by Lisa Doggett Family & lifestyle medicine physician, UT Health MS and Neuroimmunology Center; Sr. Medical Director, Sagility; Author of Up the Down Escalator: Medicine, Motherhood, and Multiple Sclerosis — March 28, 2024
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.