Their words emerge as slurred whispers. They often lose their balance and fall backward, grabbing for towel fixtures and smashing into walls. Their faces freeze in anguished expressions. Their eye muscles are so weak that they can't look down. One patient, Bill Scruggs, can't even see his grandchildren playing near his feet. They, in turn, shy away from him.
The collective symptoms are so distinctive that diagnosis would seem easy. But this neurodegenerative disease, progressive supranuclear palsy, or PSP, is rare. That fact forces Scruggs and other patients into one of the most tortured journeys in medicine.
Because their symptoms are unfamiliar, neighbors shun them and doctors dismiss them. Victims wander for years before finding out what went wrong, and some die never knowing. Commonly misdiagnosed, they wind up taking the wrong
medicines and becoming misfits in support groups for ailments that aren't their own. They find themselves praying that someone famous will come down with the same thing, to boost awareness and research dollars.
With PSP and other rare illnesses, those who ultimately reach the right diagnosis discover it leads nowhere. There are no cures and few treatments.
Across the country, these circumstances are spurring the formation of dozens of advocacy groups for rare illnesses, as well as expansion drives among older groups.
The Society for Progressive Supranuclear Palsy, based at Johns Hopkins Hospital and founded in 1990, has nearly doubled its membership in the past year, from 3,000 to 5,200. The society recently received a $400,000 donation from a man whose wife died of the disease. One relative is so determined to attract attention to PSP that in a few weeks, he will attempt to climb a frozen mountain peak in South America and unfurl a PSP flag at its summit.
This momentum is hitting a grim reality.
Fewer than a fifth of the 20,000 Americans believed to have PSP have been diagnosed. Many people have been mistakenly told they have Alzheimer's or Parkinson's, two related diseases.
All three are conditions in which brain cells gradually die. In PSP, those cells are in a few tiny but important places in the base of the brain. It usually strikes people in their 60s, causing trouble with vision, swallowing, speaking, walking and balance. Patients say they feel as if they're moving through molasses. The course of the disease is faster than Parkinson's, leading to death in about seven years.
And unlike Alzheimer's, whose main problems involve memory and language loss, mental impairment is mild. Someone with PSP can consider their plunge into helplessness.
"Everyone feels very remote, very alone. Many of our friends and neighbors shied away, were embarrassed," said Mary Gualandi, whose husband, Gino, died in May 1996. The New Jersey woman formed a support group. "No one knows what this is. They know what Alzheimer's is, cancer is, AIDS is, but this is the lonely orphan."
Bill Scruggs and his wife, Audrey, expected an active retirement when he left his government job in 1983. He turned 55 on a Thursday, retired on Friday and flew to Florida with Audrey on Saturday. He lifted weights daily, danced with his wife, traveled around the world. Ten years later, on a cross-country trip, he first noticed feeling dopey and fatigued.
Doctors suspected the Alexandria, Va., man might have Parkinson's disease. The neurologist put him on one of the most successful treatments for it, dopamine. It had no effect even after the dosage was doubled and increased again.
Scruggs then got another diagnosis: multisystem atrophy, another degenerative disease related to Parkinson's. He tried other medicines, acupuncture and chiropractors. They even sought out a psychiatrist.
Without knowing why, Scruggs was giving up pieces of his life. He stopped driving, ballroom dancing, playing bridge, cracking open crabs while watching football games. Finally, in March, more than three years after his first symptoms, Scruggs was diagnosed with PSP. At 69, with no cure and few treatments, he was in for a cruel finale.
There are prescriptions to help Scruggs sleep nights and stay awake days. There is a therapist to teach him techniques to better swallow and speak. Mostly, though, there is the unspoken, the fear of what is to come.
His handshake is strong but stiff. His eyes seem locked on the picture window. His favorite blue corduroy chair has been pushed into the corner, replaced by a mechanical one with a seat that rises to help him get out of the chair.
During the past year, Scruggs' falls have become more frequent. The casualties: chairs, a glass tabletop, a sink, a wall in the upstairs hallway. Many other patients have had broken ribs, stitches, hospital stays. So far, Scruggs has escaped that.
At night, he's so tired that by 8, his wife helps him to bed. She finds him increasingly needing her help. She tries to encourage him to do things himself. "I'm so afraid that if I don't push, it's too easy then to say, 'It's too hard,' " she said. "Once that happens, I'm afraid it will be the end of it all."
But because certain parts of the brain are affected, the disease literally causes apathy, said Dr. Stephen G. Reich, assistant professor of neurology at Hopkins medical school.
In the cafeteria of a Virginia hospital, Scruggs works with a speech pathologist on techniques to help him eat. That may prevent common, fatal complications of PSP -- choking on food or aspirating it into the lungs, causing pneumonia.
