Sharing Mayo Clinic

Stories from patients, family, friends and Mayo Clinic staff

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14 hours ago · Collaborative Approach to Care Restores Conductor's Sight

When doctors in Ohio told Robyn Lana they weren't sure whether a brain aneurysm they found behind her right eye socket was causing the vision problems she'd been experiencing, Robyn turned to Mayo Clinic. Not only did her Mayo care team identify the true cause of her vision loss, they fixed it.

When doctors in Ohio told Robyn Lana they weren’t sure whether a brain aneurysm they found behind her right eye socket was causing the vision problems she’d been experiencing, Robyn turned to Mayo Clinic. Not only did her Mayo care team identify the true cause of her vision loss, they fixed it.




In
November 2018, Robyn Lana was faced with a
serious and frightening problem. “I started losing the vision in my left
eye rather suddenly,” she says. “It
came out of nowhere.”

Robyn’s
failing vision affected all aspects of her life, including her work as founder,
managing artistic director and conductor of the Cincinnati Youth Choir. “I
travel around the country working with children’s
and other youth choirs, so my symptoms were really troubling,” she says. “I
couldn’t drive myself to rehearsals, and had to cancel concerts and other
out-of-state conducting gigs because my vision kept getting worse.”

After testing by local care providers revealed Robyn had developed a brain aneurysm behind her right eye socket, she was hopeful that the cause of her vision problem had been identified and could be treated. Her medical providers, however, weren’t so sure.

“They
weren’t convinced the aneurysm had anything to do with my vision loss, so they
left it alone and told me not to worry about it,” she says. But Robyn did
worry. “It just wasn’t a comfortable situation for me, so that’s when I started doing my own research.”

That research led Robyn to Mayo Clinic’s Sharing Mayo Clinic blog, where she found the story of Judy Henderson. Judy also had dealt with vision problems, and they were found to be the result of a brain aneurysm that was successfully treated at Mayo Clinic by neurosurgeon Giuseppe Lanzino, M.D.

After
reading her story, Robyn contacted Judy. “I reached out and asked her
opinion of Dr. Lanzino,” Robyn says. “She said: ‘He’s the best. He’s
wonderful. You have to go see him.'”

Robyn took that advice, scheduling an appointment with Dr. Lanzino at Mayo Clinic in Rochester as soon as she could. The appointment took place just as her vision was beginning to free fall.

“Dr.
Lanzino saw me for the first time on Dec. 26, 2018,” Robyn says. “By
that time, my vision had rapidly declined to the point where I’d become legally
blind in my left eye. The vision in my right eye was also starting to decline.”

Double trouble

Imaging tests at Mayo Clinic revealed the underlying reason for Robyn’s deteriorating sight. “The first day I met with Dr. Lanzino, he ordered an MRI and a magnetic resonance angiography. That’s when he found a second smaller brain aneurysm behind my left eye socket, as well,” Robyn says. “The two aneurysms were touching each other.”

But
the investigation wasn’t over. Dr. Lanzino had to pinpoint which of the two aneurysms
was primarily responsible for Robyn’s vision loss and, thus, which one took
priority. For help with making that decision, he brought in Harry Cloft M.D., Ph.D.,
a neuroradiologist and Tariq
Bhatti, M.D.
, a surgical ophthalmologist.

“There’s always some risk when you take on a case like this that the patient’s vision could get worse. That was our primary concern.”

Harry Cloft M.D., Ph.D.

“We
each bring different things to the table,” Dr. Cloft says. “I’m a
radiologist, so I’m more imaging-focused. What I saw on Robyn’s imaging was
that the aneurysm behind her right eye socket was bigger and was pushing on her
optic chiasm, which is where the optic nerves meet. So we thought that one was
probably causing the most trouble. Also, the one behind her left eye socket has
an artery that comes out of it and goes to her left eye, so we had some
concerns that treating the left one could actually make her vision worse.
Ultimately, we decided the best way for us to improve her vision was to attack
the aneurysm above her right eye while leaving the one on the left alone for
now.”

Dr.
Bhatti agreed. “Multiple discussions had us thinking the aneurysm behind
her right eye socket and possibly the inflammation around it was what was
causing her vision loss, and that we should go ahead and treat the larger of
the two aneurysms,” he says.

It
was a decision the doctors did not take lightly. “There’s always some risk
when you take on a case like this that the patient’s vision could get worse. That
was our primary concern,” Dr. Cloft says. “We were kind of between a
rock and a hard place because if we didn’t do anything, her vision was almost
certainly going to continue to get worse. We had to do something to try and
stop that from happening.”

Plan of attack

The
physicians decided to place a device, called a flow diverter, across the
aneurysm on the right to redirect blood flow away from the aneurysm, causing it
to shrink over time. There was a potential catch, however.

“As
the aneurysm fills up with the blood clot that closes it off from the rest of
the body after placement of the flow diverter, it might begin to swell before
it starts to shrink,” Dr. Lanzino says. “If you have swelling in a
patient who’s already having symptoms because of compression that the aneurysm
is causing, that could become dangerous.”

After
Robyn returned home to Ohio following her flow diverter procedure, the aneurysm
not only began to swell, but it also began to cause additional vision loss and
additional worry along the way. That’s when the role of Amy Theiler, a Mayo
Clinic physician assistant on Robyn’s care team, came front and center. “Amy
specializes in treating patients with brain aneurysms, so her involvement in
Robyn’s care became critical,” Dr. Lanzino says.

“I’m a walking miracle. I truly believe that. Since coming to Mayo Clinic, the vision in my left eye has been 100% restored.”

Robyn Lana

Robyn
and Amy talked by phone, and they were able to identify what was going on with
the aneurysm. With Amy’s input, the team decided to prescribe steroids to reduce
Robyn’s swelling and minimize the damage, while helping her through the initial
stage of healing. Eventually, the aneurysm began to shrink and her vision
started to improve.

“I’m
a walking miracle. I truly believe that. Since coming to Mayo Clinic, the
vision in my left eye has been 100% restored,” Robyn says. The only
residual vision loss I’ve suffered in my right eye has been very slight, but
that should continue to improve with time, as well.”

Culture of collaboration

With
her vision on the mend, Robyn has returned to doing what she loves. “It’s
such a blessing to have my career back,” she says. “I get so much joy
out of changing the lives of young people through music. To be able to do that
again, and have the energy and vision to go along with it, is amazing. I can’t
put into words how wonderful it is to have been in all of my doctors’ care and to be where I am now.”

“It was huge for us to have all the specialists we needed under one roof.”

Giuseppe Lanzino, M.D.

Her
Mayo physicians agree that Robyn’s outcome would not have been possible without
Mayo Clinic’s culture of collaboration. “Robyn’s story is not so much
about the flow diversion procedure itself, but more about the strategy that was
involved in her treatment,” Dr. Lanzino says. “Knowing and
understanding what the best course of treatment was for her and how to do it
was paramount. It was huge for us to have all the specialists we needed under
one roof.”

Dr.
Bhatti echoes that sentiment. “The fact that Dr. Lanzino and I could
discuss Robyn’s case while she was sitting right there in my office was huge. We
did that several times throughout the course of her care,” he says. “We’re
fortunate here at Mayo Clinic to have the sort of team-based approach to care
that we do.”

Thanks
to that teamwork, Robyn has been able to get back to her life and her work
without the fear of losing her vision. “Before my procedure, I told Dr.
Lanzino that my goal was to be able to see well enough to still conduct a
festival that I had coming up at Carnegie Hall, and I was able to do that,”
Robyn says. “Everyone at Mayo Clinic is so outstanding. My entire patient
experience has been amazing.”


HELPFUL LINKS


2 days ago · Bariatric Surgery Opens the Door to New Adventures

Difficulty with her weight and the medical problems that it caused kept Kathy Schmidt homebound and isolated. But now after bariatric surgery, Kathy is happily joining in on the fun again.

Difficulty with her weight and the medical problems that it caused kept Kathy Schmidt homebound and isolated. But now after bariatric surgery, Kathy is happily joining in on the fun again.




Kathy
Schmidt had become a recluse. Her multiple health issues and concerns about her
weight led her to stay home more and more often. “I didn’t want to leave
the house,” says the 58-year-old Eau Claire, Wisconsin, resident. “I
didn’t want to go to family gatherings. I wasn’t participating in life.”

Kathy
had struggled with her weight for years and tried many weight-loss programs.
“I’m not exaggerating when I said I joined one program six times,”
she says.

Over time, Kathy began to experience serious medical problems related to her weight, including numbness in her thighs, pain in her knees and lower back, plantar fasciitis in her feet and a racing heartbeat.

“Our program provides each patient with proven, medically based solutions to regain hope and health.”

Chris Hower, M.D.

The last straw for Kathy was when she was diagnosed with sleep apnea. “It just bothered me,” Kathy says. “I didn’t want to wear the CPAP mask for the rest of my life, and my sleep doctor mentioned that losing weight could help. I had tried so many different programs before, and I felt like bariatric surgery was my final hope.”

Kathy enrolled in the Bariatric Surgery Program at Mayo Clinic Health System in Eau Claire. During the six-month presurgery program, patients like Kathy meet with a surgeon, registered dietitians, counselors, exercise specialists and other medical experts to ensure they are prepared for the lifestyle changes necessary to ensure long-term weight-loss success.

“Our
program provides each patient with proven, medically based solutions to regain
hope and health,” explains Chris
Hower, M.D.
, a Mayo Clinic Health System general and bariatric surgeon. “It
is designed to do more than reduce the weight of patients’ bodies. We help them
reinvent themselves by focusing on each patient’s unique emotional, physical,
nutritional and educational needs.”

Kathy
appreciated that approach. “Everyone was so nice, and the program was
wonderful,” she says. “I was surprised how much I enjoyed the support
groups. I looked forward to going, and it was probably my favorite part of the
program.”

Dr.
Hower says Kathy was a good candidate for bariatric surgery because she met
the National Institutes of Health requirements
of having body mass index of 40 or greater, or 35 with obesity-related medical
conditions, such as sleep apnea. Also, she was motivated to make the necessary
lifestyle changes.

Dr. Hower performed Kathy’s Roux-en-Y gastric bypass in February 2018. A minimally invasive laparoscopic procedure, it includes creating a small pouch in the stomach and connecting it directly to the small intestine. People who have this surgery feel full more quickly and absorb fewer calories because food bypasses part of the small intestine.

“I feel awesome. I’m even more active than I ever was before.”

Kathy Schmidt

About
20 months after surgery, Kathy says she has lost about 70 pounds and all of her
previous health concerns have gone away, including the sleep apnea. “I
feel awesome,” she says.

She’s
also back to being an enthusiastic participant in her own life. “I’m even
more active than I ever was before,” she says. “At least five days a
week, I ride my bike 8 to 10 miles in the morning. When I first started, it took
me 57 minutes to finish. Now I’m down to 37 minutes.”

Kathy
also is trying new adventures. In June 2019, she and her sisters took a trip to
Colorado and tried whitewater rafting for the first time.

“Before
the surgery, I would have stayed on the sidelines and said, ‘Have fun,'”
she says. “But I was able to get right in there and participate. It was
amazing. I was scared, but it was so exhilarating. I was so proud of myself,
and we didn’t even tip over.”

Note: A version of this story previously was
published in
Hometown Health.


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4 days ago · Mayo Teamwork Puts Basketball Standout Back in the Game

Katie Stone never had an injury in all her years as a competitive athlete. Then she tore her ACL during an alumni basketball game. But now, thanks to reconstructive surgery and physical therapy, Katie's healthy and active once again.

Katie Stone never had an injury in all her years as a competitive athlete. Then she tore her ACL during an alumni basketball game. But now, thanks to reconstructive surgery and physical therapy, Katie’s healthy and active once again.




In
all her years as a competitive athlete, Katie Stone never had an injury. Not
during her four years at Regis High School in Eau Claire, Wisconsin, where she
was a member of the basketball team that took the state championship in 2011.
Not during her college career at the University of St. Thomas in St. Paul,
Minnesota, where she holds the record for most three-point shots made in a
season.

Katie’s
injury-free streak came to an end, however, a few months after she graduated
from college when she hurt her knee during an alumni basketball game at St.
Thomas. “At first, I thought I could just walk it off,” she says.

“(Dr. Israel) was great. He was very supportive and told me everything he was going to do.”

Katie Stone

A week after the game, the knee was still painful and swollen, and Katie was walking with a limp. An MRI revealed that she had torn her ACL and needed surgery to repair it. Then living in the Twin Cities, Katie returned to Eau Claire for surgery. T. Andrew Israel, M.D., an orthopedic surgeon at Mayo Clinic Health System in Eau Claire performed the procedure in February 2017.

“I
know a lot of people in the Eau Claire area who have had knee surgery, and they
all recommended Dr. Israel,” Katie says. “He was great. He was very
supportive and told me everything he was going to do.”

Katie began physical therapy in Eau Claire immediately after surgery. When she returned to the Twin Cities, her therapy sessions continued with Sports Medicine at Mayo Clinic Square in Minneapolis.

“It took me a full year to recover, but I’m back to living a very active life.”

Katie Stone

Katie
says it was a smooth transition. “They (the physical therapy staff in
Eau Claire) were super helpful in bringing the Minneapolis staff up to speed on
my recovery,” says Katie, who enjoyed rehabbing in the same facility where
the Minnesota Lynx and Minnesota Timberwolves receive treatment. Mayo Clinic
Sports Medicine provides medical care to both teams, whose practice courts are
at Mayo Clinic Square.

At
first, Katie worried her injury could sideline her permanently. “My
biggest concern in the beginning was whether or not I’d be able to be active
again,” she says. “I’d never experienced that kind of setback and was
scared of what it meant for my future.”

But
with the support and encouragement of her Mayo care team, coupled with her own
hard work, Katie’s been able to return to the lifestyle that she loves.

“It
took me a full year to recover, but I’m back to living a very active life,”
she says. That includes playing recreational basketball, joining a summer
tennis league and running her first half-marathon. “Now I feel great.”

Note: A version of this story
originally was published in
Hometown
Health
.


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Fri, Feb 14 5:00am · Palliative Care Helps Cancer Survivor Put an End to Severe Nausea

After eight months of unrelenting nausea, David Dean was miserable and nothing seemed to help. Then a Mayo Clinic palliative care specialist took another look and recommended a new medication. That eliminated the nausea and enabled the former triathlete to once again exercise, travel and do the things that make his life full.

After eight months of unrelenting nausea, David Dean was miserable and nothing seemed to help. Then a Mayo Clinic palliative care specialist took another look and recommended a new medication. That eliminated the nausea and enabled the former triathlete to once again exercise, travel and do the things that make his life full.




After chemotherapy and two surgeries to remove his left lung to treat lung cancer that had been diagnosed in 2017, David Dean was cancer-free with a new lease on life.

But following his second surgery in July 2018, David, a
retired college professor, began
experiencing severe and
persistent nausea. The man who had run 75,000 miles and biked 50,000
miles — a distance that included cycling four times from coast to coast — couldn’t enjoy the second chance he’d been
given.

“I had nausea 24/7, and
nothing would stop it. I was very depressed,” David says. “Along with
the nausea, I coughed all the time. I couldn’t eat, and my weight dropped 20
pounds. I looked like a human scarecrow.”

David started taking an antidepressant, and his Mayo Clinic oncologist, Rami Manochakian, M.D., prescribed anti-nausea medications. David also was evaluated in Gastroenterology and Hepatology, Otorhinolaryngology and Neurology at Mayo Clinic in Florida. But he couldn’t shake the nausea, and it began dragging down his outlook on life overall.

“For 75 years, I felt
wonderful,” David says. “I didn’t see any point in hanging around
much longer if I felt this way.”

David’s persistent nausea, and the
accompanying depression, also took a toll on his wife of 38 years and their
family. Due to his condition, David was unable to travel to visit his three
children and six grandchildren, and he couldn’t participate in the family’s
Thanksgiving celebration.

New sense of hope

Then David was referred to Maisha Robinson, M.D., a Mayo Clinic neurologist and palliative care specialist, who says that despite an extensive evaluation, there was no obvious cause for David’s persistent nausea. After a consult in March 2019, Dr. Robinson started David on a new anti-nausea medication that had a different mechanism of action than the others he had tried.

After that visit, David felt more optimistic. “You
can tell when you walk in how much Dr. Robinson loves her job,” he says.
“She was very professional and very empathetic. She wanted to know how I
felt.”

Along with being in better spirits
after his consult with Dr. Robinson, David’s symptoms also began to lift. “Within
48 hours of taking the medicine, my nausea was gone,” he says. “The
cough went away, too.”

“You can tell when you walk in how much Dr. Robinson loves her job. She was very professional and very empathetic.”

David Dean

The purpose of palliative care is to improve quality of life for people who have
serious or advanced medical conditions. “The psychological hold that
severe illness can take on people is underestimated,” Dr. Robinson says. “Even
when people have overcome their medical condition, they may still have
depression, nausea, pain or anxiety, which can benefit from palliative care.”

David’s situation was well-suited for the care Dr. Robinson offers. “He
told me, ‘For the first time when I left your office, I had hope things would
get better,'” Dr. Robinson recalls. “When he said that, I thought, ‘That’s
what I want to provide to people.'”

Better quality of life

During a follow-up appointment two months later, David told Dr.
Robinson that his appetite had markedly improved. He had gained weight, and he was
able to be more active, walking 3 miles a day.

“Most importantly, his mood was significantly better, and we were
able to lower the dose of his antidepressant medication,” Dr. Robinson
says.

“The work I do gives me so much satisfaction. … The core of what we do is to make the lives of people better.”

Maisha Robinson, M.D.

With the improvement in his
symptoms, David was excited to go on the annual trip to Ixtapa, Mexico, that he
and his wife have taken for the last 20 years, with the exception of 2018 when
he was feeling so horrible. “We get up in the morning and walk on the
beach. We sit on the deck and look at the ocean,” David says. “Being
here makes me and my wife very happy.”

That’s just the type of outcome Dr. Robinson is aiming for in her work.
Her experiences caring for people with serious and often devastating neurologic
disease during her neurology residency helped her see that palliative care was
her calling.

“The work I do gives me so much satisfaction. We’re working in
partnership with people’s primary doctors in managing the whole person,”
Dr. Robinson says. “The core of what we do is to make the lives of people
better. To know the care I gave Mr. Dean greatly impacted his quality of life
gives me so much joy.”


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Wed, Feb 12 5:00am · Fresh Approach to Epilepsy Treatment Rekindles Zest for Life

Janice Breien was anxious to find a better way to manage the seizures that regularly disrupted her daily life. Enter her Mayo care team — ready to listen and provide solutions. Now, with her seizures under control, Janice has a renewed sense of optimism.

Janice Breien was anxious to find a better way to manage the seizures that regularly disrupted her daily life. Enter her Mayo care team — ready to listen and provide solutions. Now, with her seizures under control, Janice has a renewed sense of optimism.




“I went through years of not being able to do anything,” says Janice Breien, a 61-year-old Menomonie, Wisconsin, resident. “I was put on permanent disability because of my uncontrollable epilepsy. I couldn’t even volunteer.”

Janice had seizures off and on throughout her life. Then, after being injured in a motorcycle accident, she started experiencing grand mal seizures.

“When I hit about 43, they came on and they stayed,”
Janice says. She could no longer engage in her occupation as a goldsmith. It
was too dangerous to work with welders, hot metals and fire. Janice’s daughter,
then in her early teens, was in charge of calling 911 during Janice’s seizures.

A winding path

Janice, who was living in Milwaukee at that time, says she felt
that she was taking far too many medications and did not like their side
effects. “I told my doctors I could not take them because of what they
were doing to my brain,” Janice says. “They told me it was impossible
(to get off of those medications).”

Janice also was dealing with a variety of other health concerns, including post-traumatic stress disorder, fibromyalgia, osteoporosis and osteoarthritis.

In an attempt to decrease the frequency of her seizures, Janice had a vagus nerve stimulator implanted. The device, which sends electrical impulses to the vagus nerve, may be used to ease seizures that aren’t adequately controlled with medications. The stimulator reduced Janice’s larger seizures, but she still had frequent small ones.

“I couldn’t live like this anymore. I knew there was something wrong.”

Janice Breien

As the seizures continued, Janice worried about the long-term effects of the anti-seizure medications that she was taking. Then she was diagnosed with epilepsy-related dementia. Constant fear consumed her, and she was afraid to leave her house.

Janice says she was so miserable that she considered ending her
life. “I couldn’t live like this anymore,” Janice says. “I knew
there was something wrong.”

A new direction

When Janice moved from Milwaukee to Menomonie, she connected with Scott Spritzer, D.O., in Neurology at Mayo Clinic Health System in Eau Claire, Wisconsin. She was relieved by Dr. Spritzer’s approach to her care and his understanding of her desire to get off the medications she was taking.

“He said, ‘I’m starting from scratch,'” Janice says. “He
listened to me. He’s just the most wonderful, gentle doctor.”

Dr. Spritzer recognized that some of the seizure events Janice was experiencing may not have been related to her epilepsy. He scheduled Janice for evaluation in Mayo Clinic Health System’s Epilepsy Monitoring Unit. There her care team was able to observe her seizures and view her brain activity via an electroencephalogram — a test that detects electrical activity in the brain using small metal discs, called electrodes, attached to the scalp.

Comparing the results of her unusual events over the course of
three days, it was apparent that some of Janice’s episodes were not epileptic
seizures. Those events, which appeared to be triggered by stress, would require
a different treatment.

“(Dr. Spritzer) listened to me. He’s just the most wonderful, gentle doctor.”

Janice Breien

“Since Janice elected to stay off medications, I referred
her to begin talk therapy for her nonepileptic events,” Dr. Spritzer says.

Janice says that she was amazed at how quickly Holly McAbee, her Mayo psychotherapist,
was able to help her. McAbee taught Janice to recognize her nonepileptic events
by what she was feeling. She explained what was happening in Janice’s brain
during these events and how Janice could control them with techniques such as
visualization and breathing.

“With Holly’s help, I can recognize the two and control the
emotional — stress seizures, I call them — that are brought on by my mind, my
memories,” Janice says.

A dramatic turnaround

Today, Janice estimates that her quality of life has improved
75%. “I am singing. I am smiling,” she says. “I enjoy life.”

Dr. Spritzer credits that remarkable change to Janice’s dedication
to her therapy. He says it also was key that Janice shared all the details of
her symptoms with her care team. That allowed them to see the full picture and
offer her the best treatment. “I think the most important thing is to
maintain a line of communication with your doctors,” Dr. Spritzer says.

With her seizures and nonepileptic events under control, Janice
is able to volunteer again, working in a charity thrift store. She says that it
feels good to be able to contribute to her community. “Just because I have a disability doesn’t mean I can’t volunteer to
help others less fortunate than me,” she says. 

Note: A version of this story
previously was published in
Hometown Health.


HELPFUL LINKS

Mon, Feb 10 5:00am · Careful Evaluation, Genetic Testing Offer a New Path Forward

Diagnosed with multiple sclerosis, Maureen Jessen, always wondered why the disease affected her so differently than it did others. Doctor after doctor told her that MS was likely causing her symptoms, so she believed them. Mayo Clinic specialists, however, gave Maureen new insight into her illness — one that had nothing to do with MS.

Diagnosed with multiple sclerosis, Maureen Jessen, always wondered why the disease affected her so differently than it did others. Doctor after doctor told her that MS was likely causing her symptoms, so she believed them. Mayo Clinic specialists, however, gave Maureen new insight into her illness — one that had nothing to do with MS.




For 20 years, Maureen Jessen was a poster child for multiple sclerosis (MS). She worked and volunteered at the Hartford, Connecticut, chapter of the National Multiple Sclerosis Society, raised money for research on the neurodegenerative disease, and participated in research studies aimed at learning more about the illness.

Maureen’s diagnosis had never been clear-cut, but she followed her neurologist’s advice and took prescription medications to treat her MS. When Maureen and her husband relocated from New England to Phoenix in October 2019, she arranged to obtain care at Mayo Clinic in the Center for Multiple Sclerosis and Autoimmune Neurology.

Maureen
was aware of the high-caliber care offered at Mayo Clinic, but she never
imagined just how comprehensive and patient-centric her experience would be. Maureen’s
Mayo Clinic MS specialists, Cristina Valencia Sanchez, M.D. Ph.D., and Dean
Wingerchuk, M.D.
, offered personalized care that
uncovered the reason why her manifestations of MS didn’t align with typical MS
symptoms. Maureen didn’t have MS.

Maureen
actually has a rare, genetic metabolic disorder called cerebrotendinous
xanthomatosis, or CTX, which affects the metabolism of cholesterol and bile,
and results in systemic neurologic abnormalities.

“My husband and I have joked for years that I was always looking for my Dr. House,” says Maureen, referring to the lead character in a popular doctor-detective TV series. “Someday I was going to find my Dr. House, and it’s the weirdest thing in the world that here I came to Mayo Clinic in Arizona, and I found him.”

Maureen’s
condition, which is thought to affect only a few hundred people in the world,
is not something Mayo Clinic physicians often see. But in Maureen’s case,
uncovering the correct diagnosis was significant for her care.

“It’s
a pretty meaningful outcome for her to know what she has,” Dr. Wingerchuk
says. “I think that’s important for her and her family, so she can not
only be on treatment for this condition, but also stop potentially harmful
treatments for MS. It has a big impact.”

Finding the needle in the haystack

Maureen experienced the first symptom of her disease, a slight limp, in 1999. Her neurologist ordered an MRI and saw what he believed was a suspicious spot on her spine. “That started me down that road for MS,” Maureen says. “But when they redid MRIs and spinal taps and all of the other tests, they came back negative.”

As
her symptoms progressed, Maureen’s limp became more pronounced, and she
developed sensory issues, such as numbness and tingling. “Because there
was nothing else to really diagnose me with, they went ahead and diagnosed me
with MS,” she says.

Several
second opinions yielded the same diagnosis. “We decided that it was just
kind of a weird MS,” Maureen says. “I’ve run into other people in similar
situations, so I thought: “OK. I’m one of a few.”

While Maureen’s symptoms didn’t clearly point to MS, neither did they align with typical presentations of CTX, says Maureen’s neurologist and geneticist Radhika Dhamija, M.B.B.S., in Mayo Clinic’s Department of Clinical Genomics.

“Her clinical picture is very unusual. It’s not like someone missed it. She just had nothing to suggest it initially and carried the incorrect diagnosis of MS for decades.”

Radhika Dhamija, M.B.B.S.

In
people with CTX, fatty deposits called xanthomas form throughout the body, most
commonly growing in the brain and tendons that attach bone to muscle. The
xanthomas develop as a result of the body not being able to break down
different forms of cholesterol called lipids.

“Her
presentation is atypical, even for CTX. Most physicians would not have thought
of it,” Dr. Dhamija says. “She doesn’t have typical manifestations like
cataracts, and her cognition is intact. Her MRIs are abnormal now, but they weren’t
that abnormal before. Her clinical picture is very unusual. It’s not like
someone missed it. She just had nothing to suggest it initially and carried the
incorrect diagnosis of MS for decades.”

Before
Maureen’s Mayo team identified CTX as a possible culprit for her symptoms, they
ruled out a number of other illnesses. “We started by looking at common
causes of myelopathies, or spinal cord problems,” Dr. Valencia Sanchez
says. “We looked for vitamin B12 deficiency, copper deficiency,
autoimmune-mediated conditions and infections that may cause myelopathy, which
were all negative.”

After
eliminating the most common causes of spinal cord disorders, the team started
thinking about rarer conditions. One symptom Maureen mentioned during her
initial consults — swollen and sore Achilles tendons — gave the team pause.

“The
report about the Achilles tendon tears caught our interest because the patient
was actually pretty impaired as far as her mobility by the time she was
diagnosed with the tears, which is really quite unusual,” Dr. Wingerchuk
says. “We don’t see Achilles tears in people with MS who have mobility
problems. That’s just not common, so that was another possible clue.”

Research
into conditions associated with enlarged Achilles pointed the team to CTX. “That
is when we decided to refer the patient to Dr. Dhamija in our Neurogenetics
Clinic,” Dr. Valencia Sanchez says.

Accurate answers lead to targeted therapy

When
tests confirmed that Maureen had CTX, she established care with Dr. Dhamija and
started taking two medications. One is a prescription cholesterol-lowering medication.
The other is a specially formulated drug that prevents the fatty deposits that
lead to seizures, loss of sensation in the arms and legs, heart disease and
intellectual decline.

Given
the rarity of CTX, little information is available about its prognosis and
outcome, even when patients are receiving treatment. “It’s very hard to
know what to expect,” Maureen says. “There are definitely cases that
show this drug will basically prevent the cholesterol from … creating havoc on
your body. So my hope is this drug will prevent all the other things that can
cause issues. The hope is it will prevent future disability.”

“They can’t say, ‘You’re cured,’ because I was diagnosed so late, but we’re more hopeful than before. I feel more confident with this.”

Maureen Jessen

Although
CTX has no cure, the fact that Maureen has a validated diagnosis with a
targeted treatment makes her optimistic that the effects of the illness can be
halted. “They can’t say, ‘You’re cured,’ because I was diagnosed so late,
but we’re more hopeful than before,” says Maureen, who now uses a
wheelchair to get around. “I feel more confident with this.”

The
experience of discovering her rare disease and beginning new treatment has been
a whirlwind, but the speed at which Maureen’s team discovered and addressed her
illness reinforced her belief about Mayo Clinic.

“I
was impressed,” Maureen says. “Once they knew I had this disease,
they got me in —especially because of my heart. They were very concerned about
how my heart looked. So on the same day I got the diagnosis, I got tests of my
heart, which were negative. My heart is good. When push comes to shove, they
make things happen.”

For
patients like Maureen, whose symptoms don’t clearly align with a diagnosis, having
a medical team that remains dedicated to finding answers — no matter how
obscure the problem — is crucial.

“What
concerned us was that the diagnosis of MS appeared to be given by default
several times by different doctors despite her not having any typical MS
features,” Dr. Wingerchuk says. “That’s why we questioned the
diagnosis in the first place, and I think that’s something we do for every
patient we see here.”


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Fri, Feb 7 5:00am · Back on Her Feet and Pain-Free

Doris Jessesski tried a host of treatments to ease her chronic back pain, but nothing worked. Then a Mayo Clinic Pain Medicine specialist recommended a new type of spinal cord stimulator. That did the trick. Today, Doris' debilitating back pain is gone.

Doris Jessesski tried a host of treatments to ease her chronic back pain, but nothing worked. Then a Mayo Clinic Pain Medicine specialist recommended a new type of spinal cord stimulator. That did the trick. Today, Doris’ debilitating back pain is gone.




When Doris Jessesski had spine surgery in 2004 at Mayo Clinic in Rochester, she thought her days of back pain were behind her. After the procedure, which involved a hemilaminotomy and spinal fusion, Doris lived free of pain for 14 years.

But in fall 2018, the discomfort
came back in a big way. “It was very painful all the time,” Doris
says. “I’m a walker. I couldn’t go walking. I’d be sitting down watching
TV, and it hurt just to stand up.”

Doris went to see Evan Nelson, M.D., in Physical Medicine and Rehabilitation at Mayo Clinic Health System ― Franciscan Healthcare in La Crosse, Wisconsin. After assessing Doris’ condition, Dr. Nelson recommended epidural steroid injections and then sacroiliac joint injections to help ease the pain, which was being caused by a spine disorder called lumbar spondylosis. But the treatments didn’t work.

Doris began taking opioid medications to manage her back pain. Dr. Nelson also recommended Doris see a Pain Medicine specialist at Mayo Clinic in Rochester for further evaluation and treatment. In Rochester, Doris underwent another procedure known as radiofrequency ablation.

“We use specialized needles
and radiofrequency energy to destroy the nerves from the facet joint to
alleviate back pain,” says Matthew
Pingree, M.D.
, a Mayo Clinic Pain Medicine physician. “Unfortunately, she
only had temporary relief from that.”

It was time to try something
different.

A new alternative

During a consult in February 2019,
Dr. Pingree talked with Doris about another method to manage her pain. He suggested implanting an HF-10 spinal
cord stimulator
that would block the pain signals as they traveled from the nerves
in the back through the spinal cord.

“There is some good evidence that this type of stimulation works well specifically for back pain.”

Matthew Pingree, M.D.

“High-frequency stimulation is
different than other traditional types of spinal cord stimulation,” Dr.
Pingree says. “Unlike traditional types of stimulation, which are based on
feeling stimulation in the location of pain, the HF-10 uses such high-frequency
stimulation that the patient does not feel it. In addition, there is some good
evidence that this type of stimulation works well specifically for back pain.”

The treatment option appealed to
Doris. “I
had no idea that there were spinal stimulators, and when he told me about it, I
really got excited,” says the 75-year-old grandmother of 10. “When
you have so much pain, sometimes you’re grasping at straws. This offered some
real hope, even though Dr. Pingree explained there was a chance that it may not
work.”

Lasting relief

If her pain continued to worsen, Doris had been considering undergoing the invasive step of having a second back fusion surgery. After the discussion with Dr. Pingree, she decided to test the spinal cord stimulator first.

“I wanted to try this before I
did anything else,” Doris says. “You can’t undo back surgery.”

Doris used a temporary spinal cord
stimulator during a weeklong trial in April 2019. It worked. When she realized
the device could relieve her pain, she decided to move forward. She had a
permanent stimulator implanted in June 2019. Since then, Doris is back on her
feet and thankful for her renewed freedom.

“Dr. Pingree is friendly and personable. He’s up front in letting you know what you can expect. I would go back to Mayo any time.”

Doris Jessesski

“Before, I would stand on my
feet for an hour, and I would be in a lot of pain,” Doris says. “This
has been wonderful. I can take long walks. I can bake, which I love to do. I’m
glad I can do all the things I do with minimal or no pain.”

That’s just the kind of result Dr.
Pingree aims for when treating chronic back pain. “It’s always very
satisfying to help patients achieve their goals and give them quality of
life,” he says. “My experience with HF-10 in treating debilitating
back pain has been very positive, and we have had some excellent outcomes.”

Now Doris is happy to share her
experience and recommend the team in Pain Medicine to others. “I’ve been
encouraging others with back pain to give this a try,” Doris says. “Dr.
Pingree is friendly and personable. He’s up front in letting you know what you
can expect. I would go back to Mayo any time.”


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Wed, Feb 5 5:00am · Aggressive Approach to Pancreatic Cancer Yields Outstanding Outcome

Jim and Rita Krueger
Rita and Jim Krueger

When Rita Krueger found out she had pancreatic cancer, the outlook seemed bleak. Then she met a Mayo Clinic physician who was willing to go beyond the standard treatment to achieve remarkable results.




In more than half of people diagnosed with pancreatic cancer, the disease has already advanced to stage 4 before they notice any symptoms. But for Rita Krueger, a bothersome symptom was the catalyst for her diagnosis.

A persistent, intense itching prompted Rita to make a doctor’s appointment, and in short order, testing revealed that she had pancreatic cancer. The quick diagnosis didn’t seem to matter much at first, however, then a surgeon told Rita to get her affairs in order.

But a second opinion and a more aggressive approach to treatment at Mayo Clinic turned that outlook around. Today, Rita is doing well, and she’s eager tell others about her experience.

“I
want to talk about this, so I can change people’s lives in a positive way,”
Rita says. “Because pancreatic cancer can be so fatalistic, I want to give
people hope and let them know that they have options.”

Frightening news

When Rita went to see her primary care doctor in Lino Lakes, Minnesota, to find the cause of her itching, bloodwork showed that she had developed diabetes, and results of her liver tests were abnormal. Those findings, coupled with her skin discomfort, were ominous signs.

“Weight loss, itchy skin and new-onset diabetes — these are three red flags that you have pancreatic cancer,” says Mark Truty, M.D., a Mayo Clinic hepatobiliary and pancreatic surgeon.

Rita’s local doctor recommended she undergo an MRI. The imaging revealed a tumor in Rita’s pancreas, and it showed that her intense itching was due to the fact that the tumor was blocking one of her bile ducts. At that point, Rita was referred to a surgeon for a consult.

When
she walked into the surgeon’s office in February 2018 to discuss options to
remove the tumor, Rita says she was not prepared for the conversation that
followed. “I expected him to tell me he was going to do the surgery, and I
could move on with life,” Rita says. “Instead, he assumed it was
cancer and told me to get my affairs in order. I remember sitting in his office
crying. That was the first fatalistic conversation anyone had had with me.”

“I’ve been a very healthy person all my life, so this was a big shock.”

Rita Krueger

Rita underwent an endoscopy procedure to biopsy the tumor and place a stent in the blocked bile duct. Six days later, she received terrible news. “They confirmed I had pancreatic cancer,” she recalls. “I’ve been a very healthy person all my life, so this was a big shock.”

Rita and her husband, Jim, decided to go to Mayo Clinic in Rochester for a second opinion. On March 23, 2018, they met with Dr. Truty. A friend had told Rita about a high school classmate who Dr. Truty treated for pancreatic cancer and was cancer-free.

“I
read that (Dr. Truty) had lost his father to this disease and made it his
mission to help others have a better outcome. I felt like he was the dragon slayer
of this disease,” Rita says. “He was so confident, and he’d had such
good success. I felt a peace and a confidence when I went to see him. I trusted
him.”

Stubborn foe

After
meeting Rita and Jim, and reviewing her situation, Dr. Truty learned that
Rita’s tumor had grown outside of the pancreas, and it involved veins and
arteries that supply and drain the pancreas and go to the liver. That made her
condition complicated. But Dr. Truty had a plan.

“This
would be a very complex surgery that would only be beneficial if we could
remove the tumor and not leave cancer cells behind,” Dr. Truty says. “Our
approach was to do chemo first to kill the microscopic cancer cells that we
know most people have circulating, but we can’t see on any imaging.”

Typically, patients with other types of cancer undergo a CT scan at the end of chemotherapy to determine if the tumor has shrunk. But that imaging isn’t as helpful with pancreatic cancer. “One of the hallmarks of pancreatic cancer is that the cancer cells are embedded in a large amount of fibrosis, which makes penetration of the chemotherapy difficult,” Dr. Truty says. “It also makes it difficult to discern the actual amount of living cancer. Therefore, CT scans aren’t very predictive of whether the chemotherapy was beneficial or not, since the tumor doesn’t always shrink.”

“Because of this imaging, we’re open to taking on more complex operations than might be the case at other centers.”

Mark Truty, M.D.

Because of that, Mayo Clinic employs positron emissions tomography (PET) scanning combined with MRI imaging to determine how active the cancer is prior to chemotherapy. The test is repeated afterward to see if the activity has significantly decreased. “This is not often performed elsewhere and has revolutionized how we run our practice,” Dr. Truty says. “Because of this imaging, we’re open to taking on more complex operations than might be the case at other centers.”

In
April 2018, Rita began a three-drug combination chemotherapy that is one of
only two regimens that have significant benefit for pancreatic cancer. After
two months, however, a tumor marker blood test, a CT scan and a PET scan all showed
that the tumor had not responded to the treatment.

Dr. Truty put Rita on the second chemotherapy regimen. Several months later, tests showed no evidence of a response. He then recommended radiation therapy five days a week for five weeks, beginning in August. In mid-September, Dr. Truty repeated all the tests.

“Unfortunately, the tumor was the same size and just as active, despite all our efforts,” Dr. Truty says. “I had an otherwise healthy and vibrant 53-year-old woman in front of me who was very scared and would require a significantly complicated operation. Statistically, however, it didn’t seem like she would do well with surgery.”

After
extensive discussions with Dr. Truty about the risks and benefits, and after praying
about it, Rita decided she would move forward with surgery.

Excellent results

Rita
underwent the 10-hour procedure on Oct. 23, 2018. Dr. Truty took out her pancreas,
duodenum, spleen and left adrenal gland. He also removed and reconstructed
several blood vessels that were involved in the tumor mass.

Two
days after the surgery, the pathology report showed stunning results. There was
no cancer left in Rita’s tumor.

Part of the reason for that was a condition that had previously remained hidden. “The whole time we were seeing the tumor not changing or responding, it was because she’d developed severe pancreatitis,” Dr. Truty says. “A PET scan, despite its significant benefit in assessing response, can’t perfectly differentiate between inflammation of the pancreas and cancer. This was a wonderful surprise. Immediately, she was catapulted into a much better than average outcome.”

“I really feel grateful that I’ve been given a second chance. I don’t think I would be alive today if I hadn’t gone to Mayo.”

Rita Krueger

One
of the major predictors of survival in people who undergo surgery after
extensive chemotherapy is the amount of viable tumor found in the surgical
specimen. People who have very little or no living cancer left in the tumor
tend to do well long-term.

Rita
was able to leave the hospital 19 days after surgery. In January 2019, she went
back to her work as a software engineer full time. Because she had her pancreas
removed, she now has to take insulin throughout the day. She also has to take pancreatic
enzymes with her food to aid with digestion. But overall, she is doing well and
feeling good.

“I
really feel grateful that I’ve been given a second chance. I don’t think I
would be alive today if I hadn’t gone to Mayo,” Rita says. “Dr. Truty is a remarkable man and an innovative doctor who pushes
the envelope. He and his team have given me a chance to be more intentional about
how I live my life.”

Dr.
Truty credits Rita for being willing to persevere through all that was required
to get her to that positive outcome. “She trusted me, and I trusted her. We
both trusted our faith in order to make the right decision. We were on this
journey together. And this was the right thing to do,” Dr. Truty says. “I
saw her two weeks ago, and all the scans looks pristine. She’s getting back to
life, and that’s the whole point of this: to get some more time.”

Watch this video to learn more about treatment for pancreatic cancer at Mayo Clinic:


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