May 15, 2009

Team effort to fight rare disorder

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Bob Summers and his wife, Susan, who has multiple system atrophy, meet with David Robertson, M.D., and Bonnie Black, A.N.P., R.N. (photo by Dana Johnson)

Team effort to fight rare disorder

Through decades of coaching basketball, Bob Summers built an arsenal of inspirational phrases: let your vision guide you; try whatever it takes; never give up.

At his retirement in 2003, Summers' coaching didn't stop. He simply turned his focus from high schoolers to his wife, Susan, who had been diagnosed with Multiple System Atrophy (MSA) a year earlier.

MSA, formerly known as Shy-Drager syndrome, is a rare degenerative neurological disorder that causes problems with movement, posture, balance and autonomic functions such as blood pressure and bladder control.

Susan Summers' first indication of MSA was ataxia, or lack of coordination, in 1997. The Murfreesboro couple suspected Parkinson's disease but soon received an MSA diagnosis and eventually found their way to the Vanderbilt Autonomic Dysfunction Center and David Robertson, M.D., Elton Yates professor of Medicine, Pharmacology and Neurology.

Today Susan is wheelchair-bound. She cannot talk or swallow and has a feeding tube and tracheotomy.

“I do everything for Sue,” Bob said. “She is an excellent care receiver and is very trusting of me. It's just like I used to say in coaching, you're only as good as your team and a caregiver is only as good as a care receiver.”

Patients with MSA experience a slow degeneration of physical abilities while retaining full mental abilities. After Susan's diagnosis, the Summers joined an online support group and were able to talk with others about the progression of the disorder.

Bob said that while it was hard to think of what lay ahead, they had a chance to prepare.
Before Susan lost her ability to speak, she and Bob memorized a communication board that would allow Susan to spell out words using eye movements.

“We can sometimes be a long time getting a sentence in, but because we do it so much, I can read her mind. Our 41 years together may have something to do with that,” Bob said.

Susan used the board to describe what it is like to live with MSA: “I'm trapped in my own body.”

There is no cure for MSA and its cause is unknown, making diagnosis difficult and uncertain. A firm diagnosis is only available through autopsy when the one common thread in patients with MSA is revealed — glial cytoplasmic inclusions (GCIs).

“In healthy people, these GCIs are present, but they are dramatically present in MSA, and are themselves accumulation of proteins in bundles, which is abnormal,” Robertson said.

“So we have to then learn why they suddenly aggregate and stick together and then find a drug that will stop the process.”

The Vanderbilt Autonomic Dysfunction Center is leading a consortium of major centers in proposing to test a drug that might potentially halt progression of the disease, something that has not so far been achieved in this progressive disorder.

Vanderbilt has also supplied MSA tissue to scientists around the world who have promising projects, like Charles Ide, Ph.D., Gwen Frostic Professor of Environmental Biology at Western Michigan University, who is looking to compare MSA gene expression to that of people without neurological disease.

But Robertson is quick to point out that this is not a simple genetic disorder.

“We've seen more than 600 patients here with this disease, probably the most anyone has seen in the world, but we have not encountered a parent and child who have had MSA. So it's not inherited in a simple way. It's like a bolt from the blue,” he said.

Robertson hypothesizes that there may be a series of about 30 or more genes that each confer a little risk of MSA. “Each one alone doesn't confer much risk, but if you had a suboptimal form of each of those 30 all lined up, then it might mean that you would get MSA,” he said.

MSA is a rare disorder that is not well known, but both Summers and Robertson are working to elevate its notoriety and bring in more research funding. In March, the “Miracles for MSA” fundraiser was held with the help of Pittsburgh Steelers cornerback Fernando Bryant, who had been coached by Summers at Riverdale High School.

Susan has been receiving hospice care for the last three years, and Bob continues to rely on his motivational phrases to keep both their spirits up.

“It's important to have something to motivate you to move on,” he said. “We keep dangling hope out there. Every breath you take means you're living and have hope for something good.”