Dave and Joanie were offered the opportunity to meet with a genetic counselor and learn about rWGS. They decided to proceed with the testing.

The rWGS identified a 27-gene deletion on Jorie’s 10th chromosome, resulting in a shortage of a critical protein from her WAC gene. There was only one possible diagnosis: DeSanto-Shinawi syndrome, a condition that had been diagnosed in fewer than 30 cases worldwide.

Dave and Joanie were told DeSanto-Shinawi syndrome would result in low muscle tone and developmental delays.

"When they told us Jorie had DeSanto-Shinawi syndrome, I remember Joanie said, ‘What does this mean?’ And I said, ‘Well, everything else was fixable. This one isn’t,’” Dave recalls. “I couldn’t have been more wrong.”

Searching for Hope

During Jorie’s 73-day stay in the NICU, the Krauses met Dr. Thompson.

Jorie’s first weeks were frightening as she battled the effects of a condition for which there were no known treatments. Multiple times her vital signs suddenly dipped as her eyes dilated and she stopped breathing.

"The first time it happened, I was holding her, and she went lifeless,” Dave says. “I thought she had died in my arms.”

An otolaryngologist discovered Jorie had a tiny airway that was being further constricted by the low muscle tone caused by DeSanto-Shinawi syndrome. Surgeons fixed the breathing issue by inserting a feeding tube that bypassed her pharynx.

Eventually Jorie was stable enough to live at home, but her parents needed to drive 90 minutes to Mayo Clinic multiple times each week for her care. At a year old she was behind in every development measure: cognitive, receptive language, expressive language, fine motor skills and gross motor skills.

Throughout Jorie’s first year, the Krauses stayed in regular contact with Mayo Clinic and Dr. Thompson. When she and Dr. Lambert founded BabyFORce, they asked Jorie’s parents to consider enrolling their daughter.

Through BabyFORce, Mayo Clinic clinicians can move from diagnosis to personalized treatment and potentially uncover therapeutic options where none previously existed.

Drs. Lambert and Thompson used a reasoning agent to search for Food and Drug Administration (FDA)-approved drugs that might possess additional, unrecognized uses.

"Drug repurposing is the quickest way to help these patients, because it takes years to develop a new drug,” Dr. Lambert says. “Reasoning agents make it possible to match genetic information with existing drugs that we know are safe.”

Jorie’s doctors were looking for a drug that might boost expression of the WAC gene, which provides instructions for making a protein involved in several important cellular processes. Clonazepam, a readily available seizure medication that was first approved by the FDA in 1975, emerged as a promising candidate.

Drs. Thompson and Lambert reviewed the research and decided to test clonazepam on Jorie’s skin cells, where the WAC gene is typically highly expressed. The drug triggered a surge of the critical protein in Jorie’s cells. Multiple tests confirmed the results.

"When the doctors gave us the news, I think they may have been as excited as we were,” Dave recalls. “I don’t know if I’ve ever seen researchers that giddy.”

Because clonazepam was already FDA-approved, the Krauses didn’t have to wait for clinical trials. Jorie was given her first dose of clonazepam on April 1, 2025.

As promising as the labs had been, no one was expecting Jorie’s response.

A Startling Transformation

Development milestones that Jorie had missed — that seemed like they might never occur — arrived in waves.

On April 2, a day after the first dose of clonazepam, 22-month-old Jorie began side-traveling. After three days, she was toddling behind a walker, stable and confident. Within a week, Jorie had mastered going up and down stairs.

It wasn’t just Jorie’s mobility that roared to life. She began speaking — not babbling, but saying clear, distinct words — and she was scribbling with crayons at a level that was developmentally age-appropriate.

"We were so excited with the labs but also nervous,” Dr. Lambert says. “There’s always the chance that it could have been a false-positive, or maybe what worked in cell cultures wouldn’t work in vivo.

“It’s hard to describe how amazing it was to see how well — and immediately — clonazepam worked.”

Jorie has continued to narrow the gap between her development and the typical one of her peers. She loves music, puzzles, fine motor toys, Poke-A-Dot books and memory games.

Dave and Joanie have started The Jorie Effect, a foundation to support BabyFORce. The Krauses want to make it possible for more families to experience what they did: a second chance at a life that once seemed to be slipping out of reach.

“Jorie’s syndrome is like one big processing disorder,” Joanie explains. “It’s really hard for her to tell her feet to move, and she has structural anomalies like low muscle tone that make balance and coordination harder.

"With clonazepam, it was as though the lights came on all of a sudden. Jorie still has a long journey ahead, but it’s like the syndrome is reversing itself, which is just incredible.”

While The Jorie Effect supports BabyFORce, it exists because of baby Oliver, whose case drove Dr. Thompson to champion rapid whole-genome sequencing. Oliver’s legacy lives in every family who receives answers in days rather than weeks at Mayo Clinic.

