May 2023 Newsletter | Genetics and Genetic Testing
My mission is to be the first woman in 4 generations to not develop Alzheimer’s Disease (AD). On my journey of discovering ways to mitigate my risk, I pass this information on to you in this Brain-Body-Health (BBH) Newsletter.
Somewhere around my 62nd birthday, I had a health emergent crisis aka a nervous breakdown. Until that time, I hadn’t thought much about Alzheimer’s Disease (AD). It was 2015 and my mother had just been diagnosed. One day I looked in the mirror and there was my great-grandmother, grandmother, and mother staring back at me. I thought…they all had AD. Did that mean I was going to get it too? My face didn’t lie. I could feel the fear and trauma from intergenerational AD. I recently saw a friend who shared with me her mother had died of AD. I asked her if she had been tested for the APOE4 gene, the highest known genetic risk factor. She looked at me and then quickly glanced away. I saw that same fear on her face when I had my breakdown. She quickly made her exit. It struck me then that I have run into this fearful expression before when I mention genetic testing.
Less than a decade ago, I knew nothing about the genetics of AD, let alone a test for it, and the University doctors where Mom was diagnosed frowned on getting tested. By then my brother, sister, and I had been caring for our parents for a few years floating down that river of De-Nile, barely managing their lives and ours. Meanwhile, I was still racking my brain as to why three generations of our mothers had developed AD. I felt like the story of the drowning man who refuses several rescue attempts in the face of approaching floodwaters, each time telling the would-be rescuers that God will save him. After turning down the last, he drowns in the flood. After his death, the man meets God and asks why he did not intervene. God responds that he sent all the would-be rescuers to the man's aid, expecting he would accept the help. "HELP! That’s what I needed NOW," I thought, but where could I get it? With the question came an immediate answer: call the Alzheimer’s Association Crisis Line. A kind woman answered. I can’t remember what she said and it doesn’t matter. I needed a good cry over my mother's diagnosis and this one seemed to last an eternity while the kind woman listened to my story of heartbreak in between weeping. The look in the mirror of fear, and the generational trauma all came tumbling out of me. This breakdown segued into my breakthrough in which Mom’s words came to me, “We will work it out”. Later when she saw my tear-stained cheeks, she stroked my face and said, “Not much has changed, darling. I just can’t be sure of anything.” That is when I searched, hoped, prayed, and realized God sent us science and scientists that developed tests, all kinds of tests eg., laboratory, radiologic, and yes, genetic tests to help us dismantle the effects of this terrible disease. At the time, 23andme did not offer the APOE4 test so I inquired into labs around the country eventually finding one that would do the tests for our family. I remember getting the results 6 weeks later. I took a deep breath before I opened the envelope. It was shocking but not really all that surprising. All of us in our immediate family had one copy of the APOE4 however my brother carried two. One copy of the APOE4 increases the risk of AD by 2-3 times, and 2 copies of the gene increase risk by 10-15 times. You can read more about it in the BBH Newsletter December Vanity Fair article. My brother who has recently begun having memory problems is currently in the Lecanemab study.
By 2017, I had closed my psychiatry practice and created Brain-Body-Health to focus on cognitive health and dementia prevention. Knowing the brain, heart health connection with the APOE4 gene, I recommended APOE4 testing for everyone in our program, which I continue to do. I am also a member of APOE4.info, an online forum of greater than 3,000 people supporting one another in disseminating research and other information regarding the implications of being APOE4-positive. For our family genetic testing broke through our denial and allowed us to become more proactive about our health and prevention of AD.
LESSONS IN COACHING
To test or not to test that is the question: This is a short online questionnaire to help gain clarity on whether genetic testing for APOE4 would be helpful to you. Videos, where people express different points of view illuminating various concerns, are helpful.
Speaking of tests: I was a little surprised when I received my blood test requisition from my functional medicine doctor specializing in brain health. At the bottom was the request for beta-amyloid and phosphorylated tau-181. Yes, now there are blood tests for B-amyloid and tau the 2 pathological markers seen on autopsied brains that define AD. I found that old fear beginning to rise. Did I want to know this? What are the implications if I am + for these markers? I am due for these tests in September when I turn seventy. I have some work to do.
Clients have been consulting me through my contact page about their 23andme test questions, not only APOE4 but also related to the information they are learning from genetic testing. If you're feeling confused about your test results contact me.
How safe are my genes when using direct-to-consumer testing (DTC): Passed in 2008, a federal law called the Genetic Information Nondiscrimination Act (GINA) made it illegal for health insurance providers in the United States to use genetic information in decisions about a person's health insurance eligibility or coverage. READ MORE>>
For more information on Coaching Sessions: Contact Dr. Betty for an appointment or call 707 272 3227
LESSONS IN SCIENCE
Blood tests for AD beta-amyloid and tau (phosphorylated tau -181) leads to early diagnosis and better treatment. Formation of beta-amyloid and tau begins 10-20 years before symptoms appear.
Parkinson’s Disease now can be identified via spinal tap paving the way for future early diagnoses, treatment, and blood testing.
Investigators have identified four blood biomarkers that could potentially be used to predict, diagnose, and monitor treatment response for post-traumatic stress disorder (PTSD).
The genomic classifying Decipher Test is utilized to alter treatment decisions that led to better outcomes. This classification was helpful to us in making treatment decisions following Jim’s radical prostatectomy. Read more in the BBH Newsletter November Unlikely Bedfellows: AD and Cancer.
When genetic tests are giving false positives for rare disorders. These prenatal tests are usually wrong.
Recommended viewing
The movie “Still”, chronicling Michael J. Fox’s life and Parkinson’s Disease effect on it.
To our optimized health!
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To our optimized health!