Sunday, October 02, 2005

Albinism

Well, Chris wrote that Madison was an incomplete albino but the more we research and look at her we think she may be a complete albino. Her skin is very fair, she has white hair, eyelashes, and eyebrows, and blue eyes. Most albinos have blue eyes only extreme cases have red or violet eyes. We never thought anything about how Maddy looked, we always knew she was very fair and her hair was really light but we didn't think anything of it. Now we know!

3 Comments:

Anonymous said...

I think we have a Maddy Wonder amongst us with rhythm/musical skills that could develop beyond anyone's wildest dreams...been prayin' and researchin'...Papa Joe P.S. Hugs to all as usual and Casey you are the greatest!

Anonymous said...

I've never posted to a blog before, and I don't know any of you, so I hope this is OK.

I am an adult with albinism, and I hope to shed some light on your understanding of albinism.

First, there is no such thing as an incomplete or partial albino. It is a genetic condition (almost all forms are recessive), so you either have it or you don't. If you put a penlight under Maddy's lower eyelid, and you can see the red (from the blood vessels in the retina, at the back of the eye), this is called transillumination, and it indicates that she has albinism. An optometrist or opthalmologist who is familiar with albinism--CAUTION: not all are!--should know this simple diagnostic test. (Blue or grey eyes, sometimes violet, are normal in albinism.)

Speaking of eye doctors, if your child has albinism, you will need a low vision specialist. Low vision always accompanies albinism. Both color and visual impairment vary widely from one person to another. Besides low acuity (near-sighted or far-sighted), things to look for are: wiggling eyes or nystagmus-always; one eye pointing outward, rather than tracking parallel to the other eye, called strabismus-sometimes (this is apparent in my baby picture); photophobia (lack of pigment allows light to enter the eye through the iris as well as the pupil, which allows too much light in, resulting in impaired vision and over-sensitivity to light)-always. There will likely be astigmatism, which is common in the general population. There are other internal physiological problems that you can't see (misrouted optic nerve fibers, deficient photoreceptors called cones). That explains why glasses will not completely correct all the vision problems. This is the simple version of our visual impairment. I can go into more detail later, if you like.

If your child does have albinism (1 in 17,000 or 20,000 people, worldwide) and neither parent does, that means you are both unaffected carriers. Statistically, you should have one child in four with albinism. This is how most people find out they are carriers (1 in 100 people worldwide). My parents came up with three out of three.

You say you have been researching. If you haven't already found the National Organization for Albinism and Hypopigmentation (NOAH) at www.albinism.org, you should check that out ASAP.

FYI: The politically correct term is "person with albinism." I personally don't care, but the majority of my cohorts in albinism think that "albino" is a dehumanizing term. I think that's because most of us has had that term used against us far too many times. There are social consequences. But IT'S NOT THE END OF THE WORLD! I know people with albinism who wouldn't want to be "cured" if they had the chance. I think I'm one of them.

I've probably freaked you out enough, although that wasn't my intention.

I'll be watching for a response, and let me know if you want to contact me, or have me contact you, privately. (I'm not crazy about publishing my email publicly.)

Call me,
write on
Wed. 10/26/05, 8:35 PM (CDT)

Chris said...

Write On:

Well, I was preparing a huge response here thanking you for commenting and explaining where the term "incomplete Albinism" came up, but I had a computer problem and lost it of course. :-) So, here we go again...

As you suspected we have encountered a lot of the information you've provided, but it's reassuring to hear it from another person so that we can validate that what we've heard and read is correct, so I do appreciate your comments! We did find NOAH and we're considering joining if only to support an organization that has been so helpful.

As for the "incomplete" term, Madison's official diagnosis by the opthamologist was "incomplete albinism with related nystagmus and small, variable estropia". We have found since then that "incomplete" seems to be an outdated term and now it's referred to as "ocular albinism", so maybe that's where the confusion is. (We read about ocular/incomplete albinism here: http://www.albinism.org/publications/what_is_albinism.html) However, as you may have seen from Maddy's pictures, we as parents don't have any reason to believe that it is ocular albinism since she is so fair skinned and seems to have white (or "clear" as I've seen some people with albinism describe it) hair.

Madison is a beautiful baby girl and we wouldn't want her to be any other way. She is wonderful and anyone who doesn't think so should have their head examined. :-) In our initial posts (like the one above) we were just still very surprised and trying to adjust to the idea.

Anyway, thanks for commenting and you're welcome to email us at nospam@phase7.com (this will probably only be available for the next couple weeks since spam will probably start streaming in). Oh, and thanks for the tip about the term "albino", I wasn't aware of that and I don't want to offend anyone, so it's good to know. :-)