Now each August, when purple balloons drift over the summer sky in Southeast Minnesota, they mark not an ending but a beginning. It’s the foundation upon which second chances like Jorie’s are built, and the promise that conditions once deemed unfixable might yield something different: hope.

The post To Jorie, From Oliver appeared first on Mayo Clinic Magazine.

Accelerating Hope

Sometimes, one seemingly insignificant moment divides life into before and after. For Karen Koellner, it was the simple act of leaning over in bed to grab her phone charger that changed everything.

The pain was sudden and sharp as she shifted onto her side. She got up and walked to the mirror to see what was wrong. That’s when she discovered a lump under her arm. "I instantly was like, 'Oh my gosh, I must have cancer,’" she says.

The next morning she was on the phone with her doctor, who sent a referral to Mayo Clinic’s Arizona campus. She braced herself for what often comes next in moments like these: waiting. She was told it could take up to a week to receive a call back.

For patients facing a possible life-altering diagnosis, the referral process can feel like suspended time. But Karen’s phone rang just two hours later, thanks to intelligent automation working quietly behind the scenes.

Related Content

The Power and Precision of Automation

Mayo Clinic is creating a blueprint for healthcare’s automated future.

Read More

Finding Hope in a Time of Uncertainty

When something feels wrong, reassurance can’t come fast enough. Getting an appointment on the calendar is the first step toward answers.

"Patients are worried whether or not they're going to get in to be seen," says Erin Layman, operations manager at Mayo Clinic. Timeliness matters just as much. Mayo Clinic in Arizona alone receives more than 60,000 referrals per year, a number that continues to grow.

Until recently, processing those referrals required a time-consuming manual system.

"It took maybe two or three people to validate the faxes," says Gabriel Hernandez, patient liaison at Mayo Clinic. "It could be anywhere from a few pages to a hundred pages, and someone had to scan through each page to determine what each fax concerned."

Because of this lengthy process, there could be delays in callbacks. When patients are seeking care for potentially life-threatening conditions, those setbacks can mean prolonged fear, mounting uncertainty and critical lost time. "Some of these are serious cancer diagnoses, so it's a matter of life and death for some patients," Gabriel adds.

For an organization grounded in providing hope and healing to as many patients as possible, these delays demanded a solution. Mayo Clinic moved quickly to transform the system. That's where generative artificial intelligence (AI) entered the picture.

The Age of Automation

At the scale Mayo Clinic operates, having a human scan every page of every fax to locate key clinical details and determine urgency simply wasn’t sustainable. Referrals were arriving faster than they could be manually processed.

With generative AI’s help, Erin says information can now be quickly extracted from a variety of different documents and summarized into a cover sheet that is reviewed by one of Mayo Clinic’s agents for accuracy. "Then that individual can move it forward to the next step in the process," he says.

This technology doesn’t replace people. Instead, it empowers them by reducing administrative burden to focus on what matters most: the patient.

When the new automated system launched in July 2024, the impact was immediate. With the technology in place, referrals for patients with serious or complex medical conditions are now reviewed and processed in less than 24 hours.

Mayo Clinic trialed its new automated referral system in Phoenix, Arizona, and Rochester, Minnesota. The plan is to expand it to the Jacksonville, Florida, campus in 2026.

A Faster Path to Care

Gabriel says patients are frequently surprised to hear back so quickly. Karen was no exception.

Because the intelligent referral processing system flagged her case as urgent, staff acted quickly. By the next day, appointments were scheduled across multiple specialties and her care team was already coordinating next steps.

Karen’s intuition was right: She was later diagnosed with stage 3 breast cancer. Today, she is cancer-free.

"Time is so important when you get a cancer diagnosis," Karen says.

Erin says Mayo Clinic invested in this technology because patients needed it.

"With this automation, patients are getting the help they need sooner," he says. "For the patients, that means hope."

The post Accelerating Hope appeared first on Mayo Clinic Magazine.

With his mallet in hand and a quiet buzz of anticipation in the air, John lined up for a jump shot — and executed it perfectly. But as the ball moved toward its target, a sharp pain jolted through his arm and shoulder. The next thing he knew, he was at a nearby emergency room.

"They did an X-ray. It clearly showed my arm was broken in half, and that was rather confusing to me,” John says. “I wasn’t an old guy. I was in great shape. There was no reason for my bones to break.”

John and Gail, who split time between Scottsdale, Arizona, and the coast of Massachusetts, traveled to Boston to meet with an orthopedist, wanting to understand what could have caused such a severe fracture. The MRI results found the culprit: a tumor.

An Unexpected Diagnosis

John was diagnosed with multiple myeloma, a rare cancer of the bone marrow that weakens the bone from the inside out. In his case, the cancer had progressed enough to make his arm susceptible to fracture — even during a relatively low-impact activity such as croquet.

