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2 days ago · Seeing Is Believing With Help From a Mayo Clinic Retinal Specialist

When complications from diabetes threatened his vision, eye surgery and laser treatment at Mayo Clinic Health System in Eau Claire restored Brad Stevens' sight.

When complications from diabetes threatened his vision, eye surgery and laser treatment at Mayo Clinic Health System in Eau Claire restored Brad Stevens’ sight.


Brad Stevens, a 37-year-old from Boyceville, Wisconsin, has Type 1 diabetes. Often diagnosed in childhood, the disease is a chronic condition in which the pancreas produces little or no insulin. As a result of his diabetes, Brad developed diabetic retinopathy, an eye disorder caused by damage to the blood vessels in the tissue at the back of the eye. If left untreated, diabetic retinopathy can eventually threaten a person’s vision.

Brad also developed a serious complication of diabetic retinopathy called vitreous hemorrhage, or bleeding in the eye, along with retinal detachment. That led to severe vision loss in his right eye. He was at risk for total vision loss if the condition was not aggressively treated.

“I was seeing a big blur spot in my vision. It was getting darker and darker and harder to see,” says Brad, a father of two who enjoys hunting, fishing and anything outdoors.

That’s when Brad went to see Wayne Wu, M.D., in the Eye Care Center at Mayo Clinic Health System in Eau Claire, Wisconsin.

Critical care just in time

When Dr. Wu first examined him in August 2016, Brad had reasonable 20/30 vision in his left eye but next to no vision and a total retinal detachment in his right eye. He also had advanced proliferative diabetic retinopathy in his left eye. That meant he was on the brink of bleeding and developing a situation in his left eye similar to the one that already had materialized in his right.

A week after that appointment, Dr. Wu performed a type of eye surgery known as a vitrectomy on Brad’s right eye, along with a laser treatment to repair the detached retina.


“I’ve seen a lot of improvement. It seems like it always gets clearer and clearer.” — Brad Stevens


“Basically, we removed the blood and fixed the retinal detachment, and then performed laser treatment on the outside,” says Dr. Wu. “We also put a gas bubble in the eye, which remained in the eye for several weeks to help the retina to heal.”

Using laser treatment, Dr. Wu stabilized Brad’s left eye to avoid future complications in that eye.

All clear, and getting clearer

Brad’s surgery went well. Now, more than a year later, he says he’s highly satisfied with his visual function.

“I’ve seen a lot of improvement,” says Brad, who has resumed all of his normal activities, including reading and driving. “It seems like it always gets clearer and clearer.”

At Brad’s most recent follow-up appointment, he had 20/30 vision in his right eye and 20/25 vision in his left. And because of the treatment, his damaged retina has stabilized. As long as Brad continues to control his diabetes, Dr. Wu believes his condition will remain stable long term.


“I rate their care a 10 out of 10, and Dr. Wu is excellent.” — Brad Stevens


Brad says he can’t thank Dr. Wu and his medical team enough for the high level of care they provided him.

“I rate their care a 10 out of 10, and Dr. Wu is excellent,” Brad says, noting that Dr. Wu provided a thorough explanation of everything he was going to do, which Brad found comforting.

“At the same time, he didn’t overshoot the expectation,” Brad says. “When I became better than what he told me I should expect, that was even better.”


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3 days ago · Second Opinion Shifts Aspiring Filmmaker's Outlook

Devan Brady was frightened by an ominous diagnosis before a trip to Mayo Clinic helped her get a clearer picture of her medical situation.

Devan Brady was frightened by an ominous diagnosis before a trip to Mayo Clinic helped her get a clearer picture of her medical situation.


As a young girl growing up in Buffalo, New York, Devan Brady enjoyed a bedtime story selection that was more a survey of American literature than preschool perennials. She remembers her father reading Moby-Dick to her when she was just 3 years old.

“My dad went for the big guns,” Devan says. “The bigger the book, the better.” These adventures unleashed Devan’s imagination. As she grew older, she saw some of her favorite books, such as the Harry Potter series, leap from the page to the big screen. Devan knew there was only one path forward for her: creating magical worlds for kids who love to escape through books and film, just like she did.

But after Devan graduated from college in 2016 with a degree in media production, a medical scare threatened to steal this dream. After an initial misdiagnosis, a comprehensive evaluation at Mayo Clinic helped rule out a serious illness and put Devan back on track to achieving her goals.

An alarming finding

An avid traveler, Devan was on a flight to Japan in January 2016 when she noticed her legs kept falling asleep. She knew that was common on long flights, but the frequency and severity were still puzzling to her. Later that year, Devan was working three part-time jobs: production assistant on a local film crew, wedding photographer and restaurant server. While on her feet for a restaurant shift, Devan felt her legs go numb again. She didn’t regain full sensation in them for several hours.

Worried, Devan called her local primary care provider, who ran some blood and imaging tests. The results were normal, but her doctor referred Devan to a neurologist for further evaluation.

