Mike Powers had been feeling dizzy for weeks, but he didn’t go to a doctor until he started seeing double and had a sharp pain in one of his ears. Suspecting that he had an ear infection, he visited an ear and nose specialist—but the doctor couldn’t figure out what was wrong. Powers then went to see a neurologist, who ordered an MRI and warned him that he might have multiple sclerosis (MS).
We’ve all had patients we wish we had seen in the very beginning when they were first diagnosed. Katherine DeStefano, MD
The doctor’s suspicions were correct. Powers (not his real name) was diagnosed with MS—an inflammatory autoimmune disease where the body’s immune system abruptly attacks the nervous system, disrupting the flow of information within the brain and between the brain and body. Symptoms include weakness, numbness, loss of vision, fatigue and poor balance.
MS often progresses rapidly, and since early treatment of the disease is essential to prevent scarring of brain tissue and permanent brain damage, it’s important for people with symptoms of the disease to see a neurologist quickly for diagnosis and to start treatment.
Unfortunately, there is a national shortage of MS specialists and many patients have to wait a long time for care. This makes it difficult for people who are newly diagnosed with the disease to get the quick treatment they need in order to stop the disease from progressing.
That was Powers’ predicament. After he received his initial MS diagnosis from a community physician, he was told he would not be able to get an appointment with an MS specialist for weeks. Meanwhile, his condition was rapidly deteriorating. He began to feel numbness in his feet. Within a few days, his entire body was numb.
MS Access launched
To help address the problem of delayed care, the Yale Multiple Sclerosis Center, which is a collaboration of Yale Medicine and Yale New Haven Health, has launched a new program called MS Access. The goal is to help patients receive treatment as quickly as possible—sometimes within 48 hours. “What I see happening is patients get an MRI scan from an ophthalmologist or neurologist and then they have to wait weeks, sometimes months, before they get treated,” says David Hafler, MD, professor of neurology and immunobiology at Yale School of Medicine, who has been treating people for MS for over 30 years. “The idea was to eliminate the barriers patients face to get treated.”
People who have recently be diagnosed with MS or who suspect that they might have it should ask their physician to refer them to the Yale Multiple Sclerosis Center at 203-287-6100.
The initial visit to the clinic involves a variety of medical tests conducted by a Yale MS specialist. These may include a brain MRI, blood tests and spinal tap (lumbar puncture), a procedure where physicians collect and study the fluid surrounding the brain and spine. Depending on the findings, the team then puts together a treatment plan. A particular advantage of being involved in Yale Medicine’s MS Access Center is that, via clinical trials, patients can often have early access to promising new medications or experimental infusion therapies which may not yet be available to the general public.
Aggressively treating MS during the early stages of disease can improve outcomes, says Katherine DeStefano, MD, assistant professor of neurology, director of the Yale Multiple Sclerosis Center and a member of the MS Access team. “We’ve all had patients we wish we had seen in the very beginning when they were first diagnosed,” Dr. DeStefano says.
More aggressive medications
Until recently, the treatment protocol for MS began with less aggressive medications, especially for younger patients. The doctors would then wait to see if the drug was effective before prescribing a different option. Those medications often proved ineffective. Newer medications are much more targeted and aggressive, which decreases the frequency of treatments and thus decreases the drug-related side effects.
While there are some acknowledged risks to these new medications, including infections and organ failure, studies show that they are 80-90 percent effective in preventing new brain lesions. Though neurologists everywhere are intrigued by the results achieved by the more aggressive infusion therapy, they have not yet been widely adopted
There is still a lot of speculation but no known cause for MS. Scientists believe some people may have a genetic predisposition for it and that the environment may also play a role. These genetic factors, combined with environmental triggers like vitamin D deficiency, Epstein-Barr virus and/or smoking, may contribute to the development of MS.
While there’s still a lot to understand about the causes and progression of MS, Yale Medicine doctors are at the forefront of the research. Dr. Hafler was the first to provide evidence that circulating T cells, a type of cell important in the immune response, migrate into the brain and spinal cord in patients with MS. This discovery has helped scientists better target research and therapies. In 2003, Dr. Hafler led the first scan of the entire human genome to identify over 200 gene variants associated with MS, a project that has accelerated our understanding of the underlying genetic causes for the disease.
In addition, other doctors, including Erin Longbrake, MD, PhD, associate director of the MS Fellowship Program and David Pitt, MD, associate professor of neurology, are examining everything from dietary salt intake to the gut microbiome to look for possible causes for the disease.
Powers came to Yale three weeks after his initial diagnosis and, through one of the clinical trials, was able to start taking a new drug called Ocrelizumab. The drug, like many of the newer infusion therapies, delivers monoclonal antibodies that suppress parts of the overactive immune system to prevent further neurological damage. This new drug, about to be approved by the FDA, is one of the most effective drugs for treating MS. Today, Powers can walk and has regained feeling in his legs. Although he still suffers from intense fatigue, he’s feeling optimistic.
So is Dr. Hafler, who believes this is what MS care should look like. “I’ve wanted to do this my whole career,” he says.
To learn more about other clinical trials at Yale Medicine, visit Yale Studies.