“When the doctors came into my room and told me I had this cancer, I’d never even heard of it. No matter how much you think you can be ready for someone to tell you that, you’re not,” John says. “I figured I was going to die within the next month and was running through all the different scenarios: ‘What can I do? What should I do? What do I have to do before I die?’”

It wasn’t long before John was undergoing his first operation to remove the cancer, followed by radiation, chemotherapy and other infusion drugs. Unfortunately, despite these interventions, the cancer still spread to his other arm, prompting a second surgery. “Here I am, both arms in slings at the same time. That made life challenging,” he says.

As John headed home to Scottsdale postsurgery, his future felt uncertain and hope out of reach. But everything changed after becoming a patient at Mayo Clinic.

Finding Hope

As a resident of the Desert Mountain community in Scottsdale, John was able to utilize Desert Mountain CARE to connect with Leif Bergsagel, M.D., an oncologist at Mayo Clinic in Arizona who specializes in multiple myeloma treatment.

“The moment I got an email from him that said, ‘Sure, I’d love to take you on as a patient,’ there was this relief, joy and exhilaration,” John says. “I went from thinking, ‘I’m not going to find anyone’ to having a terrific doctor at Mayo Clinic. When I read that email, I was dancing around the house the rest of the day.”

Dr. Bergsagel, a David F. and Margaret T. Grohne Professor of Novel Therapeutics for Cancer Research, reassured John that most of what’s found online about multiple myeloma is out of date. “It used to be that multiple myeloma was a death sentence, with a survival rate of about three years. That’s no longer the case,” he says.

Mayo Clinic has developed highly effective new treatments that can keep the cancer at bay, giving patients like John hope.

A Path Forward

In January 2023, John received a stem cell transplant while under Dr. Bergsagel’s care. “After a bone marrow biopsy, it became clear that I was doing extremely well against this cancer,” John says.

Stem cell therapy is just one part of a growing number of treatment options for multiple myeloma. Looking ahead, the future of treating rare cancers such as multiple myeloma may include cutting-edge approaches like CAR-T cell therapy — a promising form of immunotherapy that involves reprogramming a patient’s own immune cells to target and destroy cancer cells.

“It sounds like science fiction. We’re harnessing the patient’s T cells to identify the cancer and eradicate it,” Dr. Bergsagel says. “We take the T cells out of a patient and engineer them to recognize the tumor, then put them back in the patient. They expand exponentially and kill the tumor — and keep it away for years.”

Dr. Bergsagel says the goal is to reach the point of being able to treat cancer like a chronic disease, such as high blood pressure.

"We’re getting closer and closer to that. The future is really bright for patients with multiple myeloma,” he says. “We don’t think that we can cure it just yet, but we think we can control it for decades at this point. We’re looking at ways of improving the quality of life for the patients on those therapies so they can basically lead a normal life.”

Back on the Court

Throughout John’s entire cancer journey, he held onto one vision: getting back to croquet.

"When I had my stem cell transplant, I spent most of the day in bed and I would dream of going back on the croquet court and being able to swing my mallet and enjoy my friends, and play with my wife as a partner,” he says.

Now, that dream is a reality. John is back to playing the game he loves, with gratitude in every swing. But for him, it’s more than a return to normal. It’s a reminder of how far he’s come — and how much more there is to look forward to.

“I’ve got my cancer count down now to virtually indistinguishable levels, which is very encouraging to me,” John says. “Dr. Bergsagel assures me that moving forward, we have a good chance of keeping it there.”

The post Back in the Game appeared first on Mayo Clinic Magazine.

Beckett's parents, Tracie Hoggarth and Ron Beyer, took him to his pediatrician. Blood tests revealed elevated liver enzymes, which often indicate inflammation or damage to liver cells.

To find out more about the cause of Beckett's symptoms, the family traveled to Minneapolis to see a pediatric gastroenterologist. At just 8 weeks of age, fearing Beckett had biliary atresia — the most common condition associated with his symptoms at this age — they pursued advanced care to investigate the cause of his liver disease.

For the next 13 years, Beckett's care was managed by a few teams of gastroenterologists in Minneapolis.

After several rounds of genetic testing, they discovered that his liver disease was caused by Alagille syndrome. This rare genetic disease affected his liver and bile ducts by reducing bile flow out of the liver and causing jaundice, which is the darkening and yellowing of the skin and the whites of the eyes. This bile buildup in the liver damages cells, eventually leading to liver failure.

Alagille syndrome can affect the liver, heart, kidneys, skeleton, eyes and blood vessels. Complications of the syndrome may be life-threatening. Fortunately, Beckett's form of Alagille syndrome only affects his liver.

Living With Liver Disease

Beckett is a mechanically inclined 14-year-old who likes lawn mowers, riding four-wheelers, and repairing and driving RC cars. But his liver disease was throwing a wrench in his health and keeping him from doing all the activities he enjoys.

