Processing Promethease (newbie intro)

[Anna]

I am a busy mom in my early 50's. I just ran my 23andMe data through Promethease only five days ago. I expected to see some risk of Alzheimer's disease, as my paternal grandmother was badly affected and ultimately died from it, and two of her daughters (my aunts) now clearly have AD. I had not heard of the ApoE4 gene and did not know it was possible to have such strong genetic risk, so I was in no way prepared to learn of my 4/4 status. I also learned that I am homozygous for a mild form of hereditary hemochromatosis -- an iron overload condition (not a risk factor, and actual inherited impaired ability to regulate iron absorption). To make matters worse, this H63D gene also leads to earlier onset of AD. Like most people, there were a number of other important things in the Promethease report, but it's a lot to absorb. Suddenly the MTHFR status that I found upsetting a couple weeks ago seems like nothing! Needless to say, my head is spinning.

The good news is I am already a bit of a health nut and functional medicine junkie, largely due to my autoimmune challenges, which are largely under control, except for ongoing fatigue and fibromyalgia-like symptoms (including some insomnia, brain fog, and generalized pain). I have been transitioning over the past decade to a mostly organic, veggie-intense, nutrient dense, reasonably low sugar/moderate carb diet that is high in healthy fats and mindful of appropriate quantities of protein. And my diet really never was the Standard American Diet. All of my basic labs have gone to normal (lipids, blood sugar, CBC, metabolic panel, etc). I frequently go on long walks but am not so great at the aerobic stuff.

I am so happy to have found this group! I'm not sure what I need, except perhaps some reasons to have real hope for my future. And to not feel so alone in this predicament. And to not burden my husband with too much doom and gloom discussion. My first mission . . . get an iron study (so no need to suggest that)!

[Stavia]

Welcome Anna. I know exactly how it feels to be blindsided by the red Promethease 4/4.
But now you are certainly amongst a community that cares about your physical and emotional wellbeing.
I have written a very basic intro about the least controversial strategies we can apply. Please ask if you have any questions or just want to talk.
viewtopic.php?t=1418

[Hepoberman]

Welcome to the forum! With normal labs at your age, you've obviously been doing something right. Congratulations! We may learn some things from you...

[SusanJ]

Welcome, Anna. I hear you that things like MTHFR don't seems a big as the other news when you see the E4. Looking forward to hearing more about your approach and ask away if you have questions. The basic intro that Stavia mentioned is a great place to start.

[Nancy]

Welcome Anna. I, too, am a busy mom about your age, and found out in July about my status. It's hard at first, but gets better. We're better off knowing so we can help prevent the AD. Because of your excellent lifestyle choices, you are already way ahead of the game. Stavia's primer is a great place to start on this forum.

[KatieS]

Welcome Anna. My 68 y/o 3/4 brother is homoozygous for hereditary hemochromatosis & I'm hetero, with a normal low ferritin. I just watch to not have added iron in vitamins. By choice, I have never eaten red meat or liver, but my oblivious brother eats still has not had any problems. Just note if your red cells are high (mine run slightly high),consider checking the iron stores (ferritin). There is an interaction of iron overload with AD but should the ferritin be high, it's easily treated. Since your liver enzymes are normal, I doubt your ferritin is that high. Think of this mutation as a benefit during your pregnancies to not become anemic.

[Anna]

Thanks everyone for your warm welcomes and support! I'm already calming down about the 4/4 status (well, maybe not so much the part about having passed this on to my kids; that part is just plain yucky). I am slowly working on reading Stavia's intro -- what a fabulous resource! And I've treated sugar like poison this week.

Can anyone point me toward research demonstrating that an AD-friendly diet and lifestyle will not only improve one's AD outcome, but will actually make put the odds of avoiding AD in one's favor, in spite of a homozygous ApoE4 status? I get that genetics is not destiny and also that there are no guarantees, but I don't have a good sense as to what the stats look like when the suggested dietary and lifestyle interventions are implemented. All I know is that the stats for 4/4 women without considering diet, blood sugar, etc are discouraging. I guess I'd like to have more than just a glimmer of hope

KatieS, thanks for the tidbits about hemochromatosis. The strong correlation of the H63D gene with AD makes my stomach turn! I actually had a slightly elevated serum transferrin saturation in 2008, and the hematologist I saw (for a different reason) was suspicious of hereditary hemochromotosis, but ultimately decided it was unlikely due to very normal ferritin on a followup test. Just to be safe, I have been very careful about not supplementing iron, so hopefully the faulty gene is not actually causing a problem. Interestingly, I was found to be anemic during all of my pregnancies, as well as when I was a teen and young adult -- not sure what to make of that! Everyone just assumed it was iron-deficiency anemia and told me to take iron. Anyway, I just made an appointment for Tuesday with the same hematologist.

[Stavia]

Anna, unfortunately there is no way you can quantify your individual risk accurately with versus without lifestyle interventions.
The best trials I know of are FINGER and MAPT.

My approach, as a 4/4, and yes I've gifted my sons a 4 each too, is to do my best and whatever happens I will have no regrets.
I'm not actually sacrificing anything - if I eat junk and don't exercise and sleep well, I feel crap and have brain fog. So even if I'm not preventing AD, at least I'm enjoying my life optimally right now and reducing my risk of cancer, heart disease and diabetes.
I'm almost 3 years ahead of you in this path - the first 6 months were hell. I promise it gets better. Promise.

http://www.thelancet.com/journals/lance ... 5/abstract


https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652787/

http://www.alzforum.org/news/conference ... y-dementia

[ru442]

What stavia said.... the first few weeks are tough as you work thru diet and exercise changes. Once you get in routine and start seeing results (i.e. weight loss or just feeling way better) things begin to get easier. Then when you get results from labs it gives you even more incentive to continue. Your on the right path... take your time and soak it all in, it will all start making sense

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[Anna]

Stavia, you are a blessing and an inspiration I just have to trust that I will eventually move past grief and perhaps even feel glad that I know my 4/4 status. Your promise is comforting. I skimmed the second study (need to re-read it when I'm more awake!) and read the third one (couldn't open the first one) and also finished reading your primer. I have come to the conclusion that although diet and lifestyle likely won't stop the underlying disease process altogether, it certainly has the potential to significantly delay onset and slow progression. And like you said, in the meanwhile, these lifestyle choices will dramatically offset other potential diseases. Perhaps I am lucky that I developed the autoimmune challenges that led me to make most of these changes already, beginning nearly a decade ago. I'm also a huge fan of nurturing a healthy gut microbiome (I don't think this was mentioned in your primer). I'm not so good at fasting or delaying meals (makes me feel sick), but I will eventually explore that option.

Ru442, thank you for your words of encouragement. Although I definitely need more aerobic exercise and still have room for improvement in my diet, I'm already about 80% there, have excellent routine labs as well as autoimmune labs, and no need for weight loss. Yet I have recently hit a wall with fatigue and brain fog, so clearly something still needs to be adjusted! That's what lead me to get genetic testing in the first place. Taking time to sort through it all is definitely a good suggestion.