In the weeks between appointments, Devan didn’t experience any additional episodes and started to think she was in the clear. After completing a more rigorous set of tests with the neurologist, Devan expected to hear that she had something relatively simple, such as a pinched nerve. She didn’t expect to leave his office with a diagnosis of the autoimmune disease neuromyelitis optica, commonly known as NMO.


“To tell a 22-year-old girl that you could lose your eyesight or use of your legs, that’s scary.” — Devan Brady


Neuromyelitis optica occurs when the body’s immune system produces a molecule called an antibody that mistakenly targets healthy tissue. Antibodies normally attack invaders such as cancer or infections, so the immune system can clear those damaged cells out of the body.

But with neuromyelitis optica, antibodies attach to healthy tissue in the central nervous system — mainly in the optic nerves and spinal cord but sometimes in the brain, too. As a result, people with the condition can experience blindness, weakness or paralysis in the legs or arms, and painful spasms.

An uncertain future

“For the whole month of October, I was on edge,” Devan says. “To tell a 22-year-old girl that you could lose your eyesight or use of your legs, that’s scary. What is my life going to be like? I’m going to live in constant fear of losing the ability to do what I love.”

While the neurologist couldn’t confirm the diagnosis through an MRI, Devan tested positive for the antibody in two blood tests, so the physician prescribed a drug to suppress her immune system. That would inactivate the circulating antibodies and stop their production, which could prevent further attacks.

The prospect of a lifetime of taking powerful drugs was just as startling to Devan as the diagnosis. Because her local neurologist had only seen a handful of patients with the condition, Devan and her father, a nurse with the Veterans Health Administration, began researching options for a second opinion. Through friends and her father’s colleagues, Devan learned about Mayo Clinic’s Department of Neurology and its expertise in neuromyelitis optica.


“Especially since the test for NMO was created at Mayo Clinic, we thought if anyone would know about this, they would.” — Devan Brady


For many years, what is now known as a spectrum of neuromyelitis optica disorders — sometimes called Devic’s disease — commonly was misdiagnosed as multiple sclerosis. But in 2005, physician-scientists and laboratory researchers at Mayo Clinic discovered a unique antibody specific to the neuromyelitis optica. This breakthrough allowed for the development of a diagnostic test for the disease, ensuring that patients get the right treatment, right away.

“Especially since the test for NMO was created at Mayo Clinic, we thought if anyone would know about this, they would,” Devan says.

Another take

Devan and her father made the trip to Mayo Clinic’s Rochester campus in November 2016 and met with neurologists B Mark Keegan, M.D., and Natalie Parks, M.D., a former Mayo Clinic fellow now at Dalhousie University in Canada. As a provider in Mayo’s Center for Multiple Sclerosis and Autoimmune Neurology, Dr. Keegan regularly sees patients seeking second opinions for diagnoses ranging from multiple sclerosis to neuromyelitis optica and a variety of rare inflammatory diseases affecting the central nervous system.

The team explained that Dr. Parks would do an in-depth examination with Devan and discuss the results with Dr. Keegan. Then Dr. Keegan would do a second examination. After comparing their notes on Devan’s medical history and physical tests, Dr. Keegan shared the team’s conclusion with Devan.

“He said, ‘If you would have come here after that first day that you had issues and told me your symptoms, I never would have even thought to test for NMO,” Devan recalls. But despite the lack of other evidence for a connection to neuromyelitis optica, the team would need to test for the condition because of the previous positive result.

The first step was to repeat Devan’s blood work, but this time using a more sophisticated version of the neuromyelitis optica test that Mayo Clinic has refined over the past decade. If the test came back positive, Dr. Keegan would perform an MRI to look for lesions on her spine. If it came back negative, he would be reasonably confident that Devan did not have the condition.

Because getting the blood test results would take a few days, Devan and her father returned to Buffalo to await the news. A week later, Devan was back at work on a film set when she got a call from Mayo Clinic. It was Dr. Parks with her test results: Devan did not have NMO.

Listening to Dr. Parks explain that the local test results were false positives, Devan started crying tears of relief. She immediately called her father, who interpreted the emotion in Devan’s voice as a bad sign.

“He was like, ‘It’s OK. It’s OK. We’ll book a flight to Rochester.’ And I was saying, ‘No, Dad, the test was negative.’ And I just heard him go, ‘Woo-hoo!’ Like, screaming on the phone.”

Dr. Keegan called a few days later to reassure Devan about the results. In his opinion, Devan’s local neurologist likely relied too heavily on the less-sophisticated blood test to make a diagnosis and didn’t factor in the complete picture — Devan’s normal medical history, evaluations and MRI test — plus the fact that Devan’s symptoms were not specific to neuromyelitis optica.

