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Save the Date.. May 30, 2009
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Daughter goes to bat for her disabled father By Robert Miller THE NEWS-TIMES
SHERMAN — We take for granted certain things — the ability to take the top off the toothpaste tube, the ability to find a bottle of shampoo. Because of a rare genetic disease, Frederick Maher can’t take these simple tasks — not to mention the tough ones like walking down the street — for granted. “A good day is when I can get on the bus,’’ he said of the twice-weekly trips on a van for the disabled that can take him to the Danbury Fair mall or to the local library. “A bad day is when I don’t get out of bed until 2 or 3 p.m.’’ Maher, 46, like his father, like two other siblings, has Huntington’s disease — a progressive, incurable, untreatable malady that destroys brain cells. About 30,000 Americans have the disease, which causes a variety of symptoms — slurred speech, jerking, uncoordinated movements, depression and dementia.
His 13-year old daughter, Melinda, has watched her friends rally to support other diseases. And she’s seen what her father has to live with. “There’s nothing ever done for Huntington’s disease, and that got me frustrated,’’ she said. So Melinda has started her own project — to fill 100 baskets with personal toiletries like soap, toothpaste, shampoo and mouthwash — to give to each of the 100 patients at the Huntington’s Disease Clinic in New York City where her father gets medical care. She’s already begun working with the Sherman Congregational Church to collect the items, but she could use more donations. The idea is to have a basket to keep all these items in one place. “If people with Huntington’s disease can’t find something easily, it gets harder and harder for them to find things,’’ said Charlotte Maher, Frederick’s wife and Melinda’s mother. Huntington’s disease is a genetic mutation that causes certain brain cells to degenerate. The mutation is a dominant gene. That means that there’s a 50-50 chance that any child of a person with Huntington’s disease will inherit the mutation and the disease. Those who do not get the mutation will not get the disease and cannot pass it on to their children. “It’s really a classic genetic disease,’’ said Dr. Allan J. Tobin, scientific director of the Hereditary Disease Foundation in Los Angeles, and director of the Brain Research Institute at the University of California at Los Angeles. “With other diseases, there may be a genetic component. But this is clearly the product of one gene.’’ Researchers don’t know why the mutation does the damage it does. The National Institute of Neurological Disorders and Stroke says the mutation may block the body from producing substances that prevent cell death; the brain cells may also be dying from over-stimulation or because the body is producing toxic compounds called free radicals that damage the brain. Tobin said there are strong hints the mutation may foul up the processes of other genes. It may keep neurons from disposing of the remains of proteins they’ve used. “If you look at a lot of these diseases — not just Huntington’s, but Alzheimer’s disease and Parkinson’s disease — you find a lot of cells sort of filled with junk,’’ he said. The symptoms of Huntington’s disease include depression, dementia and mood swings. It also destroys coordination and causes uncontrolled motions in the hands and feet — called chorea. Those with the disease are left with a stumbling gait, slurred speech, and short-term memory loss. Huntington’s disease occurs equally in both men and women, with the symptoms usually manifesting themselves when the patient is between 30 and 50 years old; people can live with the disease for 10 to 30 years once the symptoms manifest themselves. There are records of Huntington-like symptoms in patients going back to the Middle Ages. It takes its name from American physician George Huntington who, in 1872, described it scientifically, noting how it is passed from generation to generation. But until recently, it was difficult to diagnose. The great American folksinger Woody Guthrie — who wrote “This Land is Your Land,’’ “Union Maid’’ and “Roll On, Columbia’’ — died in 1967 after suffering from Huntington’s disease for 13 years. For much of that time, he was treated as an alcoholic, or confined in mental institutions. But in 1993, doctors identified the genetic mutation that causes the disease. That allowed them, in turn, to make a diagnosis through genetic analysis, rather than through a clinical study of the symptoms. Maher’s father, also named Frederick, had Huntington’s disease for 20 years, dying of it in 1991. But he was mis-diagnosed throughout his life, with doctors calling his disease multiple sclerosis or Alzheimer’s. Only after his death, when doctors did an autopsy on his brain, did they realize he had Huntington’s disease. Maher started showing symptoms a couple of years after his father’s death — first depression, then the propensity to stumble when he walked. Unlike his father, he has some income — he collects disability payments from his former employer in Greenwich where he worked as a computer programmer, and from Social Security. By now, the disease has taken its toll on Maher — he holds his head and hands at odd angles and has trouble speaking. But he’s on anti-depressants, which help control his mood swings; he’s also participated in drug trials at the Huntington’s Disease Clinic in New York, which is run as a Center of Excellence by Columbia Health Services at the New York State Psychiatric Institute. Staying active and mentally alert is one of the things Huntington’s patients can do to slow the progress of the disease; that’s why getting out via the town-financed handicapped bus transportation is so important to him. “It was bad once I learned I couldn’t drive,’’ he said. But once in the outside world, one of Maher’s main problems is that people — seeing his stumbling down the street, hearing him slur his words — think he’s drunk. He’s been stopped twice by the New Milford Police Department and once by the Danbury Police Department for public inebriation; eventually, when the police learn he has a chronic illness, they let him go. “I asked the Danbury Police what he should do — carry a cane? Wear a medical bracelet?’’ said Charlotte Maher. “They said it wouldn’t make any difference. It’s not a police responsibility to be a doctor. “Anger and frustration is a big part of what people with Huntington’s go through,’’ she said. “We were at the Bridgewater Fair one year and some woman said, ‘What’s his problem?’ I told her ‘People like you.’ ’’ That sense of the world being an uncomprehending place often makes Huntington’s sufferers unwilling to talk about their disease. “I know there must be other people around here that have it, but nobody talks about it,’’ Charlotte Maher said. Family members also face a tough decision. They now can be tested to learn if they carry the Huntington’s gene mutation, but that choice is a difficult one. Many people — including Maher’s 18-year-old son Eric — choose not to take the test, preferring uncertainty to the 50-50 chance of knowing what their lives may hold. “One of Fred’s brothers and one of his sisters don’t have any symptoms,’’ Charlotte Maher said. “They haven’t gotten tested. They’re OK and they don’t want to go down that road.’’ “It’s a tragedy for the families,’’ Tobin of UCLA said. But at the same time, Tobin said, those families have often spurred researchers to investigate the disease. “Today, scientists in molecular biology and genetics can go in just about any direction,’’ he said. “But I’ve met so many who have worked on Huntington’s disease because they been inspired by the families. They say ‘We’ve got to help them.’’’ Today, Tobin said, researchers have implanted the human gene mutation that causes Huntington’s disease into mice, and even individual cells. That means they can learn how the mutation causes the damage it does, then design drugs to stop, or even reverse it. “I expect to see clinical trials on some of these drugs within three to five years,’’ he said. “It’s a time of great optimism.’’ In the history of medicine, three to five years is a wink. But Frederick Maher has a different perspective — good days and bad days. And his daughter is making baskets to make those days a little easier, to make people learn a bit more about the illness that’s beset her father and her family. “I want to be doing something,’’ she said.
Anyone who wants to donate items to help Melinda Maher’s project for Huntington’s disease patients should call her at 1-860-355-3382 or contact her by e-mail at pips4ever88. Anyone looking for more information about Huntington’s disease can contact the Huntington’s Disease Society of America at 1-800-345-HDSA or visit the society’s Web site at www.hdsa.org. The Hereditary Disease Foundation can be reached at 1-310-575-9656 or at its Web site at www.hdfoundation.org The National Institute of Neurological Disorders and Stroke Web site is www.ninds.nih.gov Contact Robert Miller at bmiller@newstimes.com or at (203) 731-3345.
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Maher Family |