For several years, he had a mass growing in his liver that eventually grew to 10 x 13 centimeters in size. "For three years, they monitored it via ultrasound and secondary conditions from his liver disease with endoscopy, which is how we learned his disease was advancing," recalls Tracie. “When they performed an updated biopsy on his liver, they learned he had advanced cirrhosis.” Cirrhosis is severe scarring of the liver, which makes it difficult for the liver to do its job.

Given a liver transplant was becoming a likely future necessity, Beckett’s family wanted the best for their son — so they sought the medical expertise of Mayo Clinic.

In November 2023, Beckett had an initial consultation and testing at Mayo Clinic in Rochester, Minnesota. The care team at Mayo Clinic recommended that Beckett be put on the liver transplant list before he became more ill.

With stage 4 liver cirrhosis and a tremendously enlarged spleen, Beckett dealt with difficulty breathing due to his firm liver pressing against his diaphragm. Not only did he have a distended belly and chronic back pain from his liver disease and his enlarged spleen, but low platelet count put him at an increased risk of bleeding.

He had a yellow cast to his skin and was in end-stage liver disease — things that had just become normal for him. But his blood tests showed he was on the cusp of crisis.

The request to put Beckett on the transplant list was approved, and he was placed on the list in mid-February. During appointments with the liver transplant team, Beckett shared, "Maybe I'll get a liver by my birthday."

His birthday on April 1 was quickly approaching, and getting a liver often takes months, so getting his birthday wish seemed unlikely.

The Call That Changed Everything

Eleven days after Beckett officially went on the transplant list, Ron received a call from a Minnesota phone number.

"It'd only been a couple of weeks since we were in Rochester, and I thought maybe Mayo Clinic needed more information or was calling about another test," recalls Ron.

But the care team had something else in mind — a liver for Beckett.

The family had eight hours to get from North Dakota to Mayo Clinic in Rochester. Ron called Tracie home from work. He called the school to let them know a liver was available for Beckett and to send Beckett and his sister home immediately.

When the call came in, Beckett was in history class. "The teacher was about to start teaching, but then they said, 'Beckett, you can head to the office.' And I'm like, what for? I didn't think I was in trouble," Beckett says.

Rather than being in trouble, Beckett soon learned that he was in luck.

Out With the Old, In With the New

Timucin Taner, M.D., Ph.D., a transplant surgeon at Mayo Clinic, performed Beckett's transplant on March 13 — just two weeks before his birthday.

"The only treatment for patients with cirrhosis is a liver transplant. Cirrhosis is a chronic disease that does not get better with other treatments," notes Dr. Taner. "Beckett needed a new liver, without any doubt. Without a transplant, Beckett would have continued to have jaundice, and his fatigue and other symptoms would have continued to get worse."

“I remember it vividly,” Tracie says. “I was astonished and grateful for the surgeon. Dr. Taner even took the time to wheel Beckett in his hospital bed down to the surgical suite.”

After hours of tenuous waiting, the transplant was a success. The transformation was noticeable. The night before the transplant, Beckett's eyes were yellow-tinted, but the morning after the transplant, they were already white, recalls Tracie.

Beckett recovered in the pediatric intensive care unit at Mayo Clinic for the next 10 days.

"I got the power-reclining bed with the remote and all the warm sheets I needed," says Beckett.

He was kind of sad to get discharged. He was getting like a five-star hotel experience. It says volumes about the care they got when somebody is sad to get discharged.

— Tracie Hoggarth

Visits from a Caring Equine miniature pony named Munchkin and a pet therapy dog named Benny Burrito were highlights of his stay.

"He was kind of sad to get discharged. He was getting like a five-star hotel experience," laughs Tracie. "It says volumes about the care they got when somebody is sad to get discharged."

Beckett and his parents note that all the staff they encountered were exceptionally kind and professional. The entire team — the pediatric intensive care unit doctors, his gastroenterologists, the nurses and the support staff — cared about Beckett and his journey.

Loving His New Liver

Since getting the transplant, Beckett can go on long walks. He has more energy, can breathe much better and has less back pain.

"I would get winded just walking, and I couldn't play football or participate in contact sports," says Beckett when thinking back to life before his transplant. "I felt stuffy after I drank or ate a lot. And then when I had my transplant, it felt like I had a lot more space."

Beckett's medication regimen has significantly improved. Previously, he endured a challenging schedule with many daily pills, a bitter-tasting oral medication, and daily self-administered injections. Now, he takes a set of pills in the morning and early evening.

Samar Ibrahim, M.B., Ch.B., a pediatric transplant hepatologist at Mayo Clinic, manages Beckett's ongoing care. Dr. Ibrahim routinely monitors Beckett's medication regimen and watches for signs of rejection or infection in his lab work.

"Beckett's new liver is functioning normally, so his symptoms of end-stage liver disease are gone," says Dr. Ibrahim. "He will get to live his life like any other teen and celebrate many more birthdays."

