WMU Researches Rare Disease
Olga Bonfiglio
College of Arts and Sciences staff writer
Dr. Charles Ide, Western Michigan University’s Gwen Frostic Professor of Biological Sciences, happily accepted a check for $9,500 presented to him by Frank Cervone of Fairborn, Ohio (near Dayton) this October.
However, this check wasn’t just any check nor was the man who presented it just any man. Frank Cervone, 52, has Multiple System Atrophy or MSA for short. MSA is a rare neurological disorder that impairs the body’s involuntary (autonomic) functions. Formerly called Shy-Drager syndrome, the condition shares many Parkinson’s disease-like symptoms, but also includes progressive failure of autonomic systems that control blood pressure, pulse rate, and even swallowing. It is a terminal illness, but so far, Cervone has beaten the odds since his diagnosis five years ago.
Cervone, who has always been an upbeat sort of man, attributes his survival to the help of his family, friends and his positive attitude.
“I was determined not to get disconnected,” said Cervone. “My goal after I found out I had MSA was not to be a victim of it.”
One of the ways he does this is by walking with a cane instead of confining himself to bed or a wheelchair. Cervone also writes a blog and makes media appearances whenever he can to talk about MSA to raise awareness not only to the general public but also to the medical community.
The former eight-year councilman for Fairborn, OH, had to quit politics, but he served as an advocate for Ohio H.B. 184 which passed on November 28, 2012, to designate March as “Multiple System Atrophy Awareness Month.”
“There is great awareness for other diseases like cancer, but not for MSA,” said Susan, Cervone’s wife of 31 years who helps him with fundraising through Hope for MSA (on Facebook).
Funding research for MSA is sketchy, and WMU is one of a handful of universities studying it. Europe, Australia and especially Japan have out-funded the United States on MSA research. Yet, there is hope for a research breakthrough.
“Since 2002 we have used more high tech approaches to find out what’s happening at the molecular level,” said Ide. “We have a blue print of what’s wrong, but we still don’t understand all of the data. We're trying to help people who suffer debilitation equivalent to that seen in the worst neurological diseases and who retain full understanding of what is happening to them.”
MSA is called an "orphan disease" because only about 100,000 people suffer from the condition in the United States, so its treatment is not a high priority for either federal agencies or pharmaceutical companies. It is associated with the degeneration of nerve cells in specific areas of the brain. This cell degeneration causes problems with movement, balance and automatic functions of the body.
The cause of MSA is unknown and no specific risk factors have yet been identified. About 55 percent of cases are among males, typical age of onset is mid- to late-50s, and the condition is extremely debilitating.
Ide says his research team is focused on some similarities found in the brain cells of multiple sclerosis patients that are similar to those found in MSA patients.
Annamarie Valenti, a master’s degree student in the Department of Biological Sciences, is working with Ide to see how drugs for diseases with autoimmune involvement, similar to MSA, may be used.
“Valenti’s research will define how MSA shares cellular and molecular level pathologies with other neurodegenerative diseases that are already being treated with a variety of drugs. Testing already approved drugs that help patients with either Multilple Sclerosis, Type 2 Diabetes, and/or Alzheimer’s disease on model MSA related systems in the laboratory might eventually help MSA patients,” said Ide.
Cervone was diagnosed with MSA in 2010 after 18-months of tests that tried to find out what was wrong with him.
He needs assistance in doing things like swallowing. Food sometimes gets stuck in his esophagus; he doesn’t sweat or have a temperature; he cries without tears. He went from 304 pounds and a 40-inch waist to 148 pounds and a 27-inch waist within three years.
“I have to deal with it every day,” said Susan. “And, I have to be practical about it every day.”
“How do people get MSA? That’s not totally known, however, the evidence is pointing to a genetic predisposition interacting with, for example, pesticides and chemicals in food,or exposure to strong solvents,” said Ide.
For several years Frank drove a truck that hauled agricultural chemicals. He also worked in many new buildings where chemicals leached out into the air. He has also lived in industrial areas where fly ash from manufacturing was present.
“Doctors really don’t know much about MSA,” said Susan, “so that’s what we’ve devoted our lives to: informing everyone about MSA.”
The couple wears purple and teal, the colors identified with MSA, in order to get a conversation going among the people they meet. They also have teamed up with others, like the Barefoot Runners of Dayton, to raise funds for MSA research. Race organizer and barefoot runner, Doug Brandt accompanied the Cervones to WMU to present a $9,500 check to Dr. Ide.
“I always hoped there would be a researcher in a dark corner of a lab somewhere who would be working on MSA,” said Susan. “Then we found out about Dr. Ide.”