Devan has been in good health since her visit to Mayo Clinic, which she credits to staying active and sticking to a workout routine. And she hasn’t had a return of the symptoms that caused her to worry. She now says her only fear for the future is the same as any college graduate’s: finding a job.

But armed with the same boundless imagination that fueled her childhood dreams, she knows the possibilities are limitless.

Note: A version of this story previously appeared in Mayo Clinic Magazine.


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6 days ago · A Poignant Farewell as Teen Wraps up Proton Beam Therapy

It was a long road through proton beam therapy for 14-year-old Octavio Moreno Lara. But compassionate care from his Mayo Clinic team, coupled with some fun events, lightened the mood along the way.

Octavio Moreno Lara and his family line up for a team picture: grandmother, Guadalupe Cortes; dad, Felipe Moreno Longoria; Octavio; mom, Xochil Lara Cortes; and front row, Octavio’s sister, Carolina Moreno Lara.

It was a long road through proton beam therapy for 14-year-old Octavio Moreno Lara. But compassionate care from his Mayo Clinic team, coupled with some fun events, lightened the mood along the way.


Octavio Moreno Lara describes his last proton beam treatment at Mayo Clinic’s Arizona campus as “bittersweet.” The “bitter,” he says, was “having to lie so still during my treatment with nothing to do,” something most active 14-year-olds might find frustrating. But Octavio says the “sweet” part was “all the therapists who treated me so well.”

The six weeks Octavio spent in Mayo Clinic’s Proton Beam Therapy Program were focused on treating a cancerous brain tumor. Although the treatment wasn’t easy, he says the compassionate care he received, along with some special outings he enjoyed during his time at Mayo Clinic, made it a bit easier to take.


“It is great to be Octavio’s dad. But it has been painful to see him go through so much suffering.” — Felipe Moreno Longoria


Octavio’s issues began five years ago when he went through two brain surgeries to treat several brain tumors. Octavio says that the symptoms caused by his condition were difficult to handle, especially at school, where he says he “fell down a lot.” Schoolwork was also a challenge. “It was getting hard to keep up the pace,” he says.

It’s been a tough road for his family, too.

“It is great to be Octavio’s dad,” says Felipe Moreno Longoria. “But it has been painful to see him go through so much suffering.”

There have been bright spots, though. Reflecting on his extended time at Mayo Clinic for proton beam therapy, Octavio lights up when he describes a fun night out with his dad. It was a much-needed respite when an anonymous donor provided Octavio with two tickets to an Arizona Diamondbacks game against the San Francisco Giants.

“The D-Backs won!” says Octavio, adding that the night with his dad was very special.

Octavio also attended a professional soccer game featuring the Phoenix Rising, where he was escorted onto the field by the team captain, so he could be with the players during the national anthem.

On his last day, Octavio’s family — his mom, dad, sister and grandmother — were there for his send-off. To preserve the memory of his time at the ballgame, the family lined up, team-style, for a photo.

Octavio’s therapists also describe the completion of Octavio’s treatment as bittersweet. They came out to witness Octavio ring the bell in the treatment area — a tradition that marks the final day of therapy.


“All this makes it hard to leave.” — Octavio Moreno Lara


Seeing their patient leave was exciting, yet emotional for the proton beam team, who describe Octavio as a “great, well-mannered kid.” Hugs were plentiful as Octavio and his family said their farewells.

Octavio told his care team: “All this makes it hard to leave.”


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Fri, Jan 12 9:21am · Successful Surgery Opens the Door to Brighter Days Ahead

When a nerve tumor threatened Ana Paula Wiechers health and mobility, a team of specialists at Mayo Clinic came together to perform a complex surgery that removed the tumor without any long-term complications.

When a nerve tumor threatened Ana Paula Wiechers health and mobility, a team of specialists at Mayo Clinic came together to perform a complex surgery that removed the tumor without any long-term complications.


After graduating from high school in Mexico City in 2017, Ana Paula Wiechers traveled to Europe with a group of girlfriends. While there, she took pleasure in admiring the many styles of architecture she would soon study in college — a career path influenced by her late grandfather, who was an architect.

“Berlin was one of my favorite cities with its history and mix of modern and historical buildings,” Ana Paula says. “It was an incredible trip.”

That she was able to travel and enjoy all Europe has to offer was especially sweet for Ana Paula. Less than a year earlier, the possibility of such an adventure seemed remote.

In 2016, Ana Paula was diagnosed with a nerve tumor that was impinging on her spine and her left kidney. Neurosurgeons in Mexico City told her that surgery to take it out may result in paralysis or neurologic deficits that could last for the rest of her life.

But a multidisciplinary team at Mayo Clinic was able to make a plan to successfully remove the tumor and put Ana Paula back on the path to a healthy future.

“Our goal was to get as much of the tumor out as possible while preserving her kidney and neurologic function,” says Mohamad Bydon, M.D., a Mayo Clinic neurosurgeon who was part of Ana Paula’s care team. “She has a long life ahead of her.”