For Beckett and his family, receiving a new liver was the best birthday gift they could have imagined. "When he got the liver before his birthday, we were astonished," says Tracie. "We will be eternally grateful for that."

A version of this story was published on Mayo Clinic News Network.

The post Beckett’s Lifesaving Birthday Gift appeared first on Mayo Clinic Magazine.

His ability to fly and run again was restored thanks to a special procedure Mayo Clinic surgeons call "onco-regeneration" — a partnership between orthopedic oncologists and plastic surgeons that returns muscle strength and function to patients who have lost them after surgery to remove soft tissue sarcoma.

Had his condition occurred a few years earlier, Chris may not have made such a remarkable recovery from the severe calf pain that interrupted one of his regular evening jogs just before his 53rd birthday in 2019.

Chris’ wife, Davie, a nurse, insisted he seek medical attention after the swelling of his leg hadn’t subsided in a few days. Local providers initially diagnosed a pulled muscle. But three months later, a concerning lump remained on the back of his knee. An MRI revealed that he had cancer in his thigh.

Davie reached out to a contact she had at Mayo Clinic, Alexander Shin, M.D., an orthopedic hand and microvascular surgeon. It was recommended that Chris make an appointment at Mayo Clinic.

A Rare Diagnosis

Chris flew himself and Davie from their Overland Park, Kansas, home to Rochester, Minnesota, to meet with Mayo Clinic’s Matthew Houdek, M.D., an associate professor of orthopedic surgery and the fellowship director for musculoskeletal oncology.

Chris had myxoid liposarcoma, an extremely rare form of cancer. Although it had been caught before it metastasized, Chris still needed five-day-a-week radiation sessions for five weeks, followed by surgery.

When Chris asked if he should go back home for treatment, Dr. Houdek’s response made the decision clear.

“I could see him thinking about how to nicely say it,” Chris recalls. “He said, ‘Well, I’m sure they’re good, but my team sees this type of cancer every day of the week. Most other places don’t see more than one of this type of cancer a year.’”

That was all it took for Chris to know he should stay at Mayo Clinic.

A Breakthrough Approach

Dr. Houdek and Steven Moran, M.D., a Mayo Clinic plastic surgeon, led the surgical team that operated on Chris in 2019. It quickly became clear there was no saving Chris’ hamstring. Cancer had consumed nearly all of it, and doctors took the rest.

To replace it, they took a latissimus dorsi muscle from Chris’ back and fashioned it into a new hamstring.

“They basically had to play the board game Operation with me,” Chris jokes. “It was amazing.”

The Road to Recovery

It was three months before Chris was allowed to put any weight on his leg. Six months later, he was able to walk up to three miles at a time.

“Mr. Reedy is a testament to how resilient patients with a soft tissue sarcoma are,” Dr. Houdek says. “He did the hard work in the recovery process to get to where he is now.”

By using onco-regeneration, Mayo Clinic surgeons had leveraged the body’s ability to regenerate muscle strength.

“It takes a team to be able to do these procedures,” Dr. Houdek says. “Thankfully we have the collaboration between us, our plastic surgeons, radiation oncologists and medical oncologists to advance functional outcomes for patients undergoing limb salvage surgery.”

Taking Flight Again

Two years after the surgery, Chris was back to jogging. But his real goal was to return to the cockpit.

Chris learned how to fly while in college and is the president and CEO of Butler National Corporation, an aerospace and professional services company. He worried he might not ever pilot a plane again.

“Flying is awesome,” says Chris, who shares two planes with his brother and uncle. “It devastated me to think about not being able to fly again. But Dr. Houdek was always so positive about regenerative medicine. He has outcomes that other people don’t.”

Cleared for Takeoff

Chris’ friends in the aviation community told him that if he could get a recommendation from Mayo Clinic, it would help him in his quest to get his pilot’s medical certificate back. Almost a year to the day from his surgery, with the help of Steven Robinson, M.B.B.S., he received a letter of recommendation from Mayo Clinic’s Section of Aerospace Medicine. Shortly thereafter, the Federal Aviation Administration provided a special medical authorization restoring his pilot privileges.

A 2022 recurrence of cancer also didn’t slow Chris down when a tumor was found on his spine. He sent his MRI results to Dr. Houdek, and a few days later Chris was in Rochester, being introduced to Peter Rose, M.D., an orthopedic surgeon at Mayo Clinic.

Dr. Rose removed the tumor from Chris’ back without hampering his mobility so that Chris could get back to what he loves — living life without limits.

“Within about a month, I was back in action,” Chris says. “Mayo Clinic doctors are phenomenal. They’re skilled and exceptionally intelligent, and they get back to you much quicker than other doctors do when you send them a message. They just take great care of you.”

The post Taking Flight Again appeared first on Mayo Clinic Magazine.

