Huntington's symptoms typically start between ages 30 and 45, sometimes younger. Death comes about 15 years after the onset.
Sunday, December 04, 2005
BY FORD TURNER
Of The Patriot-News
On the day Raymond Stoe decided to die, he perched on the edge of a seventh-floor balcony, above a mostly concrete courtyard.
He had a wife and two sons and a master's degree and spoke several languages.
He was 34 and energetic. While hiking, he practically ran up mountains. Creating a family tree, he examined 10,000 names and crafted a flow chart that unfurled across the floor like a rug. It showed generations of soldiers, stone masons and saddle makers, all the genes that had made him what he was.
It was the road map of his killer.
Worming through the generations was the genetic glitch of Huntington's disease. And it had surfaced in Raymond Stoe.
His hands had started to twitch. He spilled things. He had become depressed.
His brother, Ronald, also had the disease. As children, they had watched Huntington's kill their mother. They knew their futures: slow, agonizing debilitation and early death.
But the worst thing was the children.
Each child of a Huntington's sufferer has a 50-50 chance of acquiring the disease. The Stoe brothers had children. That day on the balcony, Raymond Stoe knew he might have passed Huntington's to the next generation.
The thought was too much.
He let himself fall from the edge.
It was Feb. 26, 1997. Huntington's had inflicted yet another cruelty on the Stoes. Eight years later, in 2005, they would learn whether the disease had been passed to the next generation.
Danielle Stoe, 18, took a test to see whether she would face Huntington's. Her chances were 50-50.
The same as a coin toss.
Detection, but no cure:
Her first weekend home from college, Danielle Stoe sways on a porch swing behind her Londonderry Twp. home.
It is a nice day in October. The sun-splashed backyard harbors childhood memories. Sledding, gardening, hanging out after classes at Lower Dauphin High School.
And Huntington's.
Up the hill is the house where Uncle Raymond lived after his fall. He had struck a bush, one of the few unpaved spots in the courtyard. The broken bones healed, and Raymond continued his struggle with the disease.
Danielle was a kid then. But she knew Uncle Raymond was sick. Just as she knew her father was sick.
"I always knew he had something," she says of Ronald Stoe. "But I didn't know for a while that I could get it."
Huntington's causes neurons in the brain to degenerate. The damage leads to uncontrolled movements and emotional disturbances and gradually robs the body of its functions.
Symptoms typically start between ages 30 and 45, sometimes younger. Death comes about 15 years after the onset.
About 30,000 people in the U.S. suffer from the disease. Another 200,000 have a 50-50 chance of developing it. For those people, a voluntary DNA test can detect the presence of the Huntington's gene.
Medically, there is no reason to take the test. Huntington's has no cure. No medicine can slow it.
Those who take the test want to know whether Huntington's is in their future.
It is powerful information. Doctors at the Baltimore Huntington's Disease Center at Johns Hopkins University refuse to test anyone younger than 18.
"You can't unknow it," says Adam Rosenblatt, clinical director, of the test result. "This is a lot more permanent than a tattoo."
Danielle Stoe always wanted to know.
"Some people think this is kind of looking into the future, and is that a really good idea," she says.
That is not her view.
"If there is something I can't do anything about, I wouldn't let it get me down," she says.
Awful awakenings:
George Shore of Camp Hill once worked at the post office and coached Little League baseball. Now, 53 years old and eight years into his struggle with Huntington's, he is in adult day care.
Raymond Guyer of Mechanicsburg was an electrician and Navy veteran. His wife, Bonnie Guyer, watched him change from bright and articulate to helpless. Then Huntington's killed him last year.
In the family of Irvin Eshenour, a Carroll Twp. resident, the most recent victim was his younger brother, Richard. Prior to his death in March, one family member had choked to death. Another died of pneumonia. Another essentially starved.
But the true killer, in each case, was Huntington's and its years of ravaging the body. Eshenour, 70, said it is a "family killing disease" that remains largely misunderstood.
Each Huntington's family experiences an awful awakening to the disease.
A loved one starts to twitch or act strangely. There might be misdiagnosis and speculation on ailments. Finally, Huntington's is identified. Suddenly, all the strange behaviors and early deaths in past generations make sense.
Elmer Stoe experienced that awakening in 1967.
His wife, Nancy, blinked constantly. She had stopped bathing, stopped cleaning the house. That summer, driving the family car -- with the couple's three boys, Ronald, David and Raymond, riding inside -- she veered all over the road.
A Harrisburg neurologist examined her. Then, he lashed out at Elmer Stoe.
"What kind of man are you?" he barked. "Why would you do such a thing? Why would you bring three kids into this world?"
