SOUTH COAST — Sometimes not knowing you have a target on your back is better than knowing. But when you have a 50 percent chance of developing a fatal disease, not knowing if the odds are in your favor can be too much of a burden.
A presymptomatic test is a life-changing event and a very personal decision for family members affected by Huntington’s disease, a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems and, eventually, death.
Knowing her great-grandmother, grandfather and mother all carried the dominant mutated gene prompted Coos Bay resident Rebecca Ambrose to get tested.
“My family is devastated by Huntington’s disease,” Ambrose said. “My mother, three uncles and two aunts have Huntington’s disease. They have lost all ability to perform activities of daily living and are for the most part unable to speak, walk or communicate in any way.”
Ambrose, 29, is hoping to raise awareness of the disease, which is often misunderstood.
She found out about Huntington’s when she was 8 years old, in 1991 after a long-distance phone call with her aunt.
“Her speech was so slurred she wasn’t understandable,” Ambrose said. “I made a comment about it, at which point my mother had a discussion with me and my siblings about Huntington’s disease.”
Each child of an affected parent has a 50 percent risk of becoming symptomatic, usually in their mid-30s. Death usually occurs around age 50.
Unfortunately, Ambrose’s great-grandmother wasn’t diagnosed until her own son’s diagnosis. Her great-grandmother died of Huntington’s in 1982, after living in a nursing home for about 40 years. For many years she was diagnosed with Parkinson’s disease. Her grandfather died in 1985.
“But both diagnoses came too late for my grandfather and his brother to utilize the knowledge of Huntington's disease in their reproductive decision-making,” Ambrose said. “They had 11 children between them, some that were old enough that they already had children of their own.”
A teen mother at age 16, Ambrose graduated from Myrtle Point High School and then attended Western Oregon University. She now works at the Newmark Center on the Southwestern Oregon Community College campus as a human services specialist.
In 1999, after her son was born, Ambrose started wondering if she, too, carried the gene, so in 2000, she was tested.
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“I’d stay awake at night a lot,” she said. “I didn’t want to give my son the disease.”
It is almost unheard of for a minor to get tested for a genetic disease. Counseling is required. Ambrose received the test, but didn’t want to know the results until four years later.
“It’s a huge decision to be tested,” she said.
Ambrose’s test came back negative. Just last month, her brother, who also struggled with whether to be tested, found he was negative for Huntington’s.
Probably the most famous person to suffer from Huntington’s was Woody Guthrie, the prolific folk singer who died in 1967 at age 55. Ducks football coach Mark Helfrich’s mother also suffers from the disease and lives in a local nursing home.
Ambrose has arranged a showing of a documentary film about Huntington’s called “Alive and Well.” The film will be shown at 7 p.m. Monday, Jan. 20, at the Pony Village Theater. Tickets are only available online. However, there must be a minimum of 70 tickets presold by noon Monday, Jan. 13, for the event to happen.
Those interested can reserve their tickets at www.gathr.us/screenings/6506. All proceeds will go to the Huntington’s Disease Society of America, founded by Guthrie’s widow.
“In 2009, I became aware that there were several other families with this supposedly rarest of diseases, living right here in Coos Bay,” Ambrose said. “How we all never came across each other before might seem stunning, but given the desires for privacy and protection from the community at large, we were, in fact, unaware of each other.”
Ambrose hopes people will come see the film and learn about the disease.
“It is regretful that families in our area suffering from what has been called the most devastating disease known to mankind lack the ability to network with each other and do not have the support or understanding of the community, medical professionals, nursing homes or law enforcement,” Ambrose said.
“I think people need to be aware, especially in this community,” she said.