Looking to a team of experts

An active teen who played soccer and was an avid skier, Ana Paula learned about the tumor, called a schwannoma, after an ultrasound and a CT scan in December 2016. Schwannomas grows along nerve roots. Over time, they can lead to nerve damage and loss of muscle control.

As Ana Paula’s pain was increasing due to the tumor and she faced the prospect of surgery, her primary care doctor recommended she go to Mayo Clinic’s Rochester campus for a consult. There she met with specialists in the departments of Neurology and Neurosurgery. Because of the tumor’s size and location, and due to her age, they recommended surgery to remove the tumor.


“Dr. Bydon was so professional, informative and empathetic. I liked that he gave me several surgical options and involved me in the decision-making.” — Ana Paula Wiechers


Although she was initially apprehensive about having surgery, Ana Paula felt confident moving forward with it after meeting Dr. Bydon.

“Dr. Bydon was so professional, informative and empathetic,” she says. “I liked that he gave me several surgical options and involved me in the decision-making.”

In addition to Dr. Bydon, Ana Paula’s team at Mayo Clinic included neurosurgeon Robert Spinner, M.D., neurologist Daniel Lachance, M.D., and vascular and endovascular surgeon Randall DeMartino, M.D.

“Over time, the tumor would have become more painful and debilitating and more difficult to remove safely,” says Dr. Bydon. “Its size and proximity to critical structures made it a complex surgery, which is why we put together a multidisciplinary team for the procedure.”


“The entire staff made this a much less difficult experience than I’d imagined it to be.” — Ana Paula Wiechers


The surgery was scheduled for March 6, 2017. During the procedure, Ana Paula’s surgeons removed the entire tumor, which was the size of an orange. Afterward, she stayed in the hospital for three days.

“Everyone was so nice. The nurses were so attentive with me,” Ana Paula says. “The entire staff made this a much less difficult experience than I’d imagined it to be.”

Since the surgery, Ana Paula has maintained full function in the left side of her body and has not had any problems with her kidney.

Focusing on the future

Now in her first semester at the Universidad Iberoamericana in Mexico City, Ana Paula is excited to put her medical odyssey behind her and begin her journey toward becoming an architect.

“Architecture has fascinated me since I was a child,” Ana Paula says. “Unlike other disciplines, it doesn’t have a lot of rules and enables you to fully express yourself creatively.”

And she’s already thinking ahead to what she will do with her new career.

“During my fifth semester, I’m planning on studying abroad. I’m really looking forward to living in another country,” she says. “Once I graduate, I’d like to design houses.”


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Thu, Jan 11 10:20am · Epilepsy Care Makes the World More Peaceful for a Painter

For years, seizures caused confusion and disorder in Kristin Taheri's daily life. She sought medical care to no avail. Then she turned to Mayo Clinic, where Kristin received the diagnosis she had been seeking, and her care team worked diligently to find a way to stop her seizures.

For years, seizures caused confusion and disorder in Kristin Taheri’s daily life. Then she turned to Mayo Clinic, where she received the diagnosis she had been seeking, and her care team worked diligently to stop her seizures.


They say a picture paints a thousand words. For Kristin Taheri painting pictures has been a way of channeling and processing the unexplained seizures she had for 13 years.  Those seizures went undiagnosed by multiple doctors. Some even told her she was imagining her symptoms.

Kristin’s passion for painting began when her two youngest daughters, then 3 and 4, wanted some watercolors one afternoon.

“They painted for 30 minutes,” Kristin says. “I painted for days.”

Kristin found that painting helped her cope with not finding the answers she was seeking to explain her mysterious symptoms.

“I quit using words to express much of what I was feeling after being told over and over again that there was nothing wrong with me and I was crazy,” Kristin says. “Painting was an outlet to express all those things and get them out of my system. I used it to turn my seizures into something positive.”

A medical turning point came when Kristin decided to seek care at Mayo Clinic. After a thorough investigation, her care team discovered Kristin had left temporal lobe epilepsy.

“It was so healing and validating to finally know what was wrong with me,” Kristin says. “I’d be told for eight years that I was making it up.”

A life disrupted

Kristin had gotten used to not being taken seriously when she shared experiences like getting lost on her way home from work, frequent déjà vu, and olfactory hallucinations, such as smelling sugar cookies and turkey. After working with multiple health care providers, her unexplained symptoms persisted, despite trying 13 different medications.

One night while she was on the phone with a friend, Kristin got up to go get something. When she didn’t come back to the phone, her friend called Kristin’s parents and asked them to go check on her.


“When [my parents] got to my house, I didn’t know who they were. I didn’t know who my kids were.” — Kristin Taheri


“When they got to my house, I didn’t know who they were,” Kristin says. “I didn’t know who my kids were.”

As a mother of four girls, Kristin found ways to work around her unnerving symptoms over the years. She continued to work as a paralegal in a law office, with some help from her employer.

