To Test for Genetics, or Not? Read On...

My wife had just turned 50 when she was diagnosed with early onset Alzheimer’s in 1997. Since then I’ve tracked untold blogs related to this disease while reading books and articles by the stack; I’ve listened to more than enough speakers; and I’ve heard an abundance of stories from friends and from those who follow my blog and have read my book. In other words, I’ve learned more about this disease than I can possibly remember.  

Yet only recently have I come across one of the most unusual books and stories of them all. The book’s title is descriptive though not unusual: Fighting for My Life: How to Thrive in the Shadow of Alzheimer’s. What I find intriguing is the conversation that unfolds with Jamie Tyrone, an unsuspecting victim of a crudely administered genetic test, and Dr. Marwan Sabbagh, a neurologist and leading expert in Alzheimer’s diagnosis, treatment, and research, who’s the Executive Director of the Cleveland Clinic Lou Ruvo Center for Brain Health in Las Vegas.

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I talked with both authors after reading their book, in which Jamie weaves her inspiring,  shocking story through insightful chapters by Dr. Sabbagh (sah-BAH’). Jamie’s story is a meaningful, telltale read. Dr. Sabbagh’s sections are professional and compassionate; and equally important, they are readable for the average layman like me.

For example, he notes that “…in the near future we may be able to consider Alzheimer’s a treatable if not curable disease. That would be a huge change. But you don’t have to sit and wait for it to transpire. There are things you can do now, much as Jamie has done. The latest research is a clear call to action. You can engage in preventive strategies…And you can start today. Don’t wait until you or a loved one starts showing symptoms.”  

Going forward, I won’t always distinguish the source of quotes and comments by Jamie and Dr. Sabbagh as being either from our conversation or their book. (In working on this post, Jamie and I have become long-distance friends, thus my referencing her by her first name.)

Be Careful What You Ask For
In 2008 Jamie, who lives in the San Diego area, had received an online request from a large hospital system in California to participate in a genetic study that wanted to investigate what Jamie, a career nurse, describes as a “simple but important” question: “If you knew that you had a genetic risk toward certain diseases, would you change your lifestyle to help prevent them?”

For 15 years, Jamie had been struggling with symptoms similar to multiple sclerosis (MS) but was unable to attain a clear diagnosis. Innocently—ignorantly, she might say today—Jamie thought this test could help clarify her situation.  

The report back from this genetic test indicated no underlying issues with MS.

However.

The report did say she has a genetic structure that makes her a high risk for developing Alzheimer’s—in fact, 91 percent susceptible. 

“Two sentences jumped out at me,” says this nurse who knew little about the disease. “There is no known cure for Alzheimer’s.” “As of yet, there are no surefire strategies for preventing Alzheimer’s.”

“No prevention. No treatment. No cure. I was beginning to feel like I had been given a genetic death sentence.”

While reading about Jamie’s unfortunate encounter, a chill crept up my spine. After several attempts at seeking help and direction from a Dr. Prescott F. Leyland, who led this genetic study, Jamie received this email: “I’ve done enough for you. Please don’t call me again,” this prominent physician and researcher wrote. (Dr. Leyland is a fictionalized name; Jamie’s account is anything but fiction.)

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Jamie, 49 at the time, was left cold, to say the least. As were my wife Martha and I two decades ago when we were told she has early onset Alzheimer’s. If you remember our story, the doctor breaking this news to us made Dr. Spock of Star Trek seem warm and cuddly—he was stiff, officious, and cerebral. Our world had not been turned upside down; it imploded before us.

As for Jamie, she plunged into depression and feelings of isolation, intermingled with thoughts of suicide. This lasted at least three years. “I had been in healthy denial about my chance of getting Alzheimer’s due to my family history, but that coping mechanism was forever stolen from me.”

Jamie ultimately emerged from her “dark night of the soul” through the compassionate help of professionals at two major clinics in Phoenix and San Diego and through intense week-to-week emotional therapy (to the tune of $40,000 or more), out of which she was surprised to learn she was the victim of PTSD (post-traumatic stress disorder).

Step by step, Jamie grew into a recognized advocate for Alzheimer’s and clinical research, and an outspoken activist for improved education with genetic testing. (More about this in a moment.)

Hello. I’m Marwan…Marwan Sabbagh
Jamie and Dr. Sabbagh met when both were on a panel at the Banner Alzheimer’s Institute in Phoenix. After telling her “tale of genetic woe and the initial lack of support,” Dr. Sabbagh “put his hand over the microphone in order to share a private exchange of words. ‘Jamie, I’m so sorry…We were introduced to the audience, but I don’t think you and I have officially met’ he said smiling and extending his hand.”

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Hearing later that Jamie wanted to write a book about her story, Dr. Sabbagh indicated he would like to do one with her. He’d written several books plus numerous research papers.

