Friday, March 02, 2012

So why do I have Beckwith-Wiedemann Syndrome?

I sort of glossed over this in my last post. The commonly accepted "reasons" for BWS are as follows:

  • unknown
  • unclear
  • complex
  • genetic mutation
So it's not different at all from the majority of human maladies that the medical profession seeks to explain with many studies showing… nothing useful at all, but make them a lot of grant money.

To me, the answer is clear, although admittedly complex. It is a genetic mutation on chromosome 11, manifested by poor gene copying. So everyone knows DNA… it's the blueprint for life! How is it made? Well, glossing all the chemical processes, DNA makes RNA, and gives it a copy of itself, which the RNA then copies back to replace DNA. This process is constant in our bodies.

So what happens if there's a mistake? Of course, we all know - genetic mutation. Simple question and answer. Okay, then try asking why there is a mistake in copying. Go on, you can do it: Why would there be a mistake in copying?

Well, as an ink pad takes up ink from the stamp, sometimes we don't roll the stamp around enough and it doesn't get fully covered in ink. You could say, the stamp is lacking in ink. So when you make an impression on paper with that stamp… the design is mostly there, but missing a little bit.

So goes gene copying… and the ink is nutrition. Lack of nutrition and the RNA cannot copy the DNA properly. This is the cause of my Beckwith-Wiedemann Syndrome and the vast majority of all genetic problems.


Anonymous said...

What do you believe your father or mother could have done different nutritionally? What.could they have done to keep you from having BWS?

Gord said...

Thanks for the question - it's practical, poignant and basic - I like it a lot. There are only 2 causes of disease: toxicity and inadequate nutrition, and to an extent, toxicity can be warded off with good nutrition. There is a condition in the body that is likely very specific, and is certainly not uncommon (BWS is about 1 in 12,000) that causes said gene to be incorrectly copied and thus produce the variations on a theme that are grouped as BWS. So it is possible that BWS is caused by an environmental toxin that inhibits correct stamping. Could be in drinking water, detergents, plastics… that much is unknown. Or it could be a lack of nutrition when needed by the developing fetus.

There are so many variables that it is, for me, impossible to know and connect everything. I don't know what my parents' diets were before conception and I don't know what my mother ate during pregnancy. But I have a reasonable and general idea. In my case we're talking the 1970s, so processed foods were ubiquitous; vegetable oils, sugar-free, teflon… all these things were commonly accepted. So in short, if it was a nutritional issue, my parents would have had to eat radically different from the way they did. The standard North American diet produces sickness, disease and degeneration. So as a product of North American society, it is not a case of blame. It is difficult to conceive that the way everyone around you is eating might be unhealthy and even more difficult to conceive of eating differently. Food is culture to a large extent and getting together with family and friends, going out to restaurants, and even simple grocery shopping become culturally difficult.

There is a possible underlying assumption in the second question that I'd like to address, even though I'm pretty sure the questioner didn't intend it: the phrasing of the question could convey the assumption that something special had to be done in order to prevent the inevitability of BWS in Gordon Welch. There is no familial link in the case of BWS - none whatsoever. That means there is no inevitability and it appears "randomly". Of course, there is a direct cause for every malady, so it is only that we cannot see the actual cause that it appears to be random. There is no inevitability factor in BWS. So even though there is "genetic counseling" available for couples where one spouse has BWS, I think it's hogwash, serving only to enrich the medial profession and to scare the parents. "Genes" themselves are not responsible for BWS. Pretty much everyone has full genetic potential if preconception and prenatal nutrition is suitable.

Anonymous said...

Could you possibly be more ignorant? Prenatal and preconeption nutrition has nothing to do with the development of bws. Good grief.

Gord said...

Suppose I could be more ignorant, but not much more. What's the cause of this collection of random problems?