Sharon and her sister Sandra worry that they may inherit the mutant gene that caused Alzheimer’s disease in their mother. Sharon wants to be tested and find out. Sandra doesn’t.
Being at odds over whether to know or not know is a personal decision that affects many children of adult parents with the disease. The number of people with Alzheimer’s, a leading cause of death worldwide with no cure, is growing. According to the Alzheimer’s Association, an estimated 5.4 million Americans of all ages have the disease in 2016. The majority of that number (5.2 million) is 65 and older.
“We started noticing signs of the disease in my mother when she was in her late 50s,” Sharon said. “Most people think it’s memory loss. It’s a lot more than that. Yes, she was forgetful, but she was also confused and angry.”
Sharon remembers her mother with a happy-go-lucky disposition. “That was before the onset of the disease,” she said. “I want to have the genetic testing done because I want to see what steps I can take to delay the process — if any. My sister wants no part of knowing. We both witnessed how Alzheimer’s robbed our mother of her personality and her well-being. It’s a cruel disease.”
Their mother had early-onset Alzheimer’s, which occurs in people between the ages of 30 and 60. Early-onset represents less than five percent of all people with Alzheimer’s. Most people have the late-onset form of the disease.
Researchers have identified single-gene mutations that cause early-onset. These genes can cause abnormal amyloid proteins to form, which accumulate in the brains of people with Alzheimer’s. About half of the children of parents with early-onset Alzheimer’s carry the one or more of these gene mutations.
While late-onset Alzheimer’s is more common, the likelihood of inheriting this form from a parent is lower than inheriting early-onset Alzheimer’s. Scientists have not found the gene that directly causes late-onset Alzheimer’s. What they did discover in the late-onset form was that one genetic risk factor — having one form of the apolipoprotein E (APOE) gene on chromosome 19 — does increase a person’s risk of getting the disease.
Regardless of the results, Sharon wants to be tested because she firmly believes that knowledge is power.
Heather Snyder, the senior director of medical and scientific operations at the Alzheimer’s Association, agrees. “In a recent report from the Alzheimer’s Association, we found that only 45 percent of people with Alzheimer’s, or their caregivers, were told by their physicians that they had the disease,” she said. One of the reasons healthcare providers most commonly give is not wanting to cause their patient emotional distress. However, studies have explored the issue and found that few patients become depressed or have other long term emotional problems after finding out they have Alzheimer’s.
Still, Snyder thought that percent was disturbingly low, since her organization believes all patients and caregivers have a right to know. Synder said if you or a loved one suspects having Alzheimer’s, you should talk to your doctor. Early detection, she said, allows you to:
She also said that if you’re a family member or a close friend of someone who is diagnosed with Alzheimer’s, you can become that person’s advocate.
Snyder also remains positive that people may be able to delay the disease by changing some behaviors and taking the following steps:
Taking what we know about the disease and tailoring treatment to one’s genetic makeup can shift treatments from reaction to prevention. With hope that a cure is soon to come, Sharon plans to take the test. “The expectation I get from personalized medicine is positive,” she said. “Having treatments that are designed for me gives me hope for my future.”
August 10, 2016
Christopher Nystuen, MD, MBA