Sunday, April 1, 2012

Albinism 101

Okay, to begin with, I feel that I still know VERY little about albinism.  However, seeing as we are going to have a little princess with albinism very soon, I'm doing my best to learn as much as I can and help my friends and family understand a little about it as well.

Many people think they don't know what albinism is because it's usually referred to as "being albino".  I however, feel that albinism is a condition, not an identity.  As much as I love blonde jokes, having blonde hair is a characteristic, not a defining attribute.  Same with many other characteristics or attributes or conditions we may have.
Albinism is a recessive genetic condition that affects vision and often gives the person little or no pigment in their eyes, skin and hair.  Some people with albinism, however, have very normal pigmentation for their ethnicity.
Xue appears to have oculocutaneous albinism, which is the more common type.  (The other is ocular, and affects almost exclusively males, and primarily impacts vision and eye pigmentation, not skin and hair pigmentation.)  Within oculocutaneous albinism (or OCA), there are several subtypes, which are linked to which gene and melanin-related enzyme is affected.  The stereotypical "albino" look, with completely white hair, pink-white skin, and depigmented eyes is usually indicative of OCA1A or "complete" albinism.  This is what Xue appears to have.  (In short, she will make her Viking siblings look downright swarthy.)

In the U.S., the rate of occurrence is about  1 in 17,000 people.  Albinism occurs worldwide, and the rate of occurrence in parts of Africa are somewhat higher.  If the rate in China is comparable to the U.S., then it stands to reason that there are a WHOLE LOT of people with albinism there.  There is a stigma associated with albinism in China, and some even consider it a curse or unlucky.  It generally makes life difficult for people with albinism. 
Nope!  Surprised?  Yeah, I thought that too.  I thought white skin and pink eyes were the definition of albinism!  Turns out no one has pink eyes.  People with albinism have blue, gray or violet-looking eyes, or if they have more pigment, they may have hazel or even brown!  "Depigmented irises" are actually blue!  Beautiful, gorgeous, crystal blue in fact.  :)  That's what my baby has.

So why does everyone say that people with albinism have pink (or red) eyes? 
Have you ever had "red eye" in photos?  That is caused by the light (usually from the flash) reflecting off of the blood in the choroid behind your retina.  Something similar happens in people with albinism.  The sclera ("whites") of the eyes have no pigment, nor does their iris, and when light hits their eyes at certain angles, a similar pink or red-effect occurs.  In normal light, you get to enjoy their beautiful baby blues (or whatever they are).

Absolutely.  Because of the lack of pigment in her skin, she is unable to tan and will burn quite easily and be at higher risk for skin cancer.  The solution?  Long clothing, hats, and LOTS of sunblock.  I think I'm going to have to find a brand of sunblock that we like and buy it by the gallon.  
Also, because her irises and sclera have no pigment, they let a LOT more light in than your eyes or mine do.  The result is that feeling you get when you turn the bathroom light on first thing in the morning.  TOO MUCH LIGHT!  In a great primer book on albinism put out by NOAH (more on NOAH later) called "Raising a Child With Albinism", they describe it this way: 
"Imagine the brightness of a floodlight that's always on, or the sensation of coming out of a dark movie theater on a sunny day - that is what it's like for someone with albinism."
So, sunglasses.  LOTS of sunglasses.  A family with several children with albinism suggested just having a drawer full of sunglasses.  Inevitably, the little one is going to lose this pair, sit on that pair, get in a fight with a brother and break the other pair, and still will need some to go outside.  She will probably end up with prescription sunglasses when she is older, but we'll take that as it comes. 

One "bright spot" here (oh, punny...) - our living room is always dark.  Even when the sun is shining, it just doesn't have the kind of light that we'd like.  When we were anticipating being matched with a child with hearing loss, we thought that would be a project: getting better lighting in the front room.  Turns out it's just perfect!  I love good news.

Because albinism is a visual condition, she will need to see eye doctors more frequently than the average bear.  She will need sun protection.  Other than that, time will tell.  Many people with albinism use special adaptive technologies to help their functional vision.  Many children with albinism use occupational therapy.  Some need braille or use it in conjunction with print.  
In short: We'll see.

We believe so.  There is a rare condition called Hermansky-Pudlak Syndrome that causes lung, bowel and other problems.  According to her medical records, she does not have a history of bruising or bleeding, which are common first symptoms of HPS.  

If anyone has other questions, I may have just not thought of them yet.  Please ask and I'll try to find out the answers.  I would like to be as prepared as I can before my little Snow Angel gets here.

In closing, the best resource I have found for information about albinism is the NOAH website.  (National Organization for Albinism and Hypopigmentation).  They have forums, resource lists, and pages for people with albinism and people who just need to write a paper about albinism.  I found that amusing and helpful.


  1. I think that one reason we think that people with albinism have pink eyes, is that albinos in the animal world have pink eyes (rats, rabbits, hamsters...)

    I just did a quick search, and it looks like other 'higher level' mammals have blue eyes too. Who knew?

    1. Aha! Good point. I bet most people have seen more albino bunnies than albino people.
      Interesting about the higher order mammals. Thanks.

  2. Erin, I am following on the edge of my seat and THRILLED for your family! Hoping all of the best!

    Brandi Price (Mike Kile's daughter)