Face in the Mirror: The Story Behind Mayo Clinic’s First Face Transplant

The following is an excerpt from Face in the Mirror by Jack El-Hai — a book that follows the journey of Andy Sandness, who received the first face transplant at Mayo Clinic. Proceeds are invested into furthering medical research and education at Mayo Clinic.

Andy felt calm when he checked into the Rochester hotel where he would spend the night before his face transplant began. He no longer felt scared. Focused on the surgery, he forgot to check on the outcome of the NHL Stanley Cup championship game that day, diehard sports fan though he was. As he prepared for bed, he strove to relax and mentally prepare himself for the momentous event ahead.

The next morning, transplant nurse coordinator Lori Ewoldt walked Andy the short distance from the hotel to Saint Marys. She was relieved to have been able to share some laughs with him the previous night after the ambulance finally made its rendezvous with his taxicab. It was hard not to look at him through a mother’s eyes. He was young enough to be her child. The calmness with which he faced the long surgery ahead impressed her.

After Andy’s admission to the hospital, Mayo Clinic plastic surgeon Samir Mardini, M.D., visited Andy in his room. He and Andy shook hands and started talking. Dr. Mardini explained some technicalities and paperwork they had to get out of the way. He presented Andy with the final consent forms to sign. They had spoken together many times previously about the risks and consequences of the surgery, but discussions just before serious operations often carry a stronger urgency than conversations that happen way in advance, when the surgery seems merely a possibility. Dr. Mardini asked Andy if he was certain he wanted to undergo the transplant.

“Yes, I’m ready,” Andy replied.

“We’re going to do the best we can,” Dr. Mardini said. “Do you have any questions?”

Research fellow Marissa Suchyta, M.D., Ph.D., was present, and Andy’s composure surprised her. “He was so ready for this to happen and had so much trust in the team that he had no hesitation signing those consent forms,” she said.

Hatem Amer, M.D., too evaluated Andy. He once again told Andy about the risks and possible complications of the face transplant. They also discussed Andy’s CMV mismatch with the donor’s tissues and the medications and treatments that could minimize any potential problems. Dr. Amer judged that the risk of Andy undergoing anesthesia was acceptable.

Related Content

AI’s Role in Kataliya’s Heart Transplant Journey

For Kataliya, AI was more than just a technology — it was a lifeline.

Read More

Dr. Mardini asked Mayo photographer Eric Sheahan to take a portrait of Andy to record what Andy looked like before the face transplant. Sheahan introduced himself and explained his mission. He thought his request made Andy uncomfortable. Andy treated Sheahan kindly, but “there was tension in the room,” Sheahan said. Andy did not want to look at the camera, but Sheahan was able to capture images of Andy that showed his high emotions at the time.

Even though the face transplant would not start until the early morning hours of Saturday, the team was notified and ready by midafternoon on Friday. Dr. Mardini suggested to Karim Bakri, M.B.B.S., that they use the time remaining to go home and get some sleep. Both men returned home, but neither slept. Dr. Bakri and his wife had two small children. That week his mother-in-law was a houseguest. To maintain Andy’s privacy and the secrecy of the transplant, Dr. Bakri had to hide from her what he would be doing for the next three days. “She thought I was on call, except that I went out Friday night and didn’t come back until Monday,” he said. He added, smiling: “It was a complicated case, you know.”

Dr. Bakri did not feel stressed, but he was aware of the high expectations he, Dr. Mardini, and the other team members shouldered. They were going into a type of surgery that had never been attempted at Mayo, but their practice on cadavers had led them to believe it could be done successfully. Dr. Bakri described his feelings at the time as “not wanting to disappoint, wanting everything to go really smoothly in something that you’ve never done before.” He did not know what was going to happen, and he felt like he was taking a trip to the moon without knowing if he would be able to return to Earth.

Open image in lightbox

A LOOK INSIDE
FACE IN THE MIRROR

For years, they came in on weekends to plan and practice — nearly 60 surgeons, nurses, and anesthesiologists, preparing to harmonize in a vast medical symphony. For the team at Mayo Clinic, it was their most complex surgery to date: a face transplant.

At the heart of this event was Andy Sandness. He grappled with feelings of isolation and shame after a disfiguring suicide attempt but was determined to reclaim his future, to be seen as ordinary, and to belong again. Alongside him was Dr. Samir Mardini, a surgeon with an intense, unwavering desire to transform medicine and create a new life for his patient.

Their story — told over nearly two decades — is a poignant exploration of resilience, hope, and friendship, as well as an incredible account of medical breakthroughs and scientific discovery that reveals the strength of the human spirit, and the courage to rise above our scars.

Buy Now

Early on Friday, Dr. Mardini held a team meeting. The group included Katie Weimer, vice president of 3D Corporation, the company that had provided the three-dimensional models the team used in its rehearsals. Weimer had been involved from the start in the virtual surgical planning aspects of the surgery. “The day has come,” Dr. Mardini said at the start of the meeting. “We have all put in so much time and effort and thought into this — we could not be more ready.” He felt no need to review the operation itself after so many rehearsals in the cadaver lab. Instead, Dr. Mardini presented a schedule for breaks to ensure a high-performing team at the transplant’s conclusion, when it would be needed most. He asked team members to take breaks when asked, and not do the courteous thing and offer to keep working.

