Isn't it Genetics?
I received the following comment from Aaron and it’s an important point I’ve been meaning to make. As biotech makes it’s way into our lives there is a growing tendency to attribute EVERYTHING to genetics. Thousands of times I’ve heard the fatalistic refrain: “Well, my parents had diabetes (or heart disease or you pick the issues) and I’m just PRONE to the problem…”
The part that people are focusing on is the disease process and not this “prone” issue. In this situation it means a certain likelihood of developing a given condition. Check out Aaron’s comment:
I also have porphyria (EPP which is short for Erythropoietic Protoporphyria, to be specific). EPP is an autosomal dominant point mutation (located on Chromosome I think). Thus, it is technically not an autoimmune disease, but a metabolic disease (leaving those with EPP 50% deficient in production of ferrochelatase (sp?), one of the precursor steps to the production of Heme).
However, since going primal (I still drink raw milk, eat cheese and other fermented dairy and thus am not technically paleo), and supplementing with 4-6k vitamin D3 daily, and taking fermented high-vitamin cod liver oil and high vitamin butter oil (a la recommendations of Dr. Price himself), my EPP is basically in remission. I used to be sensitive to the sun and had to avoid it for the most part. Now I can go out for more than an hour at noon and not get any reaction at all. I actually have to be careful not to sunburn! I’ve never had to worry about sunburn because worrying about EPP never allowed that to happen. I have to train my self now as a 40 year old to not get sunburned! So, even non-autoimmune genetic disorders can be modulated by the environment.
By the way, you said you’ve seen people put porphyria into remission. Can you point me to your information on those sources?
First things first, Thanks Aaron for taking the time to post a comment, much appreciated. Second thing…is porphyria a Genetic Disease? Terms like “Autosomal Dominace” could make one think we have slid into some kind of BDSM site! Well, check out this paper. Of particular note is this section:
“EPP is normally inherited in an autosomal dominant pattern with low clinical penetrance…”
That bolded emphasis is mine. Now, what the frack does it mean? Well, it means that there are people running around with the GENES for the disease (Damn me and my faulty genetics!!), but who do not HAVE the disease. Later in the abstract, the writer postulates that it is necessary to have some OTHR genetic issues to bring the disease into full expression. I have two words for that: Bewll Sheeeet.
Let’s run through the facts here:
1-Aaron (and one of our clients, Paula) HAD porphyria. In Paula’s case for over 20 years. Presumably they had the autosomal dominant inheritance (received the main “bad” genes) and if you are like most of the folks researching porphyria, you must assume some other wacky combination of genotypes that actually manifest in the disease, because, most people WITH the main “genetic problem” never manifest the disease. Geneticists are mistakenly trying to attribute EVERYTHING to genes. Ya, still with me?
2-So then Aaron and Paula altered their environment (food being the main issue here) and went into REMISSION. But wait a second…it’s a “genetic disease” they had it one day, not the next day…hmmmm…did we change their genetics?! Uh, NO. We removed the environmental insult that was the actual precipitating agent in the whole disease, in this case gluten and related grain lectins. A little google search shows some interesting linkage between porphyria and transglutaminase…the auto-antigen in celiace disease. Folks, you will be hearing a bunch about tranglutaminase in the coming months, in a staggering number of diseases. So Aaron, yes, this IS an autoimmune issue.
With the exception of a few conditions like Down Syndrome and PKU, damn near every “genetic” disease plays out like this. The genes need some kind of environmental que to manifest. And you know what the que typically is? Some kind of food or activity that is completely at odds with our hunter gatherer ancestry. Breast cancer is another great example. We have now “discovered” several breast cancer genes: BRCA-1, BRCA-2. The problem is people WITHOUT these genes GET breast cancer. People WITH those genes DON’T get breast cancer. What gets left out is the ENVIRONMENTAL interaction in the disease process. Stuff like inadequate sleep, low vit-d, skewed n-3/n-6 fatty acid levels and hyperinsulinism. Did y’all know taking a little aspirin reduces risk of breast, colon and prostate cancer? But then again, so does eating, sleeping and living in synch with our genetics.
The point I’m trying to make here is this whole “genetics” thing is bullocks. One of my best friends, Charles, is half black, half Pilipino. I’m Swedish and Scotish. If Charles and I stand in the Northern California sun in July who gets sun-burned first? Obviously, my white, pasty self. If we went past 45* north or south latitude who gets rickets first, me or Charles? Charles’ darker skin produces less vitamin-d from uv radiation. This is the same concept as porphyria and a host of other disease. A set of genetic potentialities that need the right environmental trigger to bring them into a disease state.