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Breakthrough Gives Hope to O.C. Mother

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TIMES STAFF WRITER

Carrie Statkus, a 24-year-old Brea homemaker, worries about herself, but even more about the future of her 6-month-old daughter.

It was shortly before her daughter’s birth that Statkus learned that her own father’s mood swings foreshadowed the onset of Huntington’s disease.

She also learned that her estranged paternal grandfather was in a nursing home dying of the same disease, which is passed from parent to child, attacks the brain and robs a person of muscle control and dignity.

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“It can be very, very scary,” Statkus said, recalling how her 67-year-old grandfather in the end could not speak or swallow and thrashed in his bed.

Statkus, who currently awaits the results of blood tests to determine whether she may fall victim to Huntington’s disease, was brushing her teeth Tuesday morning when a friend called to say that scientists had finally found the mutated gene that causes the disease.

“I am absolutely thrilled to death. I wasn’t expecting this,” said Statkus. Like others intimately familiar with the fear of Huntington’s, she is hopeful that the breakthrough will speed research of a cure or at least a means to delay the onset of the disease.

The most immediate result of the finding, scientists say, will be the development of a quick test that will tell conclusively whether an at-risk patient will ultimately suffer from the disease, which usually emerges between the ages of 35 and 45. Anyone with a parent who had the disease has a 50% chance of inheriting it.

For the last decade, people at risk have been able to send samples of their blood and that of relatives to a genetic laboratory to determine if it contains a “marker” for the disease. The marker is a piece of genetic material that is not the culprit gene but is “close” to it, scientists explain.

The marker test’s reliability is in “the low to the high 90% range,” said Dr. Stephen Cederbaum, a medical geneticist at UCLA. By contrast, he said, the new test developed with knowledge of the Huntington’s gene will be 100% accurate.

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Also, in the past the death of family members or their refusal to provide blood samples has prevented some people at risk for Huntington’s from being identified as potential victims. Now, however, individuals’ conditions can be diagnosed with only a sample of their own blood.

Cederbaum predicted that the availability of an easy, accurate test will place “an enormous burden” on children of Huntington’s victims who must decide whether they want to know their own fates.

David Cox, a counselor with the Orange Caregivers Resource Center in Fullerton, which sponsors a support service for victims of the disease and their families, doubted that there would be a rush for the new genetic test.

Cox noted that only 17% of an estimated 125,000 people at risk for Huntington’s disease in the United States have opted to take the marker test, mostly because “the diagnosis can be very crushing.”

A number of people at risk for the disease tempered their enthusiasm Tuesday about the discovery with concern that it could be used against them in medical and life insurance.

Nonetheless, Cox, who spent much of Tuesday calling support group members to tell them about the gene’s discovery, said that the mood was mostly joyful.

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“Everybody I have been calling is really excited and breathless. They believe they have been given a new chance,” he said.

Robin Bolster, 31, of Pasadena, whose mother has Huntington’s, said the discovery is giving her courage to find out whether she, too, will have it.

Noting that her mother began showing signs of the disease when she was 38, Bolster said, “I have hope that between now and the time it would affect my life personally, it is likely that some sort of treatment will be available.”

Her cousin, Kathy Bolster, a stockbroker sales assistant who lives in Arcadia, said her mother died after an 18-year battle with Huntington’s, and there are no surviving relatives in her mother’s generation. So until now she has not been able to get tested as a carrier.

Even when a new diagnostic test is available, Bolster said she does not expect to take it. She merely keeps hoping that the debilitating disease, which already has struck her younger brother and sister, will miss her.

Bolster, who is 47, said she has already made her important life decisions, including having two sons, but she expects that her sons may want more certain information about their own medical fate before deciding to marry and have children.

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Christiane Rini, 20, of Huntington Beach said she has been writing a screenplay about the difficult decisions facing offspring of Huntington’s disease victims.

Rini, who helps to care for her 48-year-old mother, who started showing symptoms of the disease eight years ago, said: “It is hard living every day and being young and trying to make decisions like whether to marry and have children.”

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