Getting To Know Our Genes: A Personal Story of Discovery

_DSC1856-Edit.jpg

I will never forget the last time I saw my great- grandmother Connie, my granddad’s mom.  She was  in a nursing home, her body and mind destroyed by Alzheimer’s disease while my grandpa cried and my grandmother tried to convince her that we were her family and that she really did know us. I was only 12 years old, and it’s a memory forever seared in my brain.  Flash-forward 26 years and I’m in the one room assisted living facility that my grandparents shared due to the ravages of neurological disease.  Alzheimer’s Disease was now my grandfather's life, like his mother’s. Most days it was the same heartbreaking conversation “ Where do you live? How old are you?  What’s your name? That was until he couldn’t talk anymore.

It was during this time, that I made the decision to get genetic testing.  It had only been available for a few years at an affordable price, and with a little saliva in a cup and a few weeks wait I was on my way to learning more about myself ( I also had Pailey tested who was 3 at the time).  At that time, 23andme, was giving more than just raw data- they actually shared your percent chance of getting certain diseases, then ranked them in order of most severe to least severe. There was one box that you had to check and accept emotional responsibility for, basically they ask are you sure you want to know this?  I checked the box and the results on the next page confirmed my suspicions, I had one high risk Alzheimer’s  gene.  My grandfather died a short year later ravaged by the disease, and even though my father was healthy, I decided I couldn’t just wait for this to possibly be my fate.

FEAR IS STRONG, BUT IGNORANCE IS DEADLY 

Alzheimer’s Disease (AD) is the most feared diagnoses behind cancer, and at its current rate,  1 in 3 people over the age of 80 will die with it. The gene I was referencing above is called the APOE, of which there are 3 alleles: 2, 3, and 4.  In genetics, you get one allele from Dad and one allele from mom and end up with a genotype of either 2/2, 2/3, 2/4, 3/3, 3/4, or 4/4.  APOE has a multitude of jobs, but it’s most important is to regulate the aggregation and clearance of amyloid beta plaques in the brain, while regulating brain lipid transport, glucose metabolism, neuron signaling, neuroinflammation, and mitochondrial function.  APOE4 is the “high risk” allele, which means it’s doesn’t clean house very well,  and is found in higher rates of those with late stage AD (After age 60).  Around 20% of the population has at least one APOE4 allele, and around 9% have two. If you have one APOE4 allele,  statistics shadow a 40% chance of getting Alzheimer’s before age 80.  With 2 alleles, its a staggering 90% by age 70. Compare this to around 25% of the population without an APOE4 who will get the disease after 80.

I wasn’t surprised about my results, but I was heartbroken to discover Pailey had one allele too.   I had passed this death sentence down, and not only was she going to see me as I saw my grandparents, she too would experience it.  Scenarios played in my head, and even though I wanted to know this information, my first reaction was to stick my head back in the sand, ignore the findings, and pray we wouldn’t become statistics.

The one benefit of being a physician, I know ignorance can be deadly. I have worked for 10 years in brain health, including chronic pain and head trauma.  I have learned and trained extensively in brain function and behavior, and I knew the genetic implications that many neurological diseases have.  So instead of running from it,   I made the better decision to research and learn all I could about APOE and the different genotypes.  I looked at other risk factors such as insulin resistance, diabetes, infections, head trauma, and inflammation. I researched appropriate diets, associated genes,  and lifestyle factors for prevention.   I wrote about APOE, absorbed the current research, and followed current trends in AD treatments and medications. I read all the books I could on AD, coming to find that even with billions spent on this tragic and feared disease, nothing conventional was working. Conventional research implicates formation of plaques  in the brain (which APOE4 can create) , thus focusing on drugs to stop the plaques.  One etiology, one drug.   Truth be told,  it’s not that simple.  

KNOWLEDGE = PREVENTION

Recent research is emerging that AD is a process that starts decades before symptoms arise, whether or not you have a high risk APOE4.  During my Brain Health Coaching certification with Dr. Daniel Amen, I learned that imaging shows deterioration of the parietal lobes long before a person is old and sick.   When I ask patients to get their genetics tested so they can know their APOE status, they sometimes look at me like I’m crazy, but after I explain it to them, they can’t find out fast enough.  Knowing your genes is a powerful tool to transform your health and your future, just as important as consistent bloodwork and imaging.

If you have an APOE4 allele it’s important to know, this is not a death sentence.  Science is emerging that early detection and prevention is the key to whether or not you express certain traits of a gene.  Appropriate diet, movement, stress prevention, strategic supplementation, lifestyle modification, cleaning up infectious and environmental exposures will determine your future, so it’s up to you to address and fix them.  


WHATS THE CHICKEN WHATS THE EGG

I’m not exactly sure if my family history of Alzheimer’s is 100% related to the APOE4, but I also know they knew nothing about their genetics, and lived in a time of huge transitions in food and chemical production. My great grandmother raised 4 children during the depression which I’m assuming was a lot of stress.  She lived in a time before antibiotics, and two of her children suffered with polio. Chemicals were created at alarming rates and released into the environment, and the world had been through two World Wars.   My grandfather contracted polio, and was infected with West Nile Virus shortly before his symptoms started.  He was an athlete and played many sports including football, where helmets weren’t much,  and raised a family during the 50’s when processed foods were becoming all the rage.  He lived in an urban environment close to a freeway for most of his adult life, and he spent countless hours of his week on golf courses that were covered with chemical fertilizers.   His wife (my grandmother) was diagnosed with Parkinson’s Disease, as were multiple others on the block they lived on for over 50 years. He struggle with high cholesterol and weight in middle age, and it’s likely he has insulin resistance.   All great ways to make your APOE4 dirty.  

JUST SAY NO TO HEAD TRAUMA

If we look closer at one thing that is mostly preventable, and sometimes not, and can be a predisposing risk factor with APOE4 and AD - brain trauma.  Brain injury of any kind, whether severe or not, can increase your chances of Alzheimer’s, and other neurological diseases (ALS, Parkinson’s etc).  Evidence suggests that ApoE4 is associated with worse outcomes after moderate to severe TBI, mild TBI, and repetitive brain injury. The presence of at least one ApoE4 allele is associated with early mortality, prolonged coma, worse functional outcome, and an increased risk of developing AD, after TBI.   Luckily as a child I never played sports where head trauma was implicated, but I’ve had a few accidents, the worst being a severe mountain bike accident in 2004.  If I knew then what I do now, I might not have been flying down a single track at high speed predisposing myself to possible head trauma (which happened).  This knowledge means I won’t let Pailey participate in sports where head trauma is a potential, and helmets, seat belts, and education will be her best friends.   You may think this is cruel, but a decade of repeated head traumas could lead to a half century of problems...and AD.


GENES DO WORK, AND SO SHOULD YOU

I hope many of you listened to the HHH podcast #50 with Dr. Ben Lynch where he talks about Dirty Genes, and how genes do work.  If we overwork our genes, they will respond, if we give them a break, they will respond, and If we do nothing, they will respond.  From what I’ve learned in my own research about Alzheimer’s and the APOE4, it’s a lifetime of effects that make the APOE4 “high risk”.  Dr. Dale Bredesen, a researcher in Alzheimer’s Disease and author of The End of Alzheimer’s, has been proving in the last decade that cognitive decline can be reversed when you live according to your numbers.  Knowing your genetic makeup is very important, but it’s what your body is doing in real time that is vital.  Inflammatory markers, glucose, insulin, nutrient levels, etc is showing us what is calming or fueling the fire in your brain, which eventually leads to Alzheimer’s.  Are you eating too much sugar, not enough fat, too many empty calories?  Is your sleep horrible, and your nutrients depleted? Is your stress too high, your cortisol, blood sugar and insulin elevated?  Do you have an APOE4 allele?   All profound information that can change your future.   

YOUR GENETICS ARE NOT YOUR FATE

 Pailey age 3, around the time we were tested.

Pailey age 3, around the time we were tested.

Prevention is the key, and your lifestyle matters.  You don’t have to do a gene test, but it could help answer a multitude of questions, old and new.   When I did the genetic test I knew that it would reveal important information, but I had no idea how it would empower me to heal my brain, and change future outcomes for me and my children. When I push too hard, stay up too late, eat too much sugar, and don’t exercise, I know I’m not doing my APOE any favors, and that knowledge reminds me I HAVE to be diligent.  There is no way of knowing if I will get AD, but I’m going to do everything that I can to follow the science and the age old wisdom of prevention and not end up a statistic.  I owe it to my grandparents and my daughter’s, and I will do whatever I can to keep my brain in tip top shape. You have more power than you think, your genetics don’t have to be your fate.

 

How do I get my genes tested?  

 

Visit 23andme.com and order a kit.  Once you receive it, spit and send back.  Your info will arrive in a few short weeks.  

 

How do I interpret my test?

 

This is the harder part.  The test will give you ancestry (if you chose) and health traits, as well as raw data that can be searched.  I recommend using Stratagene by Dr. Ben Lynch to interpret medically relevant SNPs.  You will need to find a practitioner who is skilled in going over this with you.  Cost $35 for Stratagene, and a doctor visit or consult.  Visit See the Doc for more info.  

 

Interested in learning more about Alzheimer’s, APOE, and long term cognitive health and prevention?  Here are some phenomenal resources:

 

The End of Alzheimer’s: The First Program to Prevent and Reverse Cognitive Decline. Dale E. Bredesen, MD (An absolute must read if you have APOE4 and family history)

Change Your Brain, Change Your Life. Daniel Amen, MD

Dirty Genes.  Ben Lynch, ND

https://www.drbenlynch.com/ketogenic-diet-dirty-gene/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3726719


Download PDF format with sighted references here. 

 

Download The Ketogenic Diet, Genetics, and Nutrients by Dr. Hillary here!