Friday, October 07, 2011

Thinking about Fibromyalgia

My mom has fibro. So do I. So do probably all her sisters (some aren't so sure, but the symptoms seem to be there). Probably one of my three sisters does (even though she denies it--but we can see the characteristic "fibro behaviors"). And a handful of my cousins do, but many of my mom's cousins don't. But her paternal grandmother probably did.

Over the years, we've had discussions about what exactly causes fibro--and even what it actually is (metabolic disorder? psychological disorder? overreaction? potassium disorder?). People say it's an adult physical manifestation of the pain from childhood abuse, but that's not true--I was never abused. Ever.

Mom has tried just about every treatment out there, and nothing has worked.

But recent conversations with her left me thinking about what exactly this is.

I've come to some pretty solid conclusions and consistent observations:

1. True fibro is 100% genetic. There is a parallel disorder, a pseudo-fibro, that people can "catch" from car accidents and diseases, but true fibromyalgia is genetic (not even just a genetic tendency that gets triggered by stress or trauma--it's as genetic as your eye color.)
2. Fibro is present from birth but not bothersome until after the hormone shift that happens sometime in a woman's early-to-mid-twenties, about the same time most women put on 15 lbs that they can never get rid of and mostly stop getting acne. Even then, they don't really "notice" it until they hit their first bad cycle, which is usually associated with stress (new baby born, car accident, serious illness) because stress makes fibro take a bad turn. But the stress didn't CAUSE the fibro. It just brought it to the forefront.
3. Fibro is related to hormones. It cycles with a woman's hormone cycle.
4. Fibro reacts poorly to sugar, stress, exercise (too much, too little, too long, or not gentle enough) and lack of sleep (leading to more sugar cravings, more stress, and worse sleep in a nasty cycle) as well as certain physical movements (bend and hold, holding your arm up or out, standing in one place, moving outside the "cone" that extends from your shoulders out and down like a hoop skirt, repeating a motion more than 5 times in a row) and physical stimuli (sitting on a "wrong" chair or getting kicked, even gently, in the ankles, for example).
5. Many women with fibro must eat before they can fall asleep--like eat while sitting on the edge of the bed or while actually lying down to sleep.
6. Fibro also cycles separate from the hormone cycle--good days and bad days "pop up" seemingly randomly (although I have a sneaky suspicion there is a trigger and it's a delayed trigger, so I haven't pinpointed it yet).
7. Fibro causes a bizarre delayed response in some physical things, usually with the reaction showing up 24-48 hours after the trigger. For example, if I exercise too much, my muscles get stiff 2 days later, and the fibro pain increases 2 days later. If I stand up for too long (say, at a doctor's appointment for one of the kids), I pay for it in "fibro pain" 2 days later. Another example--the heaviest day of my period is the second or third, instead of the first, with my body responding to the shift in hormones that triggered the period 2 days later.
8. People with fibro have a strange relationship to energy. I'm not talking "energy work" in alternative medicine. I'm talking actual electricity energy. Science has found the ATP in fibro sufferers doesn't work the same as in normal people. Anecdotal evidence points to people with fibro draining 5-year watch batteries consistently in 1 year. Always. And fibro forums are full of accounts from women who say that street lights go off when they come by way more than would be expected by chance.

Previously, I had come to the conclusion that Fibro is a metabolic disorder--something like PKU. I also have thought it is tightly tied to female hormones and energy.

Here's my newest conclusion, based on a cursory family study on my very large extended family:

Fibro is genetic, and based on fairly simple genetics, too (as in, it's a trait controlled by a single inherited gene that could be explored using a punnet square--that simple). It moves in a straight line through families, not skipping generations, but is primarily expressed in the women (so it might appear to skip a generation if the father was a carrier). The gene that controls fibro (or genes) are isolated on the X-chromosome. It is a dominant trait (meaning you only have to have it on one of your X-chromosomes to have fibro). The reason I don't think it's on the mitochondria (which you inherit from your mother and which are involved in cellular energy production) is the expected inheritance/expression isn't 100%--not all daughters of fibro sufferers have fibro, even though all children get their mitochondria exclusively from their mothers.

I suspect the expression of it is hormone-dependent (somehow triggered by/fed by/attached to estrogen, estrogen production, estrogen processing, estrogen receptors? Or perhaps another predominantly female hormone, like oxytocin?--there are ways to begin exploring this. For example, find the men who claim to have fibro and see if their hormones are out of balance, with high levels of the "female" hormones, since all people have at least trace amounts of both "male" and "female" hormones).  Why attached to hormones somehow? It's primarily expressed only in women, and the symptoms very clearly interact with a woman's hormones (in fact, my mom's fibro got a LOT worse after her doctor prescribed estrogen pills when she hit menopause, but my grandmother's seems to have stayed the same or even gotten better after menopause).

In my mom's family, I suspect both her parents were carriers (the stories that they tell of her paternal grandmother sound like fibro behaviors to me), which is why she and all her many sisters appear to have fibro, even though not all her aunts or female cousins or female nieces do. In the rest of the family, it appears to follow the simple ratios you'd expect from a dominant gene using mendelian genetics.

Mom's family is particularly suited to a genetic study of fibro, actually. It is strongly expressed in multiple generations, and there are MANY women in each of those generations. My mom's mother came from a family with 17 children and my mom's father came from a large family (although not that large), too.  Each of those children had many children, and each of those has had many children (3 or more). So there are a LOT of people to test and compare, some of whom have fibro and some of whom don't. (My mom has something like 100 first cousins on just one side, and I have 35 on her side).  Interestingly, I have a large family on my dad's side, too, and none of my 35 cousins on that side claim to have fibro. (I vaguely recall my paternal grandmother saying her sister had fibro, but my grandmother did NOT, so my dad wouldn't be a carrier, which would explain the ratios in my immediate family, with half the girls having it and half not).

Somebody with more expertise and funding than I have should do the research. If I'm right, it would be a huge breakthrough for fibro research, which is still hovering in the "no, it's just female hysteria--it's all in your mind" realm. If they could find the actual gene that controls it, that wouldn't cure it, but it would be a huge step forward. Even if I'm wrong, that would be a huge breakthrough. The more things you can eliminate, the closer you are to the truth.

No comments: