adjusting self-perception in 3 . . . 2 . . .

[truepenny]

So I was looking for information on ocular albinism last night because I was trying to think of ways to condense the explanation (I find it more than a little tedious, and am always worried that the person I'm explaining to is also finding it tedious), and I discovered something.

I don't have ocular albinism.

Your actual ocular albinism is an X-linked condition, which means only men have it. Women can be carriers, and [corrected per marsdejahthoris's comment] which means very very few women ever have it. If my dimly resurrected ninth-grade biology is right, the only way for a woman to have it would be for her father to have ocular albinism and her mother to be a carrier--and for her to get her mother's albinist X. This is not my situation. Women who carry ocular albinism may have mottled retinas. This is not my situation, either.

No, what I have is albinism: oculocutaneous albinism (OCA), an autosomal recessive condition, the same thing that produces the albino of popular culture, with white skin and white hair and pink eyes. There are different types of OCA, with differing degrees of ability to produce melanin. The fact that I'm a blonde in a family of redheads and brunettes is caused by albinism, exactly the same way the absence of pigment in my retinas is.

Research has clearly taken a step forward since the last time I looked at NOAH's website--which was, in point of fact, several years ago. And it's taken big steps forward since the 1970s. (I remember having hair pulled out for the test described on their What Is Albinism? page; from the results, the doctors decided I didn't have albinism, which shows you that the test is, as NOAH says, not real reliable.)

NOAH also has a page about nomenclature. For the record, I will not be offended by the word "albino." I don't have any negative childhood associations with the word (although I can completely understand why people whose albinism is more visually apparent than mine might have big honking issues), and for me, it doesn't carry a lot of freight. (I wasn't diagnosed with "ocular albinism" until I was 22, and only discovered YESTERDAY that I am, in fact, entitled to use the word "albino" without immediate qualification and clarification. So, yeah. I've got my share of baggage, but not about that.) Other persons with albinism may feel differently; I do not pretend to speak for them.

In some ways this is completely trivial--it's not telling me anything about my own personal albinism that I didn't already know--but it's still kind of, I don't know, unsettling. So yeah, this is me, being unsettled and readjusting. Onward.

Comments

[txanne.livejournal.com]

I am a Bad Person, for my first thought was, "now she needs to go steal Gaiman's dog."

NB:

[matociquala.livejournal.com]

Cabal is not an albino. As you can see, he has pigmented eyes and lips.

He's a White German Shepherd Dog (http://www.wgsdca.org/), a recognized breed. (And a lovely, lovely animal.) (http://30.media.tumblr.com/tumblr_kw01v9rxv91qz553io1_500.jpg)

Re: NB:

[txanne.livejournal.com]

And Sarah doesn't have white hair and gold eyes, either.

(wait, um, I was making a Dark Is Rising joke.)

Re: NB:

[matociquala.livejournal.com]

I'm totally lost.

Re: NB:

[txanne.livejournal.com]

In Susan Cooper's The Dark is Rising books, there's a white-haired, gold-eyed albino boy who is Important to the Plot, and his wonderful dog is named Cafall.

Re: NB:

[matociquala.livejournal.com]

aha! You know where the name comes from, right? Cafall/Cabal was Arthur Pendragon's best dog.

Re: NB:

[txanne.livejournal.com]

And that would be why Important Albino Boy's dog is named that, yeah.

Re: NB:

[leahbobet.livejournal.com]

I loooooove that book.

Re: NB:

[txanne.livejournal.com]

Check your Rav mail!

Re: NB:

[coffeeem.livejournal.com]

And he's still one of the happiest dogs in the world. *g*

Re: NB:

[matociquala.livejournal.com]

He worships Neil. And he has a RIVER!

[matociquala.livejournal.com]

(and this would be me doing the annoying geeky correction thing. Oops.)

[truepenny.livejournal.com]

<3

[txanne.livejournal.com]

If I'm actually wrong, I don't mind a bit.

[marsdejahthoris.livejournal.com]

Mild nitpick to a fascinating post... X-linked disorders are vanishingly RARE in women, but you can have them. It requires two X chromosomes both with the gene in question, which is a crapshoot, but it can happen. Hence colorblind women and women with hemophelia.

