23 and Me Review
Refferal Link at the bottom of the article for you to buy your own 23andMe test!
I have had such difficulty obtaining genetic testing for a wide variety of concerns. My geneticist was completely mystified when I made an appointment earlier this year to go over genetic testing from 23andMe. He was livid that I “went behind his back” and then went off on me, “I don’t think you have anything else wrong with you.”
Well, he’s incorrect - to put it nicely.
You see I have been experiencing severe abdominal pain and other alarming GI and Neurological symptoms my entire life. So did my father, and many of his family members. My paternal grandfather had four other brothers and they all passed away from suicide, suicide due to chronic pain, or substance abuse. Since my father is no longer in the picture, and I have reached out to him with no response, I have no further recourse other than genetic testing.
Problem is, despite the ER trips, the specialist trips, and the countless hospital admissions, my insurance has always denied further testing for genetic based diseases. I had to pay cash out of pocket to get my Ehlers Danlos and Connective Tissue blood panel done. Thank heavens my doctor has his own lab, and we were able to confirm I do not have any life threatening types of connective tissue diseases.
So I began to search for my own avenues to purchase the testing I wanted. There are websites where you can buy your own lab tests, genetic testing services, and genomic analysis programs. One of the best known programs is 23andMe, so I gave it a try!
So let me be the first to tell you that it was worth its price of $199 for a more extensive profile. I am also a subscription member to their 23andMe+ program with further health analysis and on-going support and monitoring. 23andMe also gives you the option to download your raw genetic data to use in other Gene Analysis programs such as Promethease, and LiveWello. Both programs I am also a paying member for, and were excellent to analyze the genes 23andMe doesn’t cover but still gathers during testing. However, in most cases 23andMe will be perfect for the average consumer! However for those with chronic health conditions, it may leave you wanting more information that is not available without considerable effort. For reference, I spent over a month categorizing and cross checking with ClinVar the mutations I found in the raw file that did not come up in the app. The mutations that do no appear natively in the app the company does warn that they do not check for accuracy and will require further investigation with your health providers.
As a consumer of genetic tests it is important to remember that genetics is as much a science as it is an art form. It is also much more complicated than we were taught to believe, and it's in these complications that we now realize a lot can happen. Epigenetics is the formal term for the complications above and could look like your great grandmother experienced severe trauma that resulted in herself being verbally or physically abused. Epigenetics believes that this trauma can trigger damage or change in DNA that can be passed down genetically. Other events like regularly drinking excessively, not using sunscreen or UV protective clothes, head trauma, cancer and consuming excess caffeine, are all just as likely to cause epigenetic changes as well. Anytime something damages the DNA in your body according to this field, could trigger an epigenetic change. However, they also stress that not all changes are bad, as they believe making good health choices and protecting yourself appropriately from unnecessary DNA damage, can have a positive epigenetic change such as reducing the risk of anxiety, mental health disorders, cancers, and even food allergies. If you’d like to learn more about Epigenetics check out my link tree for some resources!
However, it was very insightful for me! Here are some screenshots of my results:
So let’s unpack this first screen, which you will see when you look at your health related genetic results. Everything on here has been clinically confirmed for myself, and is present in our family history already. So the late onset Alzheimer’s, and macular degeneration were expected. I already had a positive HLA test at my GI office so the. Increased Celiac risk was already confirmed and since starting a gluten free diet I have gained weight and my nutritional deficiencies improved dramatically. For the Gout, it was also expected since my father had suffered from it and my maternal grandfather had ascending gout. As a child, my grandparents' cholesterol issues began so I was informed I likely had the gene for excessive good cholesterol production!
So this brings us to the last two results: Hereditary Hemochromatosis, and CYP2C19. Hemochromatosis (HFE) is a sister condition to porphyria and in most cases a HFE mutation is present and predictive of Porphyria cases. HFE mutations also display nearly identical symptoms to Porphyria Syndromes. So I know that I need to be mindful of my protein intake (reduce it) and carbohydrates (increase to protect my red blood cells from rupturing). I also need to be mindful about any infection I could obtain as infection is a trigger for both porphyria and hemochromatosis crises. Hormones are also a well established trigger, and thankfully my Mireya IUD has been steadily calming my hormonal symptoms.
