When Denise Savarese, 60, of Sicklerville learned that she had a progressive form of multiple sclerosis in 1992, she feared breaking the news to her mother. Yet before she could, her mother pointed to herself and said, "I heard you have this."
She could not bear to say out loud that her daughter shared the MS that had severely limited her own life.
But given major advances in MS care over the last 20 years, Savarese's path would differ greatly from her mother's. In 1993, Savarese was put on the first injectable drug for MS, betaseron, a form of interferon that can prevent flare-ups. And while she now takes drugs just for symptoms, she is eagerly watching the new compounds coming onto the market.
"MS has gone from an untreatable disease to having ten FDA-approved therapies for relapsing MS, the most common form of the condition," says Arney Rosenblat, a spokesperson for the National MS Society.
"It's a wonderful time to be a neurologist and to have the opportunity to do some great things for people," says Clyde Markowitz, the director of the Multiple Sclerosis Center at the University of Pennsylvania.
There remains no cure and little treatment for rarer forms of MS. Relapses can be debilitating. "What we're looking for next," Markowitz says, "are more effective therapies, better-tolerated therapies, and restorative therapies."
A chronic autoimmune disease, MS destroys nerve-insulating material called myelin and damages the underlying nerve fibers in the brain and spinal cord, which can lead to weakness in one or more limbs, balance problems, and numbness. MS affects about 400,000 Americans, mostly younger women. Over the past year, the National MS Society has spent nearly $50 million on 380 research projects around the world.
Sometimes called the 'snowflake disease,' MS can vary by individual.
The most common type is relapsing-remitting, which affects about 90 percent of patients. Patients suffer flare-ups in which their symptoms worsen, followed by partial or complete remissions. About ten percent of patients have a progressive form of the disease, in which their MS symptoms worsen without relapses.
The big shift in recent years has been an increase in the number of drugs for the relapse-remitting form of MS that can be taken orally, rather than by injection like the earlier treatments. There are no new drugs for the progressive forms of the disease.
"The main advantage of the newest oral drugs is that they are not injectables," says Thomas Mirsen, a neurologist at Cooper University Hospital. "They are not as groundbreaking as earlier treatments."
Gilenya, which can reduce relapses and delay disability, is now being tested in children and adolescents. It also slows the heart rate, requiring regular heart monitoring, blood work, and a checkup by an eye doctor.
Tecfidera, which helps with relapsing MS, can cause flushing and gastrointestinal problems, though it has gained wide acceptance among doctors and patients.
Still, "if someone is doing well on the older agents, and don't have needle phobia, most neurologists won't switch them to the newer agents," says Mirsen. "Why rock the boat?"
Gaps remain in MS care. There is no way to restore functions that patients have lost, said Donald Barone, chief of the neurology division at Rowan University School of Osteopathic Medicine and director of the Multiple Sclerosis Center of South Jersey. "We have to get better at symptom management."
Early on, Savarese believed that her walking problems were connected to a once-fractured tailbone. Yet while an orthopedist said she checked out fine, her troubles persisted.
"I was a very active person," she says. "I was a Eucharist minister in our church and I had to start holding onto people to get around."
Finally, friends persuaded her to see a Jefferson neurologist, who diagnosed MS.
"My first reaction was that couldn't be it. I had seen what the disease had done to my mother. She was in a wheelchair and slept in a hospital bed. She rarely left the house. She had incontinence, and couldn't really do anything but feed herself."
Unlike her mother, who was embarrassed by her symptoms, Denise contacted the National MS Society and began to get involved with fellow patients. She and her husband left their South Philadelphia house and moved to a ranch home in Sicklerville, installing a ramp in the back for her walker and making sure that the bathrooms were large enough eventually for her wheelchair.
"The world has changed," Savarese says. "When my mother went to a restaurant, we often had to take her through the kitchen. But now I have a lift for my scooter in the back of my car and I'm out and about any time I want to." Her latest excursion was to a baby shower honoring her youngest daughter, who is expecting her first child.
Savarese also joined and now runs a support group that she's been part of for 18 years.
"It's funny," she says. "When I'm at the meetings, I often see myself as the daughter of someone who has MS, rather than a person with MS herself. I'm more concerned about helping someone else, rather than comparing myself to others."
Savarese goes for physical and cognitive therapy in Cherry Hill twice a week, and joins a prayer group once a week. Her three grown children live nearby, as well as her eight grandchildren. She also teaches kindergarten at her church on Sundays.
"Once in a while I have a pity party," she says. "But I try not to stay long and try not to invite anyone else."
What would she like the world to know about MS? "That while it's a life-altering disease, it isn't always life-threatening. That many patients live full lives."
Clyde Markowitz, director of Penn's Multiple Sclerosis Center, discusses new agents and trends:
Ocrelizumab, for both relapsing and primary progressive MS. Now in final, Phase 3 trials, it shows a "very robust" response to brain lesions and clinical attacks, and may go for FDA approval next year.
Laquinimod, which slows the progression of disability. It also reduces flare-ups, but not as well as other drugs. The FDA wants more data.
Alemtuzumab, which protects against relapses and progression. It can cause thyroid disease, so the FDA has not approved it, asking for more tests. Its rejection has the "MS community up in arms," Markowitz says, because some patients could benefit.