Feb 16, 2015

Why I Got Genetic Testing For Alzheimer’s, Why You Might Not

By Elaine C Pereira
Alzheimer's Reading Room

Forget ME Not | Alzheimer's Reading Room

My mother died from Alzheimer’s in July 2011. The death toll, which is already too high, is projected to rise with no real treatments or cure currently available.

Anyone who follows what’s trending in Alzheimer’s research probably has read countless articles toting the latest findings, links to certain foods, environmental factors and of course genetics.

Although research continues to make headway, until there’s a proven cause and cure, it’s a scientific work in progress.

 In my professional opinion, as an Occupational Therapist with a concentration in neurology, I question the role that one Alzheimer’s gene can play. There are too many other complex and overlapping variables.

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Mysterious Aunt Elizabeth

As my mother’s Alzheimer’s advanced, she told me one day that she had an Aunt Elizabeth who had Alzheimer’s too. Genealogy confirms that Aunt Elizabeth was real and not just a figment of my mother’s dementia tainted imagination.

Great Aunt Elizabeth may have had dementia and possibly even Alzheimer’s, a term along with senility that was used indiscriminatingly years ago.

From I Will Never Forget, CHAPTER 28, The Ugly Truth
Mom admitted, “I know I’m having a lot of difficulty remembering things, Elaine. It’s terrible knowing you’re not with it sometimes. I hope that if this is genetic, your brothers David or Jerry inherited this gene and not you.”

I Will Never Forget | Alzheimer's Reading Room

Is It Really in the Genes?

At my presentations and book signings I’m often asked if Alzheimer’s is genetic. I defer responding if there is a representative from the Alzheimer’s Association or geriatric specialist in the audience. But they consistently site “genetics as the greatest single link over other specific factors.”

Couched neatly under the veil of innuendo, that answer raises a lot of questions for me. Years from now – hopefully not decades – when researchers pin point what really causes Alzheimer’s, I’m convinced genetics will play a role just like one’s family history does in every medical condition, but it will not be the “scientific smoking gun.”

A quote on a picture frame, of all things, reflects my views: “Siblings are different flowers from the same garden.” “Different” is the operative word as siblings do NOT have identical genes.

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Genes and Genetic Expression

Despite all of this conflicting information, I voluntarily underwent genetic testing a year after my mom’s death, primarily out of curiosity. I was not surprised given my family history, that I have 15% chance of having Alzheimer’s vs 7% for the general population. I also did the testing for a future baseline as more sophisticated and/or more genetic markers are discovered.

It’s critically important to understand this fact about genetics: Having the gene and having the gene express itself are not the same. An excellent, albeit tragic, example of genetic expression is Huntington’s Chorea.
Huntington's disease is caused by a changed or mutated, gene. If you have a parent with the disease, you have a 50% chance of getting the changed gene and the disease.”
Translation? If you have the altered gene, you will have Huntington’s Disease.

Too Many Variables
“Few researchers think that the search for Alzheimer's genes is over. Most investigators are convinced that there are many more genes involved in Alzheimer's disease and, moreover, that other conditions must also be present for the disease to develop.”
This pretty much says it all. We just don’t know enough yet to make absolute statements. In my opinion, don’t waist your money on genetic testing for Alzheimer’s unless you’re also curious. And then don’t over think the results if they are unfavorable, or break open the champagne if you’re deemed to be genetically free of Alzheimer’s.

Live by Dr. Tanzi’s statement: “What’s good for the heart is good for the brain.” Eat healthy, stay active, be socially engaged, keep your priorities straight and enjoy life!

My mother followed all of these and died from Alzheimer’s anyway, but…

Mom “knew her memory was weakening…She walked and walked so she could strengthen her mind because there was a history of Alzheimer’s in her family and she wanted to beat it.”

There was no way to know for sure, but I wanted to believe that perhaps her generally good physical health reinforced through her daily treks about the Village complex and the Woods, her lifelong success with weight management, and her bright, positive attitude had at least stalled the ravages of Dementia.”
From I Will Never Forget, CHAPTER 28, The Ugly Truth

*Elaine C. Pereira is the author of I Will Never Forget, an Award-Winning, Best Selling memoir. She donates from each book sold to help support Alzheimer’s research.

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