His wife sits next to him during the therapy, with their 18-month-old grandson, Jonathan Mullett, on the other side. She alternates between helping the toddler eat a grilled cheese sandwich and cutting her husband's pork chop, because he can't look down at his plate. Afterward, Scruggs muses about why he got PSP.
"The only thing I can come up with is that God wanted me to die with no pain," he said. "There is no pain in this disease."
There is emotional pain.
People with PSP sometimes behave inappropriately, laughing or crying at the wrong times or talking too loudly. A man might rise as a woman approaches the dinner table, forgetting his risk of falling. Over time, they acquire a nagging cough, a mask-like look, eyes that seem faraway and sometimes hostile. All of it makes people uncomfortable.
Some friends won't let their children near, fearing needlessly that PSP might be contagious. One man's staggering gait made people mistake him for a drunk. Another man taking his dog for a walk was brought home by a neighbor, who scolded the wife for allowing him out of the house.
In some cases, the appearance of a PSP patient leads people to assume that the person has lost his or her mental abilities. But unlike those with Alzheimer's, with severely affected memory and thought processes, people with PSP often retain mental faculties.
Robertta Hunt, a Washington state woman whose husband died from PSP in 1993, said she was chastised for his presence at worship services. "So many people I know said, 'Why is she bringing him to church? He can't understand,' " she said. "But he knew what was going on."
Some PSP patients do develop dementia, but Reich said it is difficult to track because of a patient's trouble moving and talking.
Even Bill Scruggs' wife, Audrey, has troubled deciphering his mumbled speech. She asks him to repeat once, twice. Then she gets up from the couch and bends near, asking him again what he said. Finally, she gives up. He does, too.
Later, he asks her, "How many grandchildren do we have, nine?"
"No," she replies quietly. "Seven."
Eventually, these patients won't be able to talk, or walk, or even blink. Caregivers sometimes have to manually open or close eyelids that get stuck.
Families say humor keeps them going. Mary Gualandi's husband was 6 feet tall and weighed 180 pounds. When he fell in the bathtub, she couldn't lift him. So she turned on the faucet and floated him out.
The night before Gino Gualandi died, she took him to a casino in Atlantic City, N.J., where he perched on a stool at a slot machine, pulling the lever. He fell backward. "We got to laughing so hard," she said. "He was just lying like a turtle on his back."
At the National Institutes of Health in Bethesda, Dr. Irene Litvan has been trying to find treatments for PSP. She is now testing an Alzheimer's drug that increases the amount of a brain chemical involved in memory and thinking. It may also help balance. But, she said, for complex reasons, she often can't test the drugs she believes have the most potential.
The origin of PSP is unknown. Dr. Lawrence I. Golbe, associate professor of neurology at the Robert Wood Johnson School of Medicine, believes the most likely culprit is a naturally occurring chemical in food, air or water. Genetics also are being investigated.
But physicians say nowhere in the United States is a researcher working full time on PSP.
Almost 10 years ago, the National Commission on Orphan Diseases published findings that experts say still hold true: Research on rare diseases is uncoordinated and inadequately funded. Information on the diseases is lacking and poorly disseminated among patients, families, physicians, insurers and scientists. Insurers aren't covering needed services, such as medicine, durable medical equipment and special foods.
"How far have we come, with no money and no authority? We haven't come far," said Abbey Meyers, president of the National Organization for Rare Disorders.
All told, experts estimate that roughly 20 million Americans -- or one in 12 -- suffer from 5,000 rare diseases. The NIH Office of Rare Diseases provides one focal point, trying to link patients with each other and with researchers.
Say hi to D-Dad
Meanwhile, Bill Scruggs is fading away. His wife, Audrey, 71, carries on, running after their grandchildren, urging the younger ones, Jonathan and 2-year-old Anna Vaughan, to go to their grandfather, whom they call "D-Dad."
"Can you go say hi to D-Dad? Go show that to D-Dad," she tells them. They ignore her, playing with each other. Anna then runs to her grandmother, hugging her legs. "We love you, Grandma!"
Bill Scruggs watches from his chair. He leans forward and manages a "Hi." When the children run past him, he tries to pat them, but can't quite reach.
Later, after several false starts, the toddlers stand by his chair for a few minutes. Scruggs holds a small book, reading as loud as he can: "Cup, cap, dish, bottle, chair."
For the first time in hours, his stiff facial muscles allow his expression to match how he feels inside. He smiles.
For information about PSP, call the society at 800-457-4777. For information on rare diseases, see the NIH's Office of Rare Diseases Web site at http: //rarediseases.info. nih.gov/ord.
Pub Date: 12/15/97