“My boss set up a rest area for me and bought me a chaise,” she says. “Any time I felt a seizure coming on, I could go lie down.”

As her symptoms lingered on, however, it became clear working around them was not the answer.

A long-awaited diagnosis

In 2012, eight years after Kristin’s seizures began, Kristin’s best friend and her husband urged her to go to Mayo Clinic. She took that advice and met with William Tatum, D.O., an epilepsy specialist and director of the Epilepsy Center and Epilepsy Monitoring Unit at Mayo Clinic’s Florida campus. After having a seizure during a sleep study, Kristin finally received the diagnosis she had sought for so long.

Kristin Taheri found an outlet in painting to help her deal with her seizures.

“Dr. Tatum walked in the room and said, ‘We found it. We found it. You have left temporal lobe epilepsy,'” Kristin recalls.

Kristin then went through a series of tests, including high-resolution brain MRI, a positron emission tomography scan of the brain, neuropsychological testing, video- electroencephalogram monitoring and intracranial electroencephalogram evaluation.

Using information from those tests, in May 2013, Mayo Clinic neurosurgeon Robert Wharen, Jr. M.D., implanted grids, strips and depth electrodes on the surface of and within Kristin’s brain to determine where the seizures were coming from. Then, in an effort to get rid of her seizures, Dr. Wharen performed left temporal lobe surgery two weeks later.

When the seizures continued, Kristin underwent a second epilepsy monitoring unit evaluation. Kristin’s team surmised that the seizures were localized to the area behind the site of the previous surgery. Kristin underwent laser surgery in November 2014 to remove residual tissue from that part of her brain. But still the seizures persisted, and Kristin complained of worsening memory.

A dramatic turnaround

Dr. Tatum had been working closely on Kristin’s case with Alfredo Quinones-Hinojosa, M.D., chair of the Department of Neurosurgery. In January 2017, they decided to move forward with Kristin’s treatment by performing awake craniotomy with cortical mapping. That would let them directly observe what was happening in Kristin’s brain to guide their operation.

“She was awake during the craniotomy, so we could monitor the electrical activity of her brain and ensure we were not removing a part of her brain that would affect any of her function,” Dr. Quinones-Hinojosa says. “We removed the remaining area of her left temporal lobe, which was in an almost constant state of seizure.”

Following the surgery, Kristin’s memory improved and she has been virtually seizure-free, her quality of life improving dramatically.


“When you’re in the middle of all that, you don’t realize how much of you is missing. I had been in a fog for 12 or 13 years with hundreds of seizures.” — Kristin Taheri


“I remember the first day she could drive her daughter to school. It was such a beautiful moment and so powerful,” Dr. Quinones-Hinojosa says. “It made me realize that things that are routine for many of us can have tremendously deep implications in someone else’s life.”

Kristin is reminded of the changes she’s undergone every day.

“When you’re in the middle of all that, you don’t realize how much of you is missing. I had been in a fog for 12 or 13 years with hundreds of seizures,” Kristin says. “I can feel the difference in the way I respond and rationalize things, and most importantly, my daughters tell me they have their mama back.”

A new kind of creativity

Kristin continues to paint. She says her recent paintings are different because her brain is different.

“The brain has 160 trillion synapses — more than there are stars in the galaxy,” Dr. Quinones-Hinojosa says. “If you can grasp that, then you can try to begin understanding how creativity can be enhanced or evolve secondary to epilepsy. These neural pathways can give you abilities to appreciate color in a special way when creating an artistic piece.”

Painting continues to give Kristin a creative voice and a sense of calm.

“You can cry or laugh in your paintings and convey love or all kinds of things in them that you don’t feel open to convey,” Kristin says. “There’s nothing more peaceful than painting.”


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Mon, Jan 8 9:01am · Uncovering a Life-Saving Diagnosis for Paige

Pain made it impossible for Paige Whorton to run and play with her friends, and no one could tell her why. Then a team at Mayo Clinic took a closer look and found a rare genetic disorder. That diagnosis has given Paige and her family renewed hope for the 12-year-old's future.

Pain made it impossible for Paige Whorton to run and play with her friends, and no one could tell her why. Then a team at Mayo Clinic took a closer look and found a rare genetic disorder. That diagnosis has given Paige and her family renewed hope for the 12-year-old’s future.


Paige Whorton’s zeal for life is infectious. “I like parasailing, exploring and zip lining — daredevil stuff,” she says.

Pain in her joints, however, was slowing the 12-year-old down.

“I couldn’t do anything fun with friends,” Paige says. “My bones and joints would hurt when I would run.”

Over several years, Paige’s condition deteriorated. In constant pain, she had to complete the second half of sixth grade at home. But no one could give her any clues about what was happening.

“Each specialist would say, ‘This is not our division … You’ll need to go somewhere else,'” says Paige’s mother, Belinda Whorton. “But we couldn’t get put on to the right place.”