That said, this is a very interesting post. Though I hesitate to admit I know more about albinism in snakes than I do in people...

[truepenny.livejournal.com]

Thanks for the correction!

[marsdejahthoris.livejournal.com]

Also, your resurrected ninth grade bio is absolutely correct. :) Hence the vanishingly small chance of inheriting a sex-linked trait.

[mamculuna.livejournal.com]

Hence tortoiseshell cats...but maybe that's a dominant gene.

[truepenny.livejournal.com]

Tortoiseshells are the opposite. The only way to get a male tortoiseshell cat is if he's XXY. Now why exactly that is, I have no idea, because my grasp of cat genetics is even poorer than my grasp of human genetics.

[mamculuna.livejournal.com]

Right. It's because the red or black is on the X chromosome, so a tortoiseshell female has one red X and one black X. The male is the same, with the additional Y, which doesn't count in that situation, as I understand it. But you're saying that your situation is two recessive genes carried on the X, I think. So I guess it is the opposite.

[truepenny.livejournal.com]

Actually, my personal kind of albinism is not X-linked. It's a straightforward Mendelian one-chance-in-four recessive.

[marsdejahthoris.livejournal.com]

Torties are weird. They're a case of codominance, actually. A tortie carries red alleles on one X chromosome and black on the other. Hence male torties and calicos being XXY, usually, and therefore sterile.

[mamculuna.livejournal.com]

Recessive gene, right?

[matociquala.livejournal.com]

Evil albino! Evil albino!

Now, if you show up with a honking great sword, I am pretending I don't know you.

[truepenny.livejournal.com]

You know that's not true. If I show up with a honking great sword, you're going to ask when you can borrow it.

[coffeeem.livejournal.com]

That's so totally true.

[matociquala.livejournal.com]

People who hang around with Eternal Champions rarely come to good ends. *g*

[coffeeem.livejournal.com]

Sure, you know that. But you'd still be asking to BORROW THE SWORD. You couldn't help yourself. *g*

[matociquala.livejournal.com]

CHEETOS AND BEER FOR MY LORD ARIOCH!

[redbird]

Interesting.

Labels do seem to matter, in all sorts of ways, some small. But small doesn't mean infinitesimal.

[marsdejahthoris.livejournal.com]

Labels can help you say "No, I'm not weak/freakish/stupid/hysterical. This is REAL, what's happening to me. Other people experience it."

[fidelioscabinet.livejournal.com]

Hey, you're a whole new you, without undergoing any uncomfortable and annoying so-called beauty treatments, or having your wardrobe or house submitted to the criticism and ministrations of either amateur or self-anointed experts on TV.

I'm betting you already had the essential daylight gear for this gig anyway. Except maybe the sword, and it's easy enough to get one of those, although convincing it to eat souls might be a touch more difficult. Maybe you'd want to skip that step, since it gets complicated after a while, and you'd never get a delivery person near the house again once word got around.

[auriaephiala.livejournal.com]

This is just my own curiosity, so feel free not to answer:

Did this condition also affect your eye colour or sensitivity to light? For example, do you have light blue or green eyes when everyone else in your family has brown eyes?

[truepenny.livejournal.com]

I have indeterminate pale blue-gray eyes. I am not the only blue-eyed person in my family.

otoh, yes, I am extremely sensitive to light. I can almost never go outside without sunglasses, even if it's overcast, without courting severe headaches. (This is why I joke about being a mole.) And, at the other end of the range, I need more light than other people seem to need to be able, for example, to read comfortably.

[papersky.livejournal.com]

Z has a friend who is an albino with the whole bit, white white skin, red eyes, white white hair. He's a nice young man, fond of Zelazny. And now I learn that you are one too -- so based on my huge data set of two, I conclude that albinos are nifty.

[matociquala.livejournal.com]

Having known three, I concur. (There were twin sisters with albinism who used to ride my bus, years ago. Nice women. Talk about a genetic royal flush, though.)