Friday, October 28, 2005

To Write On

Write on posted a comment on one of our threads on Maddy's albinism and I wanted to tell them some more things and didn't know another way because we don't have contact information. Anyways...

Thank you so much for commenting on our post I am sorry that I used the word albino. I had talked with others that have albinism and that is what they referred themselves as. I will get better about not using that though. Our pediatric opthamoligist said she had incomplete albinism but we then researched as soon as we got home and realized that is an outdated term and so we no longer use that. I did find the NOAH the same day we found out about her and I have loved it. It has been a great site for information and the community boards are wonderful! I know that it isn't the end of the world but it still is something that is hard to get used to. It isn't because of what she was diagnosed with it is just because I know that my precious baby is having trouble right now. She does have nystagmus and she can't focus on anything and therefore she is behind in some things. I do also think she has strabismus but the eye doctor didn't mention anything about it. We have pictures of her that show one eye one way but the other different.

Do you think that we should get her tested to find out what kind of albinism she does have or just not worry about it. I do feel that it affects more than the eyes but the eye doctor said it was "incomplete albinism" so he meant just affecting the eyes. I am starting to second guess whether or not we should go to another eye doctor but I don't know how to go about finding a low vision one in our area. Also, should we contact early intervention, some people have said we should and I just don't know what to do. Any of your thoughts would be great, I just want the best for my baby. She is soo beautiful, I don't know if you have seen any of her pictures. I am thankful for her and I wouldn't change her.

3 Comments:

Anonymous said...

Wow! We found each other!

I couldn't figure out how to subscribe to your blog (I think I've got it now - on Firefox); I couldn't find my way back to the page whee I posted, to see if my comment had posted (I didn't think it had), and to watch for you to post a reply comment. But I finally just found my way back to where I had done the search that led me to you in the first place (blogsearch.google.com), and I did another search (on albinism), and there was the result "To Write On"!

Now for the important stuff:

I'm glad you didn't consider my post an intrusion into your family. Thank you for writing back.

As I said, I don't mind the term "albino" at al; I think it's a lot easier to say than "person with albinism," and most people understand it a lot more readily. But I know many people who do care - a lot! (By the way, you may have noticed on the NOAH AOC [Albinism Online Community] that we've informally invented a term for you non-albino folks. You are pigmentos. It's payback time! Just kidding--we really only wanted a simpler way of talking about people who don't have albinism.)

My parents were also told I had partial albinism when I was a baby (50 years ago). There are two issues that can get confused here. As you know, albinism is a genetic condition, so it's there, or it's not, but amount of pigment can vary a great deal. Very few people, if any, actually have no pigment at all. Secondly, it is possible to have "Occular Albinism" or OA(as opposed to "Oculocutaneous Albinism," or OCA). This affects only (or primarily) the eyes, leaving skin and hair color nearly normal. This is usually X-linked, but there seems to be a rare variant of recessive OCA.

I'm glad you found the NOAH site. One of the primary reasons NOAH exists is to support bewildered parents like you. I'm glad you have found the AOC helpful. I was on there regularly for awhile last summer, but left for personal reasons, and haven't been back lately.

Here's another group you may be interested in joining: http://groups.yahoo.com/group/Albinism_International/
You have to be accepted to join, then you post (usually) by sending email to the group. You can set preferences to receive every email individually, so you can continue the thread by forwarding that message back to the group, or you can receive a digest of about 25 messages at a time. This is a VERY chatty group, and the subjects go way beyond albinism and get very personal. It's one big happy family, with many NOAH members also involved. Tell 'em Joan sent you, although I dropped out of there at the same time I left the AOC, so they may not even remember me anymore.

Yes, albinism does take getting used to. I want what I say to help you be realistic, but not discouraged. Although the Albinism International people seem to make a big deal out of it, I don't think it much matters which type of albinism one has. The exceptions to that statement:
* If it's Ocular Albinism, that's going to be less obvious, so the diagnosis can easily be missed
* There is a form of OCA caled Hermansky-Pudlak Syndrome (HPS). In that case, there is a problem with the red blood cells (I can't remember the specifics off the top of my head--see the NOAH site), and this leads to bleeding problems and can cause all kinds of internal organ troubles. Most people don't get tested for that unless there is a medical reason to suspect HPS. There is only one doctor in the US (world?) who does this test.

You should find a low vision specialist. I guess one place to start looking would be nearby universities. (I know where to send you in Chicago, but somehow I picked up the idea that you are in California? Some people actually fly into Chicago once a year to see my specialist, Dr. Derrald Taylor at the Illinois Eye Institute-Low Vision Clinic, in the Illinois College of Optometry, phone 312-225-6200.) You might try your states Rehabilitation Services office, or Services for the Blind. Local school social workers or teachers for the Visually Impaired (VI) may know something.

As far as early intervention, I'm not sure what to tell you. In my day, there was no such thing and I managed without it--but is that a good thing? It wouldn't hurt to investigate your options. You may run across differences of opinion about the importance of wearing glasses and how early (I've worn them since age 2 and can't read without them, while the president of NOAH doesn't wear them because it doesn't make enough difference to bother). If you see your daughter having trouble and some thinks they can help, you should probably at least listen to what they have to say. I had visual aids forced upon me in school that were little help, or even caused more problems thatn they solved, but things are different now. The lesson I take away from that is to listen to your daughter (when she's old enough to tell you) and let her tell you what she needs, and what she doesn't need. It's a complex subject, so maybe another time...

I see her pictures in your banner, and she looks like a sweetie. With you in her corner, she'll be fine.

So we can be sure to hook up again, I'll give you an email address here, but please don't anyone share it. (I realize you can't help that it's being published here.) I just have a personal thing about keeping my email close to the vest.

jdemuth@myway.com

Chris said...

Joan:

I also posted a lengthy reply similar to Casey's above. I put it in the original post, here: http://www.phase7.com/2005/10/albinism.html (just in case you or anyone else wants to see it)

Thanks for finding us again, and we'll definitely take your advice. We're actually in Texas (near Dallas), so we'll look into what's local... Of course, we want what's best for Madison, so if we have to travel to go to a doctor every now and then, then that's what we'll do!

Bonnie said...

My aunt (the one that I told you about) may be a really good resource to help you find a low-vision specialist. Like I said, she's been working with blind and low-vision kids for something like 30 years, most of it in this area, and probably has tons of resources like that. If you'd like me to ask her, or even if you'd like me to arrange for us to all sit down with her (we go hang out at their house all the time and they're some of my coolest relatives) I'd be very happy to do that. I know she's already gotten some information together for you that she keeps forgetting to pass on to me, so if there's anything specific you'd like me to ask her, I'd be happy to.