Stoe was dumbstruck.
"Your wife has Huntington's chorea ... a hereditary, degenerative brain disease," the neurologist told him.
Misunderstood victims:
Elmer Stoe, like so many others before him, had been blindsided.
Generations earlier, those who twitched and writhed were described as having "chorea." The term, like the modern word "choreography," was based on the Greek word for dance.
The first medical documentation came in 1872. George Huntington, an American physician, noted the hereditary nature of the malady that would bear his name. He called it "an heirloom from generations away back in the past."
Its sufferers were misunderstood. Woody Guthrie, an American folk singer prominent in the 1930s, died after a physical decline that was incorrectly attributed to alcoholism. Eventually, it was determined he suffered from Huntington's disease.
Today, doctors know it is a genetic aberration. The 1993 discovery of the gene led to the creation of the DNA test.
It looks for a "skipping record" effect in an individual's DNA, said Gerald Podskalny, a neurologist at the Penn State Milton S. Hershey Medical Center. In people with Huntington's, a particular chemical sequence is repeated, over and over, too many times.
Anxious moments:
The phone call comes in mid-autumn. Danielle's test results are ready.
She travels to Johns Hopkins to receive them.
Her grandfather, Elmer Stoe, and her stepgrandmother, Linda Stoe, go with her. Again and again, they have nursed loved ones through the descent of Huntington's. They want desperately for their grandchildren to be free of it.
At Johns Hopkins, they must remain in the waiting room.
Only Danielle's mother, Mindy Stoe, may accompany her into the doctor's office.
Danielle wears a loose denim jacket. Still just a freshman in college, she dreams of one day doing voice-overs for cartoons. Scrawled on her backpack is "carpe diem" -- meaning "seize the day."
She and Mindy walk past the arching green fronds of a fern on a receptionist's cubicle and into the doctor's office.
In the waiting room, Elmer and Linda Stoe talk quietly. It is the latest in a series of anxious moments that, for Elmer, started on that day in 1967 when the neurologist diagnosed his first wife.
He later learned that the "chorea" ran in Nancy's family.
Her great-grandmother, Sarah Mack, had thrashed about in her bed before she died in the 1920s. One of Mack's children, Arthur Hurst of Lancaster, swayed back and forth when he walked.
"People would say that my dad was drunk, and I would say, 'No, he is not drunk. He is sick,'" says Mildred Heistand, one of Hurst's daughters, who is 83 and lives in Columbia.
Arthur Hurst died in the 1940s. By Heistand's count, Huntington's made victims out of six of Hurst's 11 children. One was Elizabeth Fisher, who started to lose control of her body in the years after she had children.
"I remember holding my mother's hand, firmly, on top, and still that wouldn't control the hand," says Elizabeth "Betty" Jacobs, 73, of Millersville.
Elizabeth Fisher died in 1954. Her family was still unaware of what her disease meant for the children. The following year, one of her daughters, Nancy, married Elmer Stoe.
Before their 10th anniversary, the couple had three boys.
Planning for the disease:
They watched their mother die. It took years.
She regressed from unsteady walking to being bedridden. They cared for her at home.
Ron was the oldest. He earned good grades, ran track and cross-country at Annville-Cleona High School, and loved science fiction. He became his father's confidant.
They discussed how to deal with the disease that was claiming Nancy. And how to plan things, based on the 50-50 chance faced by each boy.
Huntington's guided the design of the home built by Elmer Stoe and his sons in Londonderry Twp. To facilitate caregiving, the master bedroom, bathroom and kitchen were placed side by side. Extra plumbing and wiring were added so a second, suitelike arrangement could be added later.
Raymond Stoe, the youngest son, kept a journal.
A 1980 entry read: "Last night I got thinking about home and Mom and started to cry. ... I prayed to know why my Mom is suffering for so long."
Nancy Stoe died in 1981. She was 45.
Early signs:
Out in the waiting room, Linda Stoe hears laughter coming from the doctor's office.
It sounds like Mindy.
She and Danielle have been back there for 10 minutes. Is it nervous laughter, or does it mean something?
Linda wonders how she should react if Danielle's test is negative. Or, if it is positive.
"Honey, just be supportive," Elmer says.
Married following Nancy's death, they have shared moments of psychological torment inflicted by Huntington's.
One happened in the spring of 1983. Linda and Elmer were sitting in a church pew. Ron sat in front of them.
He and his brothers had displayed no sign of Huntington's.
That day in church, though, Ron dabbed a forefinger at the bridge of his nose.
Then he did it again. And again.
Elmer and Linda Stoe looked at each other. They knew the hand movements were involuntary. Unable to wait for the end of the church service, they stood, went to the parking lot and cried.