Knowing the transplant surgery was imminent, ophthalmologist Elizabeth Bradley, M.D., had canceled all her other appointments starting Friday afternoon. After the meeting, Dr. Bradley needed stress relief, so she worked out at the on-site fitness center and returned to duty by late afternoon. Dr. Mardini let her and other members of the surgical team know that he would handle last-minute preparations and that they should take it easy, sleeping if possible, until later. The operation was still some hours off, and Dr. Bradley went home to rest. The call to report in came at 2 a.m. Saturday morning, awakening her. She was back at the hospital at 3 a.m.

Andy had presented himself for the face transplant in excellent physical condition, and he seemed to Dr. Mardini to be at prime readiness. The surgeon estimated that Andy had worked out five or six days per week before the operation in addition to his rigorous outdoor activities on the job. “He was healthy-looking and strong in his mind,” Dr. Mardini said. “He said he knew we were preparing hard, and he wanted to do the same.”

Related Content

A Promise Delivered: A New Heart for a New Mom

Promise's new heart has allowed her to celebrate many milestones, including her son's first birthday.

Read More

Andy’s dad, Reed, was able to travel to Rochester on short notice for the operation (he ended up staying in Rochester for three months). After booking a hotel room across the street from the hospital, he got lost trying to find Andy’s hospital room. It took a while for him to find it, but he did. Just before the transplant began, Reed gave Dr. Mardini a handshake and a hug, and Andy told Reed he loved him.

Great care was to be taken with the nerve segments to ensure that Andy’s new facial muscles could accurately respond to signals from his brain. If it was done correctly, then when Andy wanted to smile, impulses from his brain would activate the corresponding transplanted facial nerves to correctly curve the mouth upward rather than close the mouth or perform another unintended movement. The same painstaking process would enable Andy to speak, cry, and perform other facial functions correctly. To ensure that all the nerves matched properly between the donor and Andy, Dr. Mardini asked Mayo resident Waleed Gibreel, M.B.B.S., who would later join Dr. Mardini’s craniofacial team at Mayo, and research fellow Dr. Suchyta to watch and double-check the videos showing the stimulation of the nerves of the donor and patient. Dr. Mardini and the team then knew with certainty which nerves to connect from Andy to the donor.

In Andy’s suite, Mayo’s videographers used an eerily silent overhead video system that they controlled from a console. It had an arm that rose above the surgery and shot straight down. It ran constantly, supplemented by footage from handheld cameras. “We got engaged,” Sheahan said. “We made sure the camera was where it needed to be. We didn’t let somebody stand in the way, and we spoke up when we needed to take a photo, because we were helping Andy [to] have greater success when we spoke up if something was not right.” Sheahan’s aggressive methods in the operating room, shooting in the intense quiet, led him to call himself “the surgeon’s henchman.”

“You weren’t just there to capture images,” said Mayo photographer Kevin Ness. “You engaged yourself in the surgery, so you knew what’s going on and you knew when there was a picture needed. And you were right there, and they didn’t even have to ask you to take a picture. You just did it.”

This photographic diligence was necessary not only to document the face transplant and crucially aid in the surgery but also to preserve what transpired in the surgical suites as a learning aid for surgeons and perhaps face transplants to come. The record of this long weekend for Andy and Dr. Mardini in Saint Marys would teach and inspire caregivers far into the future.

To follow the rest of Andy’s journey, read Face in the Mirror.

The post Face in the Mirror: The Story Behind Mayo Clinic’s First Face Transplant appeared first on Mayo Clinic Magazine.

Positive Mindset, Mayo Clinic Care Put a Paralyzed Runner Back in the Race

Ask two-time marathon runner Ian Bowen why he runs and he’ll offer a simple answer: “Because I can.” That ability wasn't always a given.

At 32, Ian was diagnosed with neurosarcoidosis, a condition causing inflammation of the spinal cord and brain. Reaching this diagnosis required a spinal cord biopsy that left him paralyzed from the chest down.

With support from his Mayo Clinic physical and occupational therapists, he pushed hard toward recovery and running again. The initial goal was to relearn basics, like how to shave and dress.

“But that was nowhere near where my story was going to end,” he says.

Unusual Symptoms

In early 2009, Ian felt a tingling sensation in his right thigh. Over the course of about a week, it spread to his left leg and down both legs to his toes. Pain developed in his pectoral muscles, and it intensified when he would lie down to sleep.

Ian went to his family doctor, suspecting the chest pain might be from weightlifting. In past checkups, his doctor had always said he was the picture of health. 

