This year has been a wonderful exception to that trend. Three people who have courageously documented their lives after discovering they are gene positive for mutations that significantly increase their risk for developing Alzheimer’s disease. Among them is June, a 57-year-old who found out she had a genetic predisposition after taking a 23andMe test. A longtime cancer researcher, Wendy Nelson is a 54-year-old biotech PhD. She’s at even higher risk because she has two copies of the APOE4 variant. David Watson, a neuropsychologist and CEO of the Alzheimer’s Research and Treatment Center in Florida. For nearly 25 years, he’s known he carried that genetic burden.
This particular variant of the APOE4 gene is very risky. If you inherit two copies, you have a staggering 60% chance of developing Alzheimer’s by the age of 85. Alarmingly, just 2% to 3% of the U.S. population possesses this genetic profile. The majority aren’t even aware they carry it, as they have not been genetically tested. Read on to find out how these folks have turned their diagnoses into action. It’s a testament to their tireless work to one day eradicate this terrible disease.
The Personal Impact of Genetic Testing
After accepting her diagnosis earlier this year, June was immediately required to make major lifestyle adjustments. After learning she had the APOE4-4 genotype, she chose to stop consuming alcohol. She began taking a new cholesterol medication to help protect her heart.
“People with our genotype are almost destined to get the disease,” – June
She was particularly worried about the premature onset of symptoms due to her genetic predisposition.
“We tend to get symptoms 7 to 10 years earlier than the general population, which means that I had about seven years left before I may get the disease,” – June
In her quest for better brain health, June is participating in a study that examines whether four months of vigorous mental and physical exercise can benefit individuals aged 50 to 85. Yet, she continues to be optimistic that through meaningful engagement things can improve.
The Role of Research and Advocacy
Wendy Nelson has advanced science and healthcare on her part, too, after discovering her genetic profile. In addition to advocating for more treatment options, she recently testified before the Food and Drug Administration (FDA), sharing her experiences and urging officials to consider drugs that could benefit individuals with the APOE4-4 genotype.
“I provided my seven minutes of testimony to the FDA, which was my plea for more options,” – Wendy Nelson
Nelson’s frustration is palpable as she reflects on the current lack of effective treatments available for those with her genetic risk, stating:
“because I don’t feel like I have anything out there right now.” – Wendy Nelson
Her advocacy efforts successfully exposed the need for greater research into alternative Alzheimer’s treatments. They further demand more funding to create possible antidotes focused on people with certain genetic vulnerabilities.
Current Treatments and Recommendations
Together, they worked for years on cutting-edge research into the brain mechanisms behind Alzheimer’s disease. He’s particularly interested in developing an experimental drug for people who carry two copies of the APOE4 variant. This drug, developed by Alzheon, aims to interrupt the process leading to amyloid plaques—a hallmark of Alzheimer’s—rather than attempting to remove plaques that have already formed.
Watson says lifestyle choices are just as crucial in managing your risk of Alzheimer’s. His research points to both cognitive engagement and physical activity as the strongest protective strategies against the onset of symptoms.
“Any of these things that we can do preventively, they’re going to be helpful,” – David Watson
Specifically for a person with Dubuc’s specific genetic profile, he warns about the use of extremely aggressive treatments.
“If someone is APOE-4-4, they should probably should not go on a monoclonal antibody targeting amyloid,” – David Watson
Monoclonal antibodies such as lecanemab and donanemab have recently achieved success in clearing amyloid plaques. They can induce deadly side effects in people with a genetic predisposition.
A Holistic Approach to Health
The trio of honorees underscore the value of a comprehensive approach to health. They caution against ignoring the factors of diet, exercise, sleep and stress management. It’s true that a Mediterranean diet combined with regular physical activity is thought to have beneficial effects on brain health.
As they navigate their unique journeys, these individuals are not only advocating for themselves but are serving as voices for others who may be unaware of their genetic risks. Together, their stories underscore the urgent need to expand access to genetic testing and improve individual capacity to manage health proactively as part of the fight against Alzheimer’s disease.