That’s when Paige and her family turned to Mayo Clinic. Her care team, led by geneticist Brendan Lanpher, M.D., conducted a comprehensive evaluation of Paige’s condition. Using careful testing and analysis, they uncovered a rare genetic disorder that, if it wasn’t treated properly, could eventually become life-threatening. That clear diagnosis paved the way for Paige to receive the treatment she needs.

A complicated puzzle

When Paige arrived at Mayo Clinic’s Rochester campus, Dr. Lanpher began working to find answers for her. He suspected lysosomal storage diseases, a group of rare inherited disorders in which enzymes don’t properly break down complex molecules. That can lead to damage to bone, the heart and other tissues.

“She had a number of symptoms that were all subtle but suggested a pattern that pointed to metabolic storage disorder,” Dr. Lanpher says. “Left untreated, these diseases can cause premature death.”

Dr. Lanpher’s team worked quickly and collaboratively to investigate. Results of the first test they recommended for Paige, a urine test, were just slightly outside the normal range. This had been the point where other providers stopped and sent Paige home.

“Because all her symptoms fit the profile of lysosomal storage disease, it made sense to keep testing,” says Erin Conboy, M.D., a biochemical genetics fellow. “We moved on to whole exome DNA testing, which examines all the disease-causing genes.”


“It was clear that we needed to look deeper within the gene to find the second mutation.” — Filippo Pinto e Vairo, M.D., Ph.D.


To confirm the disease, Paige’s DNA needed to show two copies of a genetic mutation. The results showed only one. The team wasn’t ready to leave it at that. A group from Mayo Clinic’s Department of Clinical Genomics within the Center for Individualized Medicine dug deeper into research for an answer.

“We rely on computers to help us find genetic alterations. It was clear that we needed to look deeper within the gene to find the second mutation,” says Filippo Pinto e Vairo, M.D., Ph.D., a Mayo Clinic research fellow. “To do that, we expanded the computer analysis to a little-known area outside the defined region.”

That approach worked. “We finally found it in a region that the computer analysis typically does not cover,” Dr. Pinto e Vairo says.

A solution revealed

Discovering that genetic mutation confirmed Paige’s diagnosis: mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, a rare form of lysosomal storage disease.

One final step stood between Paige and treatment. The team needed a biochemistry test to prove Paige’s enzymes weren’t working and that she needed enzyme-replacement therapy. Surprisingly, the test showed Paige’s enzymes were normal. But her team didn’t stop there.

“We were convinced we had the right diagnosis,” Dr. Conboy says. “We knew there was a flaw in that test, so we sent it to a different lab.”


“This was a complex case that no single one of us could have solved on our own.” — Brendan Lanpher, M.D.


The test was run for a second time, and this time it showed Paige’s enzymes weren’t working. The diagnosis her Mayo Clinic team had landed on was correct.

To stop the disease from progressing, Paige now receives weekly enzyme-replacement therapy. She’ll continue with that treatment, which has allowed her to go back to school, for the rest of her life — a life that might have otherwise ended too soon.

“I’m so proud of my team. I am confident this diagnosis would have been missed just about anywhere else,” Dr. Lanpher says. “This was a complex case that no single one of us could have solved on our own.”

Learn more about Paige’s story in the video below.

 

 


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Fri, Jan 5 8:00am · Genetic Testing Sets a Course for Successful Cancer Treatment

Michele Sabados' care team at Mayo Clinic worked together to craft an individualized care plan to treat her advanced breast cancer. It paid off. Today, Michele's cancer is gone.

Michele Sabados’ care team at Mayo Clinic worked together to craft an individualized care plan to treat her advanced breast cancer. It paid off. Today, Michele’s cancer is gone.


Michele Sabados beams when she announces she is cancer-free, convinced she will see her children graduate from college and get married — and that she will grow old with her husband.

Her optimism was not so apparent when her world was rocked 10 years ago by a diagnosis of stage 3 breast cancer. She underwent a mastectomy and a course of chemotherapy. Then, 2½ years later, Michele was hit with a second shattering diagnosis. The cancer, by then stage 4, had spread to her lung. She was not prepared to be told that she perhaps had only two years to live.

Michele wasn’t willing to take that prediction as the final word on her future. A comprehensive search for second opinions brought her to a care team at Mayo Clinic that created a treatment plan to put her cancer in remission.

“What used to be a uniformly fatal disease is now treatable,” says Dawn Jaroszewski, M.D., a Mayo Clinic cardiothoracic surgeon. “It’s not 100 percent. Not everyone is cured. But many patients are, and the better we get with diagnoses and chemo, and other things, the more people are surviving this and beating cancer.”

But the road to that positive outcome wasn’t an easy one for Michele.

Exploring alternatives

After her she found out the breast cancer had spread to her lung, Michele says she allowed herself half an hour of crying with her husband in the oncologist’s office.

