Reclaiming strength and independence after rare cancer diagnosis 

The 12 months was 2019. Alexa Lofaro was in her completely happy place, inside Nassau Veteran’s Memorial Collesium in Uniondale, New York, watching the New York Islanders play hockey. As she made her strategy to her seat, one other fan’s phrases caught her off-guard. “As I walked by him, he said, ‘Get home safely,’” Alexa says. “He thought I was drunk. I wasn’t drunk.”

Instead, Alexa’s gradual, cautious stroll down the sector stairs was to compensate for the progressive loss of steadiness and adjustments in gait she’d started experiencing months earlier than. “Things just got worse from there,” Alexa says. “I eventually couldn’t walk, and I wasn’t able to go to games anymore. That alone was hard for me because I’m a big sports fan.”

As her signs progressed, Alexa additionally discovered herself unable to proceed her profession as an lawyer in Long Island, New York. “I couldn’t go to court anymore because I was too unsteady to take public transportation,” she stated on this story by Mayo Clinic News Network. “I was alternating between somewhat dragging my left leg and swinging it around from the hip. My speech started changing, as well. It was garbled, and I sounded as though I had marbles in my mouth.”

After months of native specialists being unable to precisely diagnose the reason for her signs, Alexa boarded an airplane and flew to Minnesota, the place a workforce of specialists at Mayo Clinic labored collaboratively to unravel her medical thriller in just some quick days. “The first physician I met with was Dr. W. Oliver Tobin, who walked in and inside 5 minutes of me sitting down principally stated, ‘You’re misdiagnosed. This is what we expect it’s, and that is what we’re going to do to check it and affirm it,’” Alexa says. “He and others at Mayo Clinic then very quickly assembled whichever parties needed to be assembled to get me the right diagnosis.”

A multidisciplinary, pre-appointment collaborative strategy to discovering solutions

As it could end up, one of many key members of Alexa’s care workforce at Mayo Clinic wasn’t a single person, however a bunch of specialists who make up Mayo Clinic’s multidisciplinary Histiocytosis Working Group. Formed in 2017 by a workforce of specialists throughout the establishment with an curiosity in histiocytic illnesses and coordinated by hematologist Ronald Go, M.D., Dr. Tobin advised Mayo Clinic News Network that the group meets “once a month and are in regular communication when we have a patient like Alexa.”

And when Drs. Tobin, Go, and the remainder of the group hung out discussing Alexa’s particular person case and signs earlier than her first go to to Mayo Clinic, they started to suspect she was affected by a rare histiocytic dysfunction referred to as Erdheim-Chester disease reasonably than the persistent lymphocytic irritation with pontine perivascular enhancement aware of steroids, or CLIPPERS, she’d been identified with again dwelling in New York. “By the time Alexa came to Mayo, Dr. Tobin had already consulted with our clinical group that focuses on these disorders to get our input,” says Karen Rech, M.D., a Mayo Clinic histiocytosis pathologist who’s additionally a member of Mayo’s Histiocytosis Working Group. “Our radiologist, Dr. Jason Young, felt the imaging findings in her mind have been in line with Erdheim-Chester reasonably than CLIPPERS.”

Confirming the analysis

To be certain, the group would wish affirmation, and their first step was to order a non-traditional PET scan. “Dr. Tobin ordered a PET scan from the head all the way to the toes,” Dr. Rech says. “Typically, a PET scan only goes to mid-thigh. But in Erdheim-Chester disease, lesions often occur in the bone around the knee, so they’re missed by a typical PET scan.”

When the outcomes got here in, Dr. Tobin instantly noticed the attribute lesions involving the bones round Alexa’s knees that led him and others to consider Alexa was in truth affected by Erdheim-Chester illness. But they wanted but extra affirmation to make certain. “We still needed a biopsy and then genetic testing to further confirm the diagnosis,” Dr. Rech says.

In Alexa’s case, nonetheless, getting a viable biopsy would show difficult. “We talked a great deal about the best way to get a biopsy because if you have a bone biopsy that has a lot of calcified tissue in it, it needs to be de-calcified before we can section it and look at the sections under a microscope,” Dr. Rech says. “However, if you do that de-calcification process, it ruins the tissue for genetic testing, so we worked with the radiologist who was doing her biopsy to get a large volume sample and then to process it without de-calcification.”

