Albinism 1

Jasmine is a person with albinism, as the preferred term in the United States goes; in the United Kingdom she'd be an albino (pronounced al-BEE-no there) and the terminology varies likewise around the world. In her birthplace in China, albinism marked her as definitely not Chinese, which is too bad -- we want her to know her birth culture, but not pain her with it if they don't accept her.

Albinism is a rare disorder, affecting on average 1 in 17,000 humans. In some populations the incidence is as low as 1 in 20,000, while in some Central American native groups it is as high as 1 in 125. In-breeding has little to do with the occurrence of albinism, as the genes involved are quite widespread in the population; about one person in seventy carries them. Most people with albinism have normally pigmented parents.

There are multiple types of albinism, with several different genes involved. Think of the grand variation of skin, eye and hair color in humanity and you'll appreciate how many factors there are in the genetics of pigmentation. But roughly we can refer to oculocutaneous albinism for those who have no melanin (the dark pigment) in their eyes, skin and hair, and ocular albinism for those with normal skin and hair but lack melanin in their eyes. Jasmine is in the first group: she has beautiful white hair, pale pink skin and light blue eyes, as well as red lips that would make a starlet envious.

While the issues of skin and UV exposure are most obvious to someone looking at a person with albinism, it is the syndrome's effect on the eyes that has the greatest impact on lifestyle. We're not sure yet how well Jasmine's vision can be corrected, but a few things are clear. She often has trouble picking out details, and she can't track moving objects well. Eyeglasses meant to correct the sight of normally pigmented people are only partly effective for people with albinism, for reasons I'll go into in another post, but we're working with those and other vision aids.

We're just back from the NOAH conference in Las Vegas, and Jasmine had a great time there, meeting other kids and adults like her and their great families. It is a very welcoming community and we all enjoyed the trip.

Wikipedia's article on Albinism, where I started my education: http://en.wikipedia.org/wiki/Albinism