By Louise Hoffman Broach / The Citizen

Frank Hiscock was 6 years old when he began to notice subtle changes
in his mother.

An avid skier, she shushed down a slope and promptly announced she
wasn't feeling right. She dismissed it, but over time, there were
other problems. Her movements became jerky, her behavior erratic and
her thinking skewed. She took off from the family's Skaneateles home
and turned up with relatives in Rhode Island.

Eight years later, doctors sent her to Tufts University. There, they
found that his mother - and many of her relatives with similar
symptoms - weren't crazy. They suffered from Huntington's disease, a
hereditary, degenerative brain disorder for which there is no
effective treatment or cure.

Hiscock's mother suffered 13 years before dying while he was a high
school senior.

That's why Oswego native Michael O'Brien's death while climbing
Mount Everest in hopes of bringing world attention to Huntington's
is so poignant for Hiscock, now 46 and afflicted with the disease.

"It was a beautiful gesture," Hiscock said about O'Brien's effort,
which he made with brother Chris, to raise $100,000 through the
climb for the Hereditary Disease Foundation. "I am sorry he died,
but I want to thank his family. The more exposure we get and the
more awareness that's raised can only help."

HD, through a toxic protein, slowly diminishes the affected
individual's ability to walk, think, talk and reason. Eventually,
the person with HD can become dependent upon others for care.
Huntington's disease profoundly affects the lives of entire
families: emotionally, socially and economically.

Named for Dr. George Huntington, who first described this hereditary
disorder in 1872, HD is now recognized as one of the more common
genetic disorders. More than a quarter of a million Americans have
HD or are at risk of inheriting the disease. It is passed on by a
dominant gene. If a child inherits it from a parent, that child will
develop the illness. Those who don't get the gene - and the odds are
50-50 - won't get sick and can't pass it on. HD never skips a
generation.

Although the illness has gotten significant attention since the
1970s, there are still families that don't know they are afflicted.

Dorothy Miller, 73, of Auburn, has HD, but until her brother was
diagnosed in the middle 1990s, she'd never thought about the
illness. He was already in his 60s, as was Miller, when an in-law in
the medical field suggested Huntington's might be responsible for
his symptoms.

He, Miller and a sister tested HD positive. Their other four
siblings did not inherit it from their mother, whom Miller always
thought just had dementia.

Typically, symptoms manifest themselves while people are in their
30s, 40s, or 50s, but not always. There is a rare juvenile form of
the illness, and sometimes, symptoms can be so mild that, as in
Miller's case, they don't show up until much later in life.

Miller considers herself lucky because she is still driving and
compared to her siblings and others she's seen with HD, her
movements are mild and mental capabilities strong. Although there
are no drugs that eradicate symptoms completely, there are some
medications and nutritional supplements that seem to ease them.

She thinks they are helping her, but there are times when the
movements are worse and she finds herself extremely irritable and
short with her husband. She also has trouble making simple decisions.

But, she said, she is optimistic, stays busy and looks to her church
community for support. She is also extremely open about talking
about what's wrong with her, because she wants people to understand.

Before the illness got so much attention, people with Huntington's
were sometimes perceived as drunk, or insane, especially as the
illness progressed. They were hidden away in institutions or at
home. It shouldn't be like that anymore, Miller said.

Poplar Ridge resident Kay Reynolds' husband, George, has
Huntington's disease, with symptoms much more pronounced than
Miller's. In his late 40s, George's movements can be severe, and he
uses a wheelchair to get around when the couple goes out in public.
He does not speak readily about the illness, although Kay Reynolds
does.

She said Reynolds had a grandmother who died in the former Willard
Psychiatric Center in Seneca County and an uncle who had similar
symptoms, but no one knew it was Huntington's at the time.

A control operator for New York State Electric and Gas Corp.'s power
plant, he was diagnosed in the mid-1990s.

"Having to stop work was the hardest thing for him," Kay
said. "There was a lot of depression and anger in the beginning. The
Huntington's made him violent, and it was so out of character for
such a loving and kind man."

The attention the O'Briens are bringing to Huntington's is important
because it shows how the illness can devastate an entire family, not
just those who inherit the gene, she said.

The Reynolds have two children and several grandchildren. Kay said
her children and their spouses know HD is a future possibility in
their lives.

There is a test to determine if the gene has been inherited, but
only 3 to 4 percent take it, said Dr. Peter Como, an associate
professor of neurology, psychiatry brain and cognitive science at
the University of the Rochester and co-director of its Huntington's
Disease Center of Excellence. Hiscock, Miller and George Reynolds
are all patients there.

Some people simply don't want to know because HD is incurable, Como
said. Others worry that insurance companies and employers could find
out and use the information against them.

Hiscock didn't take the test, but sensed that he had HD before he
got a definitive diagnosis. One of his siblings has it and the other
does not. Hiscock made a conscious decision he would not have
children because he remembered how hard it was for his father when
his mother was ill and there were still youngsters that needed
raising.

Although he had to go on disability and can no longer work, Hiscock
remains optimistic, and busy. He checks with doctors in Rochester
every six months. Like Miller, he is grateful because he seems to be
in a stage of the illness where progression is slow.

He is organizing the Hunt for the Cure Golf Tournament at
Skaneateles Country Club June 20 to raise money for Huntington's
disease research. Childhood friends have banded together to help
him. The tournament is nearly sold out - it was so popular an
afternoon session had to be added. There will also be a dinner non-
golfers can attend.

"I still play golf, but I'm not as good as I used to be," joked
Hiscock, who hopes those who share his hobby can make a significant
contribution to research.

Proceeds will go to the Huntington's Disease Society of America,
which acts a clearinghouse for HD and sponsors support groups across
the country. Deborah Lovecky, communications director for HDSA, said
what people like Hiscock and the O'Briens are doing is important
because it helps to break the chain of keeping Huntington's a family
secret and points out the optimism of research.

"I'm still hopeful," Hiscock said about the prospect of curing the
illness in his lifetime.

Fueling that hope are four new Huntington's studies set to get
underway at the University of Rochester in the next six months.
Their goals are to identify medications that can be safely tolerated
and slow down the illness and improve cognitive function.
Observational research on at-risk patients is also beginning to help
doctors determine how the illness develops, opening the door for
further intervention to treat and eventually prevent it.

"It's really an exciting time," Como said.

Miller, whom Kay Reynolds calls an inspiration because of her
willingness to speak about Huntington's, said she was never bitter
about developing the illness. She is focusing on living the fullest
life she can with it.

That seemed to be the O'Briens' goal as well, she said.

"It's better to talk about it," she said. "We need to spread the
awareness."

Source with photograph: - http://tinyurl.com/9rvbq

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Sue (aka sue_twin2)

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"Life is like a grinding stone: it can polish you or pulverize you,
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