“Then I gathered up all my medical records and went on a tour of half of the country to get second opinions,” she says. “I wasn’t going to accept that diagnosis. My children were young.”

Her journey to explore second opinions was educational, Michele says. She visited various medical centers in the western part of the U.S. After numerous meetings, she decided to seek care at Mayo Clinic. Doctors advised her to see a breast oncologist. That piece of advice led Michele to Donald Northfelt, M.D., a medical oncologist at Mayo Clinic’s Arizona campus.

Dr. Northfelt says he was not surprised at Michele’s resolve to reject her original diagnosis, noting he is “happy with patients who want to take charge of their health care and to go on and find other options. She’s that kind of person.”

Michele engaged in a candid exchange with Dr. Northfelt about how to move forward, including a discussion about genetic testing. They agreed the cancer would first be carefully removed from Michele’s lung. The cancer tissue would then be sent for genomic profiling analysis to help identify the best course of treatment to prevent the cancer from coming back again.

Delivering personalized treatment

Dr. Northfelt knew Michele would need a highly skilled surgeon for their plan to succeed. He recommended Dr. Jaroszewski to remove the cancer in Michele’s left lung.

Dr. Jaroszewski explains that because of her specialty in treating cancers in the chest, she was able to remove Michele’s lesion in her lung. She was witness as well to Michele’s determination to take control of her destiny as best she could.

“She had a wonderful attitude,” says Dr. Jaroszewski, recalling that Michele insisted, “‘I don’t have time to die. I have a family to take care of. I’ve got things to do.'”


“Michele underwent a course of specifically targeted chemotherapy and biologic therapy. At the time, this was a somewhat controversial approach that was under study at Mayo Clinic and elsewhere.” — Donald Northfelt, M.D.


When the lung surgery was complete, Michele’s team worked together to follow through on the next planned steps.

“A genomic analysis was performed on the breast cancer deposit resected from her lung, and her treatment plan was formulated based on that analysis,” Dr. Northfelt says. “As a result of that analysis, Michele underwent a course of specifically targeted chemotherapy and biologic therapy. At the time, this was a somewhat controversial approach that was under study at Mayo Clinic and elsewhere. However, in the ensuing years, this has become a standard approach, and additional research to refine these methods continues at Mayo Clinic.”

“I was adamant about wanting that genomic testing, and Dr. Northfelt was willing to do that,” Michele says. “I believe that because of him, I am here today.”

Benefitting from the team approach

Michele praises her Mayo caregivers, especially the way Dr. Northfelt “partnered with me and how he listened and felt my conviction,” she says. In turn, Dr. Northfelt credits Michele’s resiliency and drive for contributing to her success.

“She’s a courageous person and took this on, and never looked back,” he says.

Acknowledging that Mayo Clinic enjoys a reputation for excellent care, Dr. Northfelt says Mayo’s team approach was of great benefit to Michele.

“As a team, we carefully deliberated over Michele’s situation, thinking about the options for her care,” he says. “We decided to take an aggressive approach to her cancer, removing the lung tumor and then administering the chemotherapy.”


“At the end of the day, the nurses make the most difference. They are right there with the patient at every step of their process of care.” — Donald Northfelt, M.D.


An integral part of that team is the nurses who care for patients like Michele.

“At the end of the day, the nurses make the most difference,” Dr. Northfelt says. “They are right there with the patient at every step of their process of care. It’s the nurses who deliver the care we are recommending.”

The results of the treatment plan the team developed for Michele turned out to be exactly what they all had hoped for.

“Michele is one of a population that is basically treated and cured with chemotherapy and resection, and those are the wonderful advancements that have happened in medicine,” Dr. Jaroszewski says.

Back home in Boise, Idaho, Michele and her family members are enjoying her return to good health and have committed to maintaining a healthy lifestyle by eating well and exercising.

“Nobody’s perfect,” Michele says. “But I do try to be very conscientious of what I eat and how I live.”

Michele returns to Mayo Clinic each year for a medical review with Dr. Northfelt. Now she is more than seven years cancer-free. That’s something she takes pride in. “I’ve been told I am one in a million,” Michele says.


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Wed, Jan 3 8:00am · Resiliency and Determination Propel a Researcher's Discoveries

Mayo Clinic researcher John Fryer, Ph.D., is hopeful the work in his laboratory will yield insights into Alzheimer's disease, as well as sepsis — an often-deadly condition which claimed his father's life in 2016.

Mayo Clinic researcher John Fryer, Ph.D., is hopeful the work in his laboratory will yield insights into Alzheimer’s disease, as well as sepsis — an often-deadly condition which claimed his father’s life in 2016.


When he received a text message from his mother in Arizona telling him that his father had been diagnosed with sepsis, John Fryer, Ph.D., knew he had to move quickly.

