Monday, May 26, 2008

I'm gonna go there.


I'm going to Girl Bleeder land.

This won't be for the squeamish or faint of heart. I'm talkin' menstruation. The rag. The curse. Aunt Flow. So, if it freaks you out...go somewhere else now.

The name of my blog IS Girl Bleeder. I do say in my little blurb that girls bleed too. The reason this is important to mention is that for years and years women with bleeding disorders were largely ignored. When women would present with symptoms just exactly like those of men with hemophilia, they were told that women just can't have hemophilia. Well, it ain't so.

In fact, boys actually inherit their hemophilia genes from their mothers. The gene that causes hemophilia is sex-linked. It's carried on the "X" chromosome. If you go back to your freshman biology class, you'll remember that boys are made with a "Y" from dad and an "X" from mom. If the mother is a carrier of hemophilia, one of her "X" chromosomes carries the genetic code for hemophilia; if she passes on her "hemophilia X" chromosome, that boy will have hemophilia.

So, if you're following me so far, chicks have two "X" chromosomes; one from Dad and one from Mom. If the chick has an "X" chromosome that carries the genetic code for hemophilia, well, it's a crapshoot. See, there's this weird thing called Lyonization. Since girls have two X chromosomes, there's a process that switches on and off one of the x chromosomes in every cell. If most of the "hemophilia X's" get switched off, the girl is a carrier but might not have any symptoms. If the hemophilia "X's" are mostly switched on, the chick might actually be a carrier of hemophilia who bleeds like a bleeder!

It makes perfect sense, right?? Probably not, but that's your hemophilia genetics lesson for the day.

Then again, there are folks like me. Mom didn't give me a Hemo-X and neither did Dad. Somewhere along the way, my X went rogue. Yes, it's true.

I am a certifiable mutant. I've had my DNA tested by world renowned geneticists at the City of Hope (at the time they were at Mayo but now they are in California). These folks know their stuff and they've declared me a mutant. So I'm going with that. I have an X chromosome that flip-flopped (called a transversion) at one of the ATGC points and that made hemophilia B. To anyone who knows me, my status as a mutant is not surprising.

As the result of this mutation, I am a symptomatic carrier. Actually, I'm a person with mild hemophilia B because my clotting activity is just like that of a man with mild hemophilia B, but that's another issue. (Normal circulating factor 9 is 50% - 150%, I'm at 28%)

So. Here's the thing. I have very heavy periods. Menses. The curse. I didn't really KNOW they were heavy until after #1 was born and people started asking me. They'd ask if I had any bleeding heavy periods. Well, duh, mine is the only one I'm intimately familiar with. I read "Are You there God? It's Me Margaret" like every other young lady and I just figured I was like all the rest of the gals.

I thought it was normal to have to take a sweatshirt or sweater with me to all my classes during my period in case I needed to wrap it around my waist. I thought it was normal to have to use the ultra heavy stay-free pads (a.k.a. diapers) and change them every hour. And I certainly didn't know that having a period that heavy for TEN DAYS was unusual!

Shit, I went to college and found out that my room mate only had her period for 4 days and I was PISSED! Still no red flags. After all (as my mom told me) "We're all different."

Then there was the bruising. I've always bruised like crazy. My mom chalked it up to being fair skinned. I had many hematomas and thought that's the way everyone is. At least until I lived with my husband! He NEVER has a bruise. And when he does, he's a big wimp.

And the gum bleeding. I always bleed when my teeth are cleaned or if I brush too hard.

So, that's how I found myself at 26 being diagnosed as a symptomatic carrier of hemophilia.

But I've got it easy. See, I know lots of other women who have had much, much worse because their bleeding disorder wasn't diagnosed.

I know women who had their uterus's removed in their late twenties because of heavy bleeding, only to find out they have a bleeding disorder. I know women who lived with painful joint bleeds and bloody noses while their doctors failed to pick up on the signs and symptoms of a bleeding disorder. Women who hemorrhaged following child birth, tonsillectomies, wisdom teeth removal.... There's another bleeding disorder...vonWillebrand's Disease that actually affects between one and three percent of the entire population! However, because of menstruation, women are diagnosed more frequently than men. Lots of nosebleeds? Bruises? Bleeding from teeth extraction? Ask your doc to check your vWd levels.

I'm lucky. I just have a period that lasts 10-14 days. And those ultra-super tampons? One an hour. Yeah, that's the gross part. But see, until I knew, I thought it was totally normal!

As if anything with me is normal.


mama o' the matrices said...


Did you ever try birth control pills? I dunno what they do for symptomatic hem B types, but they do wonders for me...

and yes, that symptomatic carrier/mild hemophilia thing BUGS me. The HTC prescribed factor for me after I fell down some stairs, and I'm still (?) a symptomatic carrier? When do women get to cross that line and become people with hemophilia?

Rixblix said...

I was on the pill in my younger days but didn't like the side effects. I've thought about dosing with some factor, but it's become just one more thing to deal with. I wish I'd know, though, when I was younger what the heck was going on!

mama o' the matrices said...

Oh, there are pills and there are pills. After year on one pill, I finally admitted to my ob/gyn how frustrated I was. I felt like such a wimp: five weeks of breakthrough bleeding and I was complaining, but still.

He switched me immediately to a new pill. Hark the herald angels sing...

Nope, we didn't know about this stuff when I was a kid. My mom took me to the gyn when I was in my teens because a friend of the family (gyn) saw me anemic and exhausted during a period. We were visiting his house, he heard me tell my mom that I needed to lie down, she told me I couldn't laze about a week out of every month...he took her aside for a quiet word.

But you betcha that word wasn't 'hemophilia!'