So that last item, the CYP2C19 was an amazing find. I have struggled to find a GI regiment that works to reduce my symptoms. As this gene is a drug matabolism mutation my reports on efficacy for medications finally began to be validated. I have tried Famotidine, Cimetidine, Ranitidine, Phenergan, Reglan, Zofran, Tigan, Compazine, Scopolamine, Bull Intestine Enzymes, Aloe Vera Supplements, Peppermint Oil, Tums, Benadryl, Ativan, Bentyl, Tizanidine, Electric Biofeedback, huffing alcohol swabs, probiotics, prebiotics, Erythromycin, Protonix, Claritin, Pepto Bismol, Papaya Extracts, and medical marijuana. Often even in combination! There would be times where I would need a scopolamine patch, and up to 40mg of Zofran (any higher and I would need to call into my GI for clearance to take more) per day in flare ups. Gastroparesis is a tricky diagnosis and for a long time I was considered stable taking Ranitidine and Zyrtec. When the FDA revoked ranitidine’s clearance from the U.S market I was devastated because it worked 100% effectively for me, and nothing else quite worked as well as it did. Famotidine (Pepcid) and Protonix are drugs that require the CYP2C19 to work. However, since mine is a “rapid metabolizer”, my body eats through the medication before it can take effect. It basically renders it useless because there is nothing left for my body to use. Even IV, the medications could never reach a therapeutic concentration. I explained this verbatim all throughout my childhood, and teenage years. It was amazing to see that indeed my gut feeling was accurate!
This next page is one for 23andMe+ members, and again I can confirm their accuracy as I have had allergy testing completed for animals within my environmental allergen panel. I have always been severely allergic to cats, they’d trigger my asthma, and make my eyes swell to the size of golf balls, and anywhere they’d touch me would erupt in a red itchy rash. Dogs, while I did show positive on both genetics and traditional allergy testing, I have always had a dog and have never had any issues, but I have exposed myself so much since infancy that I potentially have developed some resistance/tolerance to the allergy. That and I have my dogs on a salmon food diet, brush & bathe regularly, and brush out their undercoat monthly to help reduce skin dryness and dander. My big working girl Dolly has a short hair coat which is more hypoallergenic than Ellie who is a chocolate lab and is multi layered long haired. Still no problems!
So the other two items here are caffeine and diet. I have never been one to enjoy caffeine per say until very recently, as in my family it tends to act more like a sedative than an attention granting stimulant. My father would have panic attacks and sensory break downs that could only be soothed by a Starbucks Venti Black and White Mocha with 4 add shots of Espresso to calm back down. My mom, at her worst she would drink up to 10 or 12 Starbucks Venti Awake (Royal English Breakfast) Tea with milk and two sugar (about 200mg caffeine each). So to say my family are caffeine junkies is an understatement. I tried both, and I preferred the foam from the mocha and never really got into the Starbucks tea crowd. I don’t like drip coffee, and only recently I have started having the occasional Starbucks Coffees and Portuguese espresso drinks. Since moving in with my partner, I have begun to drink Lipton with milk and a boatload of sugar. However, I kinda treat caffeine like alcohol, moderation is key! So maybe yes, my genetics are accurate that I prefer having a smaller drink with a higher caffeine content when posed with the option.
In terms of diet, I absolutely do weigh more on a diet higher in saturated fats. Since I have learned how to home fry, I have been conscious of my fat intake. Being on artificial hormones also slows my metabolism considerably while making me crave that deep fry taste (along with many others!). So when I eat high carb, low protein, and low fat, I am able to drop weight like nobody’s business. However, because of the porphyria concerns since 2018 I have been following a prescribed attack preventative diet where about 80% of my daily caloric intake is dedicated to carbohydrates. I vary my carbohydrates too between breads, cereals, fruits and veggies, so I do eat relatively healthy! I aim for low processed food intake, keep my meats lean and in minimum quantities, and for the most part home cook my meals. So again, I am agreeing with their genetic determination.