“I was impressed by Jamie’s story,” says Dr. Sabbagh. “While she was not the first person I’d met” with such a high genetic risk, “it’s highly unusual, and I admired her courage and honesty in standing up in front of an audience to tell her story.” (Only two percent of the U.S. population carries not one but two of the high-risk genes as Jamie does. It’s known as ApoE4, and two of them are commonly called 4/4; she inherited one from each parent.)

“I thought a co-authored book would be unique,” Dr. Sabbagh says. “There could be real value in a duality of voice” with Jamie’s personal story interwoven with his professional insight. (This former magazine editor and publisher agrees. Occasionally, I give a worthwhile book away, and I’m doing that with this one. More on that later.)   

Why Dr. Sabbagh, 53, got into this field of practice and research is in itself unique. “I grew up in…a family of doctors. By the age of eight, I knew that I, too, wanted to be a physician. My dad encouraged me, giving me a copy of Grey’s Anatomy for my fourteenth birthday. Four years later, at age eighteen, I started doing research in Alzheimer’s.”

I laughed out loud. I couldn’t imagine reading a book like that at 14 or doing such research at 18. But that’s why, among other reasons, Dr. Sabbagh is a leading researcher and physician and I am not.

Just why was he attracted to this “old person’s” disease at such a young age? “The answer is simple: fear of growing old is what drove me.”

Dr. Sabbagh, whose practice is divided somewhat evenly between research and patient care, is more hopeful about the prospect of combatting Alzheimer’s, or AD, than was possible when my wife was diagnosed two decades ago, which I realize today were still the “dark ages” for AD research. Martha participated in an experimental drug trial, which proved unsuccessful; she did no more.

An Ounce of Prevention
Although 99 percent of the clinical trials have failed, prompting several major pharmaceutical firms to drop out, Dr. Sabbagh is more hopeful today than ever for several reasons. He notes that although we’ve known about AD for a hundred years, 95% of all we’ve learned has occurred only in the last 35 years. “It’s a relatively new disease from a research perspective.”

New ideas, he says, are moving us closer to better diagnoses and ways to manage or delay the symptoms. For instance, he’s confident that a blood test will be developed in the next few years that identifies a person’s propensity for AD. Also, “I routinely and vigorously encourage my patients to adopt a healthier lifestyle.” Two of his chapters describe the importance of a nutritious diet and ample exercise, physical and mental.

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Yet Dr. Sabbagh is equally realistic. He emphasizes: “I separate prevention from treatment. Changes in lifestyle can help people at risk of Alzheimer’s, but, sadly, lifestyle changes are less likely to improve the condition of people already experiencing cognitive impairment or dementia.”

Dr. Sabbagh points to more and more studies that substantiate the importance of exercise, nutrition, and stress management on brain health and on the deferment of symptoms of dementia and AD.

What’s not been conclusive is whether such lifestyle intervention is of any benefit to those with a high genetic risk of AD, such as Jamie. But that’s changing. Just last week (the week of July 15, 2019) evidence was presented at the Alzheimer’s Association International Conference in Los Angeles that the pursuit of a healthy lifestyle would make those at high risk less likely to develop the disease. In fact, by 32 percent. The study by the University of Exeter Medical School (England) followed nearly 200,000 persons 60 years of age and older over an eight-year period.    

Says Dr. Sabbagh, who attended this conference: “The data is now stronger that genetic risk can be buffered. Lifestyle interventions showed strong signals.”

I asked Jamie if she was adhering to Dr. Sabbagh’s recommendations on nutrition and exercise. “Yes, for the most part I am, but I’ve been a little bit lax. I’ve known that they might help but I haven’t known by how much.”

“But this conference is a game-changer for me,” says Jamie, who also was in attendance.  “Now that I know the potential quantitative impact, I’m going to get more serious.”

Other lifestyle studies presented at the conference revealed potentially even more impressive results for healthy persons worrying about dementia and AD later in life.

I’ll wrap this up with just a few more questions…

Dr. Sabbagh, as I reflect on Jamie’s encounter with Dr. Leyland and on the doctor breaking the news to my wife, what do you say to a person who comes to you worried about the possibility of Alzheimer’s? 
I never do this as a hit-and-run. I explain to my patient what I’m looking for: “I’m worried about X-Y-Z and here’s what I’m testing for. These tests will either reinforce my concerns or not.” If my concerns are verified, I don’t just give the person the diagnosis and send them on their way. I offer to be their guide all the way through their experience…both the person with the diagnosis and their caregiver. They are scared. They want to work with people who understand this disease and its consequences. We at the Cleveland Clinic offer programs that support both the patient and the caregiver.

Why did you decide to become an Alzheimer’s advocate, Jamie?
My father, who’d been diagnosed with Alzheimer’s, and I were included in a CNN documentary that came out in January 2011. (Two years after her genetic test results). That’s when I went public with my 4/4 condition. Seeing the documentary made clear to me that my future lay in being an advocate. 