Sepsis, a runaway inflammation response to infection, can be deadly. It strikes more than 1 million Americans every year, killing between 28 and 50 percent of those affected, according to the National Institutes of Health.

Dr. Fryer received the message about his father in October 2016. It came less than 48 hours after Dr. Fryer’s laboratory at Mayo Clinic learned that its greatest discovery — about sepsis, no less — would be published in Molecular Psychiatry, one of the world’s leading research journals. The afterglow from that achievement would disappear quickly.

“As soon as I saw the message, I called my wife, and within two hours, I was on a flight to Arizona,” Dr. Fryer says.

By the time Dr. Fryer arrived in Arizona, the inflammatory response was unstoppable. His father, Ron Fryer, who was also battling end-stage renal disease, was receiving palliative care to make him as comfortable as possible. Over the next few hours, with Dr. Fryer in the hospital room, Ron Fryer slipped into unconsciousness. He died less than 48 hours later.

“I couldn’t stop being a scientist and wishing I had been further along in my research because, maybe, it could have helped my father,” Dr. Fryer says. “At the same time, I was glad I knew about sepsis and recognized that I had to leave immediately when I received my mother’s message. That was very fortunate, because I got to see my dad and have a conversation with him before he lost consciousness.”

An intriguing link

Dr. Fryer’s ability to focus on the positive within the whirlwind of events that surrounded his father’s death reflects a resiliency that has served him well.

“You have to be malleable — willing to adjust — if you want to have a successful research career,” he says.

Dr. Fryer is a neuroscientist at Mayo Clinic’s Florida campus whose primary focus is Alzheimer’s disease. He began studying sepsis because people who survive sepsis often have a period of delirium, and they have significantly greater risk of cognitive impairment and dementia.

Dr. Fryer and his team had their resolve tested before their sepsis discovery. At an early point in the research, they reluctantly decided to put the project on hold due to lack of funding.


“It’s the most important discovery I’ve made since I started my lab in 2011, and it wouldn’t have happened without the Gilmers.” — John Fryer, Ph.D.


“I told the team we had to put the project on pause. I didn’t want to say ‘stop,’ so I just said ‘pause,'” says Dr. Fryer, who is also assistant dean of Mayo Clinic Graduate School of Biomedical Sciences. “Everyone was surprised, and their shoulders just slumped. It was still bothering me when I got home.”

A few days later, everything changed when Dr. Fryer’s lab received a gift from Gary and Marilyn Gilmer, who are members of Mayo Clinic’s Florida Leadership Council and recognized as major benefactors.

A crucial discovery

With the Gilmers’ funding, Dr. Fryer’s team renewed its efforts and discovered that a protein called lipocalin-2, or LCN2, may serve as a doorway for creating the first strategies to protect people from the cognitive effects of sepsis. The protein also may be useful for diagnosing sepsis earlier, which is essential to reduce the number of lives it claims.

“It’s the most important discovery I’ve made since I started my lab in 2011, and it wouldn’t have happened without the Gilmers,” Dr. Fryer says. “We think we may be able to target LCN2, either directly or indirectly, to reduce inflammation during sepsis and protect the brain. We also think measuring LCN2 levels may be helpful for determining if a patient is developing sepsis.”

For the Gilmers, the discovery had a double impact.

“We seized the opportunity to support Dr. Fryer’s research because our family has firsthand experience with the devastating effects of dementia,” Gary Gilmer says. “Little did we realize that he and his team would so quickly make a discovery that has potential for improving the treatment of two terrible conditions.”

A connection to patient care

The next steps for Dr. Fryer and his team are to screen drugs that may work with LCN2 to protect the brain from sepsis and similar syndromes. They are already screening thousands of drugs that have approval from the Food and Drug Administration and are part of the National Institutes of Health’s Clinical Collection. The team is also focused on better understanding the mechanisms that may connect sepsis with cognitive impairment and dementia.

At the same time, Dr. Fryer’s team is working with clinical colleagues to develop other strategies to improve sepsis care. Mayo Clinic has a sepsis response team that defines best practices for preventing and treating sepsis in hospitalized patients. Dr. Fryer’s laboratory is working with them to create new ways to identify sepsis earlier.


“The good news is that Mayo Clinic is the best place to take all of these next steps.” — John Fryer, Ph.D.


For example, he thinks it may be possible to use genomic technologies to identify pathogens earlier and start a patient on antibiotics sooner. Dr. Fryer developed additional expertise in genomics through a Gerstner Family Career Development Award. This grant, created through philanthropy from the Gerstner Family Foundation, is awarded through the Mayo Clinic Center for Individualized Medicine. It gives seed funding to young investigators who are pursuing genomic approaches to improve prediction, prevention and treatment of diseases.

“The good news is that Mayo Clinic is the best place to take all of these next steps,” Dr. Fryer says. “Collaborating with physicians and pushing the boundaries of translational science is our greatest strength, and that’s where this research is headed. In fact, we’ve already started.”


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