Monday, January 16, 2012

lumpy bumpies

It came as no surprise to the Man, when I realized how much I love baking my own bread. You like making things, he pointed out. Yarn, flour, gardens, whatever. You like working with your hands. Which makes it particularly irksome to realize that my hands have been stepping out with some giant cell dudes. And lumpifying. 

It's never occurred to me to think of my hands as being aesthetic. Unless it's my aesthetic, which turns firmly on the functional. And oh, dangit - the quirky. Which occasionally includes la lumpy. 

Introducing, La Lump.

I bring this post-biopsy, and post-frozen scared someone find me a fucking hole to stick my head into, because the ostrich and sand dune combination is looking pretty damned good right now. Yes, it's benign. Giant cell tumor, but benign. It's also wrapped around and through my wrist, which isn't so benign, but it's a heck of a far shout from malignant. And it's like hemophilia, in that I keep waiting for someone to say, ha ha, just kidding - there's really nothing going on here, but they don't.

Which makes it all the more symmetrical, perhaps, that La Lump has sparked the hemophilia question. Stoked it, really, into a fierce light. And to clarify? not the Eldest's hemophilia. Mine.

So, one day, La Lump, the Eldest and I go to the grocery store. I grab a basket, and we pick up some cherry tomatoes, dill, a bag of tortilla chips, a smallish bottle of olive oil and some fish. Not very heavy, even with the Eldest dropping his jacket on top. Both hands on the basket, I stroll with the Eldest, enjoying chattering with the kid. La Lump hissed at us both. Bitch.

At our front door, I fumbled my keys. Your hand looks funny, Mum, the kid told me. Not La Lump funny - this we'd gotten used to. La Poof funny. La Bleed funny.

The details don't really matter after that, except to note that we were walking in with the last minute groceries  for dinner with a dear friend, his tiny lovely baby, and grandparents. And that the Man had to do nearly all of the cooking himself, with me supervising. It's hard to get more heroic than putting up with my ideas of supervision. And the guests, sweet and funny and absolutely wonderful sports, helping with the salad, the lentils, the calm return of the undercooked fish to the oven, and of course, the baby.

And ice. Ice, ice, ice, days of ice. Don't touch the arm, don't lower it past heart-height, don't oh don't jar it even if you are small and loving and just want your mama to feel better, because holy shit that hurts.  Days of sitting and breathing inside the cool dark of my skull, exhaling tension, sitting on the floor and waiting for that moment of peace to come. Sitting with the pain, accepting a newly visceral understanding of how much a joint bleed can hurt. And how little I understand my own bleeding.

It was two days before the Hemophilia Treatment Center's NP marched me over to the fridge, and told me to use some DDAVP. Now. And reassessed (with my honest help) her opinion of my reliability as a person with a bleeding disorder. You have to understand it in order to manage it, and I don't get this hemo-girl thing.

Thought I did. Don't. Or, not enough.

Let's start at the basics:
genetic carrier (or just carrier), is a person or other organism that has inherited a genetic trait or mutation, but who does not display that trait or show symptoms of the disease. They are, however, able to pass the gene onto their offspring, who may then express the gene.
 Wikipedia then goes on to offer Queen Victoria's daughters as the classic examples for carriers of a gene. But it looks like a revision is in order for this wiki.

Coagulation specialists already knew that looking at a carrier's specific mutation could help them predict the severity of the condition for a future (or in utero) child with the gene. But what about the carriers themselves? Dr. Marion Koerper, when I asked, explained that the severity of symptoms is not consistent between mother and daughter. You could check every carrier's factor 8 levels, but, Koerper warns, you'd have to check them at their lowest: the day after the woman's period ends.  And, it seems, you must check.

According to a study published in Haemophilia (March 2011), a carrier can have 40-80%  factor 8 levels (fVIII) and still be at a higher risk for bleeding than someone with the same level of fVIII - who doesn't have the hemophilia A mutation. Danielle Nance discussed the study with HemAware That result wasn’t something we expected, Nance told HemAware. We always knew that if a woman’s factor VIII level was below 30% or 35%, she had an increased chance of bleeding. Now it looks like even if the factor level is in the normal range, a woman could have an increased risk of bleeding if she has a severe mutation. The researchers found a rough correlation between the genotype and the woman's bleeding pattern, sparking a lovely controversy: do you test the woman for her child's sake? Or, for her own? Do you test the child for the woman she will be? 

I wonder what you think.

More immediate is the challenge for the hemophilia centers. A rose is a rose is a rose, except when the insurance companies deny coverage for testing and care for a carrier. As dictated by language alone, symptomatic or otherwise, a carrier can only be getting unnecessary care.  Koerper is very clear about this. We have to be very careful about our terms, she told a roomful of women recently. By definition, a carrier doesn't have symptoms. And it doesn't matter if you call someone a 'symptomatic carrier'  - if you say 'carrier,' then that woman isn't getting treated. And we all watched her think about flinging up her hands.   

I understand learning curves. And I understand catalysts. This one, happily, will soon be leaving me. La Lump has met La Surgeon, and he is planning to spend some time peeling her off of the various necessary bits of my wrist and arm. We've discussed our mutual agreement that it would be better to risk recurrence than to oh, nick an artery or damage a tendon.  But he is very very good at his art, and I have hopes that this will be good-bye for the lumpy bumpies, and La's sniggering, sneering shove at hemophilia. Pushing it center stage, where it should not be. And sparking a wonderful, honest conversation with the Eldest about pain - that much friggin' pain - that isn't politely confined to a predictable event, like oh, childbirth.

Still, I did win the kiss me, I'm a mutant t-shirt, and perhaps earned it better than I'd realized. Hemophilia can go back to lurking, but now that it's taken my hands and held them - and me - in place, I owe it a clear, careful look. And yes, some respect. So, I made an appointment.

Tell me, I said to the hemophilia NP, pointing at a dark purple bruise. Don't know where it came from, but I've had this for almost a week.  She nodded, and bent her head to look. It's firm, the skin arcing gently over the pooled blood. A dull, ignorable ache under the skin. Tell me if this happens to other people. 

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