Ancestry Package
23andMe has many wonderful features unique to each individual consumer. I don’t want to spoil the potential wonders your results could hold! So let’s move onto the second part of 23andMe’s $199 package: Ancestry!
My ancestry was really wonderful to see! My family has trickled down to a diverse and sparse unconventional unit. My aunt has worked countless hours trying to trace our family back to its roots beyond the “Your great great great aunt was a seamstress to the queen and that's why our whole family likes tea.”, story. We suspected a more Northern European lineage and my ancestry results further support that.
What I did not expect to see however was a very small percentage of Askenazi Jew ancestry. Historically, the level of ethnic eradication through the Holocaust greatly limited the reproductive potential of the group. Ashkenazi Jews also have a very high risk of genetic disorders and medical complications. While the low percentage is unlikely to be enough to cause genetic issues 7 to 8 generations down the line, it was enlightening because no one in my family has recent memory of any Jewish family member. My family before me, meaning my ancestors, definitely kept secrets to ensure safety and survival and my grandmother never spoke about her grandparent’s grandparents and it was impossible to meet them. That is how far back we would have to look to find anyone with some relation to the Askenazi group. My grandmother was a truthful and god loving Christian who preached honesty and integrity, so I believed her when she would say that she didn’t know. I chalk this up to a new an interesting find in the family, but rather something very very small and incidental.
I also suspected a larger French and German percentage because that is all we knew for years and had geographically pinned our origin story there. I also expected a larger Native American percentage from the stories and information I had been told as a child. I expected to see between 10-15% Native American. I have 0.10% Indigenous American ancestry instead!
I have no way really other than the ancestry we’ve been able to confirm however it doesn’t go as far back as a genetic deep dive can. So, at face value I will assume their analysis is correct as what I can verify does indeed match.
Overall Review and Summary
Despite my challenging genetics I am so happy to be who I am. My genetics have shaped the way I encounter the world in more positive than negative ways. While many find the level of self analysis I have gone to as self aggrandizing or self sabotaging, I fully disagree. I believe that people can intrinsically tell when something is wrong within their body, feel out of place, or feel they experience the world in an atypical manner. I also know that most people do not have the advanced education and personal experience to be their own advocate; so I am aware of how incredibly blessed I am. When I reflected on that, my mom and I realized that without her medical training my brother and I would have likely not survived childhood.
One last topic on 23andMe, when you go into your ancestry tab you have the option to allow your profile to be public so others you are related to can find you and match. When my parents divorced, and my father left the picture, we were left with many unanswered questions in terms of his side of the family history. I wasn’t expecting to match with anyone to be completely honest. So you can imagine my surprise when 23andMe said that they found an aunt on my father’s side I could match with! I hadn’t spoken to her since I was a young child and for six months I would message her on the app asking to connect. Being my dad’s biological sister matching with her would give the 23andMe algorithm more information about my health and ancestry. Since I had been diagnosed with Ehlers Danlos Syndrome I have attempted to reach out to my father and his side of the family without much luck. They needed to know so they could get screened and checked themselves. I also know that my father had another child with his new wife, making her my half sister. She’s at risk too, and the pain and mental anguish I experienced as a child could have been helped had we known what was going on. After six months of unanswered messages I was elated when I finally got a response and I am set to speak with her further after she gets her bearings and feels comfortable speaking to me. From what I can gather, my father’s side of the family has fallen apart as my father’s brother and sister moved away for their own families. I am even further surprised to learn that my aunt and I both have the same cardiac condition called a Patent Foramen Ovale, or PFO. So while we both have literal holes in our heart, they are full of love and caring hopes for our families in the future.
So if you ask me, purchasing a 23andMe health and ancestry kit was an excellent way to spend $199 and gave me more information at a cheaper price than if I asked for them all to be run separately from my doctors office.
So are you looking for answers for your health? Looking for tangible evidence that can guide you to make good life choices? Curious about how your body responds to medications? Then 23andMe is for you my friend!
Feel free to use the hyperlink below to use my referral to purchase your own 23andMe kit! Happy hunting on your health journey my friends: Kronic Kate 23andMe Referral