He had two MRIs over the course of two weeks. The first suggested a mass on his spinal cord. The second confirmed the mass and that it was growing rapidly — but it wasn’t clear if it was cancer or another condition.

Ian’s doctor said he needed a specialist for an accurate diagnosis, fast. He left his home in Northwest Indiana for Mayo Clinic.

A Hard-Won Diagnosis

When Ian arrived in Rochester, Minnesota, his care team conducted thorough testing, from MRI imaging to blood, urine and spinal fluid analysis. But the results remained inconclusive.

His doctors couldn’t determine whether the mass was cancer or a condition known as neurosarcoidosis without taking a biopsy, a high-risk procedure given the mass’s location on the spinal cord. “They made it clear that this is a very risky surgery and you could be paralyzed for the rest of your life,” he recalls.

Ian opted for the biopsy. When he woke up from surgery, his doctors told him the good news: It wasn’t cancer. They could begin neurosarcoidosis treatment, which at the time typically involved prolonged courses of steroids. Today, there are also nonsteroidal neurosarcoidosis treatments available.

However, there was also challenging news. After the biopsy, he had significant weakness in his legs and a loss of sensation in his lower body.

It was now June. He had registered for a 5K that August, and his thoughts immediately turned to how soon he could train again. He was told he would probably walk someday with the assistance of a walker or cane, but running would be more difficult.

In that moment, Ian set a goal to run a marathon despite never running more than four miles before in his life.

Joy Through Recovery

Ian worked with Mayo Clinic physical and occupational therapists over several weeks to regain motion while relearning skills to function at home. Rachel Linbo, a therapist on his care team, was frequently by his side. “In the beginning, she would move my legs just to help my brain remember how to move,” he says.

As feeling slowly returned, they progressed to more challenging tasks. “As an athlete, when you have an injury — especially if you are training for a run — you want to be better yesterday,” Ian says. “Rachel was always open to me wanting to push the envelope.”

If you have your brain energy and heart energy in alignment, I truly believe you can accomplish what is said to be the impossible. I am living proof of that.

— IAN BOWEN

In Rachel, Ian found a supporter whose positive attitude matched his own. “Rachel was always open and happy, and I think that’s why we got along so well,” he says. “She was exactly what I needed.”

Before leaving Mayo Clinic, Ian connected with a therapist at home who would continue helping him work toward his goals. Rachel expected that he would keep regaining function.

“But if you asked me if he would run a marathon, I would never have predicted that,” she says.

Ready to Race

Ian still had that 5K race on the calendar, and he was determined to be at the starting line — and two months after his surgery, he made it a whole mile with his walker before stopping.

About 18 months after surgery, he started walking without a cane. The next year, he ran a full 5K. That fueled Ian even more, and longer distances followed.

When Rachel saw on social media that Ian had run a half-marathon, she sent him a message: “This is amazing.”

Related Content

A Phoenix Rising

Kelli Bartol found a new creative outlet for sharing her cancer journey.

Read More

In 2022, Ian completed the Indianapolis Monumental Marathon at a 14-minute-per-mile pace, and in 2024, he ran the Med City Marathon in Rochester, beating his previous time by a full hour.

When he crossed the finish line, Rachel was there cheering, along with other members of his Mayo Clinic care team, including neurosurgeons William E. Krauss, M.D., and Jamie J. Van Gompel, M.D.; Amy Sikkink, a therapy technician instrumental in his recovery; and Mark W. Christopherson, M.D., his physiatrist, who is now an emeritus physician.

“I was shocked,” Ian says. “It was amazing that these people who hadn’t seen me since 2009 remembered me and cared enough to come out and support me.”

Great Strides in Neurosarcoidosis Diagnosis

Neurosarcoidosis symptoms can come in many forms, including sensory changes in the arms and legs, bladder dysfunction, constipation, hearing loss, walking problems, and weakness in the face and limbs, says Mayo Clinic neurologist W. Oliver Tobin, M.B., B.Ch., B.A.O., Ph.D. The onset of symptoms is slower than for other inflammatory conditions, such as multiple sclerosis. 

It’s unlikely that a patient today would receive a spinal cord biopsy, says Dr. Tobin. In the years since Ian’s biopsy, Mayo Clinic neurologists have developed advanced diagnostic techniques that allow physicians to identify neurosarcoidosis from MRI images and spinal cord fluid with greater confidence and lower risk.

A Mindset Message

Ian has continued to make great progress in his recovery and professional life. He uses his story to inspire others — both at the gym he now owns and through his work as a motivational speaker.

Ian attributes his remarkable recovery to his Mayo Clinic care team and his positive mindset. “If you have your brain energy and heart energy in alignment, I truly believe you can accomplish what is said to be the impossible,” he says. “I am living proof of that.”

The post Positive Mindset, Mayo Clinic Care Put a Paralyzed Runner Back in the Race appeared first on Mayo Clinic Magazine.