I started to cry, Jamie, when you met researchers who connected with you as a vulnerable person rather than some research object. Is that why you became a self-described “lab rat”?
Finally, I now had allies in this struggle to regain my life and my sanity—and to find some purpose in it. I wanted to learn as much as I could about AD and my prospects, but at 49 I was too young for many studies. The Banner Institute, however, was performing a long-term study with the Mayo Clinic in which I could participate. For those three days at Banner, I finally felt as if I was making a difference. And personally, I felt I’d also taken a step out of my despair.

And what is this B.A.B.E.S. you started?
It stands for Beating Alzheimer’s By Embracing Science. Knowing that women are most affected by AD due to incidence and the heavy burden of caregiving, our mission is to harness the synergy of women in the fight against AD. It’s a foundation through which I raise money and awareness for the needs of research.

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This is another path I’ve taken to emerge from my depression. My therapist told me: “So basically, Jamie, you’ve got a choice between a dark road and a bright road.” With my first fundraiser I hadn’t felt that kind of joy in a long time. It seemed as if the darkness was lifting. Things were going in a positive way. I liked this bright path! I felt like my old Jamie. We’ve now raised over $175,000 since 2013—either through direct donations or the facilitation of money to other non-profits. By the way, men are more than welcome to be a B.A.B.E.S., too.

Genetic or DNA testing has become a commercial enterprise today with companies like 23andMe and Ancestry.com offering their services to millions. You see their commercials all over the internet and TV. What precautions do you have for anyone thinking of taking these tests?
Dr. Sabbagh:
When it comes to Alzheimer’s, the question of whether you would want to know your risk takes on new meaning after hearing Jamie’s story. I would summarize with these few points: 1) First of all, take such a test only after consulting with a genetic counselor; 2) Be mindful of the potential consequences, good and bad. Be informed and be aware; 3) Taking precaution does not mean for you to be dissuaded from testing; knowing your risks does not have to be gloom and doom; 4) You can use the results of such a test to help you prepare today via effective lifestyle changes in your diet and exercise and stress management.

(NOTE: Dr. Sabbagh goes into detail with this question in his chapters ‘The Genetic Puzzle of AD’ and ‘To Test or Not to Test’.)

Jamie: Marwan and I are on the same page. Educate yourself about genetic testing before submitting to one. Work with a genetic counselor. Understand that your genetic status becomes part of your medical record; it is now discoverable when applying for Life, Long Term Care, and Disability insurance. Younger adults even in their twenties are becoming more interested in these tests; these tests are NOT impulse buys. Understand that these companies make very little money from selling you a test; most of their profits comes from selling their data—i.e., your data—to research and pharmaceutical houses. Remember, every company is subject to data breaches no matter how stringent the safety measures. So beware what you permit the company to do with your information.

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One last question, Jamie. With all that you’ve been through, with all the people you’ve been able to help, if you could go back ten years, would you volunteer for that genetic test again?
Jamie:
No.

Thank you, Jamie and Dr. Sabbagh, for all you’re doing and for the experience and insight you bring to bear on this mushrooming crisis called Alzheimer’s.

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As mentioned, I’m giving away one copy of Fighting for My Life. In its foreword, Dr. Michael Roizen, chief wellness officer at the Cleveland Clinic, says this: “If you want to understand the science behind Alzheimer’s and other forms of dementia, this book is for you. If you want to understand the choices you can make to delay or work toward preventing the onset of such dementia, this book is for you. And if you are interested in a powerful and emotional story of hope, this book is certainly for you.”

If you’d like to put your name into the hat for ‘Fighting for My Life’, here’s how:

  • Anyone is eligible, whether you subscribe to my newsletter or not. Simply send an email to carlen@carlenmaddux.com between this Friday, July 26 and Saturday, July 27, by 12:00 Midnight EDT. Indicate that you would like to be included in the drawing and put in the subject line: BOOK GIVEAWAY.

  • One of you will be selected at random from those entering. I’ll send you a congratulatory email on Sunday, July 28. You will have 48 hours to respond to my email. If I don’t hear back from you by then, someone else will be selected at random.

  • For more details, click Book Giveaway.

Thank you,
Carlen
www.carlenmaddux.com
carlen@carlenmaddux.com

PS1 As usual, feel free to forward this post to your friends and family. If you’d like to sign up for my blog, there’s no charge; just click here.  

PS2 An inexpensive way to support the end of this disease is to buy several sheets of the Alzheimer’s first-class stamps at 65 cents a stamp. The net proceeds from its sales go to the National Institutes of Health for Alzheimer’s research. As of June, over 6.9-million stamps have been sold, raising $935,000. Join me and thousands of others to Help Stamp Out Alzheimer’s.

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PS3  My book, A Path Revealed: How Hope, Love, and Joy Found Us Deep in a Maze Called Alzheimer’s, can be ordered from any bookstore or found on Amazon. I share our family’s 17-year odyssey of living with this disease. My high-energy wife Martha was 50 when diagnosed; I was 52. Our children were still in high school and college. But Alzheimer’s is not the focus of our story; it’s the context. The focus is the spiritual odyssey that unfolded before us, sometimes in strange and surprising ways, other times in the most ordinary of ways.

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