In the summer of 2019, Karson Lewis, then 23, was hiking with friends around Belton Lake, north of Austin, Texas when her legs suddenly stopped working. “It felt like I was stuck in quicksand, like my shoes were full of lead,” she recalled. She staggered over to a fence, where she steadied herself and caught her breath, blaming her symptoms on heat exhaustion. When other gait changes prompted a visit to an orthopedic surgeon in subsequent weeks, she received a diagnosis of bursitis and a steroid shot in the hip.
The steroids didn’t help, nor did physical therapy. More doctors’ visits, X-rays, and a knee MRI were unrevealing. “You’re fine. Take Tylenol,” one doctor said. The years went by without answers. The bills piled up, totaling well over $5,000 in out-of-pocket expenses.
In 2022, Lewis noticed ads for new drugs for multiple sclerosis (MS), a chronic neurologic disease. “For some reason, they really stuck out to me,” she said. She returned to her family doctor, who told her MS was unlikely but agreed to order an MRI, first of the spine (normal) and then, in response to Lewis’s continued pleas, of the brain.
“It took a 26-year-old woman crying in a doctor’s office, exhausted both mentally and physically, to finally start going down the right path to a diagnosis. Up until that point, I was convinced I was losing my mind,” she said. In June 2023, four years after her symptoms began, Lewis was diagnosed with MS.
A Challenging Diagnosis
Multiple sclerosis is an autoimmune disease of the central nervous system that damages myelin, the coating of nerve cells, and disrupts the flow of information within the brain and between the brain and other parts of the body. A leading cause of neurologic disability in young adults, it affects nearly 1 million people in the United States.
MS is notoriously difficult to diagnose. It manifests in different ways, with widely varying symptoms at disease onset. About 20 percent of people start out with optic neuritis, inflammation of the optic nerve that can cause visual problems and pain. But others present with balance problems, gait abnormalities, sensory changes, or cognitive dysfunction. Moreover, about 85 percent of people have a “relapsing, remitting” form of MS, meaning they will have exacerbations, followed by periods of improvement, complicating the clinical picture.
An MS diagnosis relies on a combination of clinical tests, a medical history and a neurological exam. Routine blood work and X-rays may be unhelpful because they are usually normal in people with MS. A brain MRI (magnetic resonance imaging), often combined with spinal MRIs, is a critical diagnostic tool, but not all primary care clinicians are comfortable ordering MRIs and initiating the diagnostic work-up for MS. Also, MRIs are expensive and not always readily available. A lumbar puncture, used to examine cerebrospinal fluid for certain proteins common in MS, can be helpful, but findings don’t correlate perfectly with MS.
Many symptoms of MS are not unique to the disease and often mimic those of other conditions. Early symptoms can be subtle and varied, including fatigue, numbness, tingling, and muscle weakness. They may be dismissed as temporary or attributed to stress or other less serious health issues. This often leads to individuals seeking medical attention from multiple healthcare practitioners before an MS specialist (a neurologist with extra training in MS) is consulted.
Consequences of Delay
Thirty years ago, MS treatments were in their infancy. Before that, the common refrain among neurologists, when encountering a new patient with MS, was “diagnose and adiós” – say goodbye – because nothing could be done.
Now, however, early diagnosis and treatment are crucial for people with MS. About 20 disease-modifying therapies (DMTs) are available to slow disease progression, reduce the number and severity of relapses, and minimize disability.
“We know that time matters in MS, especially when it comes to preserving physical and cognitive function as well as brain volume,” said Julie Fiol, Associate Vice President of Clinical Innovation and Strategy for the National MS Society, a nonprofit organization that funds research and services for people with MS. “The earlier someone is diagnosed, the earlier they can start therapy to reduce the risk of long-term disability.”
The type of MS medicine matters, too. Until recently, most doctors started new MS patients on medications that were less effective, but potentially lower risk, than other options. Emerging research shows that starting with more aggressive therapy initially may slow onset of disability.
“Prompt initiation of highly effective medication, rather than waiting for a treatment failure, is associated with better outcomes,” said Dr. Daniel Ontaneda, an MS specialist and researcher at the Cleveland Clinic.
The psychological toll that a delayed diagnosis can have on someone’s mental health can be equally consequential. Living with unexplained symptoms and not receiving appropriate care is often demoralizing and emotionally draining for patients and their families.
In my research for this column, I heard from nearly a dozen people with a delayed MS diagnosis. They described years of being dismissed by doctors, told their symptoms were due to stress, an ear infection, anxiety, or any number of other medical or psychiatric conditions. Karson Lewis’s doctor suspected a spine issue, not MS, because she “only had gait abnormalities” and no upper body concerns.
After a serious fall that left her with a concussion, another woman was told, “You must be a closet alcoholic. Your symptoms don’t match anything known to man, so you need to face it and go to AA.”
Lewis spoke for many when she said, “I’m glad to now know I’m not crazy or making something out of ‘nothing,’ as many doctors made me feel.”
My colleague, Dr. Leorah Freeman, medical director of the MS and Neuroimmunology Center at UT Health Austin, the clinical practice of Dell Medical School, has seen many patients with similar stories. “Research shows that women and people of color are more likely to have their symptoms dismissed or downplayed,” she said. “While this medical gaslighting is not always intentional, it can cause a significant amount of trauma and have a lasting impact on one’s ability to trust other healthcare professionals, further delaying appropriate care.”
Overcoming Obstacles
Fiol, of the National MS Society, said the situation is improving. She referred to a study published in Multiple Sclerosis Journal last year that reviewed time to diagnosis, based on 9,378 MS cases in New York state. The analysis showed that it has decreased to 1.1 years since 2017, compared to 4.2 years from 1982-2001. Even so, over 20% of people still wait longer than a year to learn they have MS.
Updates to the diagnostic criteria for MS have helped standardize and shorten the time to diagnosis. Additional revisions are expected, allowing doctors, in some cases, to identify MS in people with absent or atypical symptoms, Ontaneda said. Misdiagnosis – labelling someone with MS who does not have the disease – may be reduced as well.
Training frontline healthcare practitioners to recognize early MS symptoms, and reforming payment models to incentivize thorough patient evaluations, will also lead to more timely diagnosis and treatment initiation.
I have a vested interest in this cause. In 2009, I received my own diagnosis of MS, after developing inexplicable dizziness, double vision and taste changes. As a physician, I was able to advocate for myself; the specialists I saw took me seriously, and I was diagnosed within weeks of symptom-onset. I got started quickly on disease-modifying therapy. Nearly 15 years later, despite some relapses, I am able to work full-time and have no significant disabilities.
Most people with MS will, like me, do well on treatment. Making an accurate diagnosis in a timely fashion is essential.
If you or someone you know is experiencing potential symptoms of MS, seek medical attention promptly. Don’t hesitate to ask for a referral to a neurologist specializing in MS for a thorough evaluation.
Lisa Doggett, a columnist for Public Health Watch, is a family and lifestyle medicine physician at UT Health Austin’s Multiple Sclerosis and Neuroimmunology Center and senior medical director of Sagility. She is the author of a new memoir, “Up the Down Escalator: Medicine, Motherhood, and Multiple Sclerosis.” The views expressed in her columns do not necessarily reflect the official policies or positions of Public Health Watch, UT Health, or Sagility. Doggett can be reached through her website.