The gene had found its way into another generation.
Having children:
The threat of Huntington's often cannot conquer the desire to become a parent.
Rosenblatt, an expert at Johns Hopkins, said he does not tell patients not to have children.
"I might help them explore the risks and possibilities," he said.
Podskalny, the Hershey Medical Center neurologist, said having children is an area where religious beliefs and other things take over.
The Stoes are Mormons. They believe families are reunited after death, for eternity.
On their wedding day, Ron and Mindy knelt face to face, between two mirrors. What they saw when they gazed at each other was a series of seemingly endless reflections.
Danielle was conceived after her parents were aware Ron had the disease. Later, Danielle went through a period when she was troubled that they chose to bring her into the world, despite the 50-50 chance.
Mindy told her daughter: "I really wanted you."
Frequent suicides:
Raymond's symptoms appeared years after Ron became sick.
They became severe while he and his family lived in Switzerland. His master's degree was in international business. For a time, he was a controller for the company that made Swatch watches.
His wife noticed a twitch in his hands. She thought it kept him from getting another job. Employers saw the way he fiddled with his briefcase -- Raymond's jerking hands would snap it open, shut, open, shut -- and wrote him off, she figured.
He was home alone the day he let himself fall from the balcony.
When the call came from Europe, Linda Stoe, a nurse for 30 years, knew what had happened. She knew that suicide was a leading killer of people who suffered from Huntington's.
Eventually, Raymond and his family moved to the Londonderry Twp. house he had helped his father build, with Huntington's in mind. Living just down the hill, Ron already was far along in his struggle with the disease.
Raymond Stoe's symptoms progressed rapidly. His arms flailed uncontrollably and violently. People helping him would unintentionally be socked in the nose.
Raymond would say: "I am sorry. I am sorry."
One surviving son:
His funeral was in November 2000. Ron was too sick to attend.
He had difficulty getting around. In a wheelchair, he was able to watch Danielle sing in the ensemble for the Capitol Dinner Theatre.
Sometimes, Ron sat on his hands to keep them from moving. Mindy, a nurse's aide, saw to it that Ron never had a bedsore.
She moved his hospital bed into a room just off the kitchen. Last Christmas, the tree at the foot of the bed was decorated with ornaments Ron could appreciate -- a Romulan spaceship and a Spock figure, the Millennium Falcon from "Star Wars."
Ronald Stoe died in late August.
The only one of Nancy's children left was David.
"Sometimes, I feel like I need to be living my life so much better to make up for theirs," he said.
He took the test for Huntington's. The result was negative.
Testing dilemma:
Raymond's sons are too young to be tested.
After the 18th birthday, though, the testing option creates a dilemma for every child of a Huntington's sufferer.
"My husband won't get tested. He doesn't want to know," says Jessica Bedleyoung of Lebanon County, whose mother-in-law suffered from Huntington's before her death last year.
Kelly Roberts, who grew up in Hummelstown and saw her father suffer from Huntington's, struggled with the testing question. By her late 20s, it dominated her life.
She was a school teacher and single. She would get into a relationship with a man and the Huntington's issue -- the fact that she might come down with it -- would dominate that, too.
"Gosh," she would say to herself. "When do I tell him? At first, and that scares him away? Or after I fall in love with him, and then I scare him away?"
Two years ago, at 35, she was tested.
"I was a mess for most of my life, being lost in thought about this," says Roberts, who now lives in San Diego. "... I was basically a teacher who went to yoga and then went home and thought about Huntington's."
Her result was negative.
Getting the results:
The wait is over.
Elmer and Linda Stoe's oldest grandchild, the college girl with artistic flair, walks toward them.
Does Danielle have the gene?
The chances never changed. All those people in generations before her -- people named Arthur and Sarah and Mildred and Nancy and Raymond and Ronald -- faced the same chances.
They were 50-50, just like a coin toss.
The answer is conveyed before any words are spoken. Mindy's eyes are red from crying.
Danielle looks concerned for her grandparents.
"I can tell by your face," Linda Stoe says, opening her arms for Danielle. "I love you."
They hug. Danielle asks her grandfather if he is OK. Mindy starts to cry again.
"I think Mom is more worried than I am," Danielle says.
Her DNA has the signature "skipping record" effect. The doctor said her number of chemical "repeats" was almost the same as her father's.
There is no telling when symptoms will start.
It could be five years from now, or 25.
"I am not going to change anything," Danielle says. "Except, I think I will not have any children. I think I will adopt."
Mindy says, "Oh, thank you."
Source: http://tinyurl.com/98tpe
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