Looking for a mutation

Successful biopsy in hand, the following step was to place the pattern by genetic testing to see if there was a genetic mutation that could possibly be answerable for Alexa’s signs. “About 10 years ago, recurrent mutations were identified in Erdheim-Chester disease that involve the MAP kinase pathway, and that’s the driver mutation of this disorder,” Dr. Rech says. “So, identifying that mutation is very important to confirming a diagnosis, because the findings under the microscope are not very specific, and in the end, we really need to confirm the genetic mutation is there.”

To make that affirmation, Dr. Rech and others relied on using a extremely delicate technique of genetic testing referred to as next-generation sequencing that evaluates a whole lot of hundreds of DNA strands without delay to detect mutations at very low frequencies. “We have to have a very sensitive test in order to find the mutation,” Dr. Rech says. And ultimately, next-generation sequencing proved delicate sufficient to search out what Dr. Rech and the remainder of Alexa’s care workforce have been in search of: a genetic alteration in her BRAF gene believed to be the supply of her signs and declining health.

Targeted remedy, outstanding enchancment

With the issue gene recognized, Alexa’s care workforce may now flip its attention to growing an efficient and significant therapy plan. “She hadn’t been responding to steroids, so we got a targeted therapy directed against that mutated protein and she’s shown remarkable improvement,” Dr. Rech says.

If you have been to ask Alexa, “remarkable” could be a little bit of an understatement, as a result of within the three-plus years it’s been since she first got here to Mayo Clinic, she says she’s by no means felt higher. “I feel so much better than I did when I first came to Mayo,” she says. “When I first came to Rochester, I was a hot mess. I couldn’t lift my left arm. I couldn’t do my hair. Now, physically, I feel so much better. I went from not working to now being back to work full-time after not being able to work for 712 days. I’ve been off medicine for two years now, and I feel the strongest that I’ve felt in years and that’s been absolutely fabulous. I have no limitations on what I can do. I can drive again. I can walk freely again. I can work again. I can be independent again.”

She also can start eager about her future once more. To that finish, apart from her much-improved health, Alexa additionally has another piece of thrilling information to share. “I’m getting married later this year,” she says. 

‘A very pleasant and well-run patient experience’

In Alexa’s thoughts, none of this might have occurred had she not come to Mayo Clinic. “From start to finish, Mayo Clinic offers a very pleasant and well-run patient experience,” she says. “You’re getting people who are at the top of their fields and at the height of medicine. Just the simple fact that I walked in there for the first time with a rare disease and within minutes they were like, ‘We think this is what it is,’ is amazing because leading up to that point I’d seen several doctors who’d never even heard about Erdheim-Chester disease. The fact that you can come to a place like Mayo Clinic and get that kind of assurance and that kind of meaningful treatment is amazing.”

Equally wonderful, Alexa says, have been the care workforce members who labored so diligently and so collaboratively to supply her with that assurance and therapy. “Everyone I met and interacted with was so friendly and caring and really took the time to make sure I knew and understood what was happening – and why – throughout every step of my treatment,” Alexa says. “I’ve been to several other medical centers – you don’t always get that level of care. At Mayo Clinic, they figured out what was wrong and put me on a path to feeling normal again.”

For Dr. Rech, having performed a job in Alexa’s transformation is why she grew to become a doctor to start with, and why she continues to be concerned in Mayo Clinic’s Histiocytosis Working Group. “We see patients like Alexa who go years without the correct diagnosis, so they have chronic fatigue, they have chronic bone pain, they have endocrine involvement, they don’t have normal hormone levels and they constantly feel sick,” she says. “It’s extremely gratifying to be able to help them. I went into medicine because I wanted to help patients and as a pathologist sitting behind a microscope, you don’t have a lot of personal connections to patients. So, to hear that something that you did and something that you and others worked hard on directly contributed to a patient’s care and had such a positive impact on their life feels really good.”

This article initially posted to the Mayo Clinic Laboratories blog.

You can learn Alexa’s preliminary story on the Mayo Clinic News Network right here.

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