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Genetics testing for oca1?

Last post 05-18-2008 2:07 PM by Joyful. 1 replies.
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  • 05-18-2008 10:52 AM

    • chartley
    • Top 200 Contributor
    • Joined on 08-23-2007
    • Michigan
    • Posts 37
    • Points 765

    Genetics testing for oca1?

    Hi Everyone:

       I know genetics come up a lot so I apologize if this has already been covered, but our pediatrician is really pushing us to get genetics testing for Emerson. We set up the appointment for June, but I think I will cancel because Emerson clearly has oca1 - he has no pigment whatsoever, nystagmus and strabismus. I can imagine testing is important to distinguish between the other forms of oca, but has anyone found a benefit to testing beyond figuring out what type they have? If we know what type he has and we aren't planning on testing this pregnancy, what other information could they give us that would be useful?

     Best,

    Cassandra 


    http://www.emersonporter.blogspot.com/
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    • Post Points: 20
  • 05-18-2008 2:07 PM In reply to

    • Joyful
    • Top 100 Contributor
    • Joined on 11-29-2007
    • Michigan
    • Posts 70
    • Points 1,340

    Re: Genetics testing for oca1?

    We got genetic testing done for my son Andrew. They were presuming he had OCA1b. But it turns out he has OCA2. We were on board for the genetic testing. I guess, just for reassurance. But the results didn't necessarily make us feel any different/better. All it really did was confirm things. We were puzzled with the diagnosis of OCA2, as its generally known to be the diagnosis of kids of color. But they told us that the longer the diagnosis is around, the more its diagnosed in white kids, and becoming the most common diagnosis for white kids.

    Which leads me to the best reason to get it done: genetic studies and research. My kids are now a percentage of the population of white kids on record with OCA2. It doesn't benifit me or my kids in anyway, but now they're a part of statistical research. That benefits the whole albinism community. The more people that get genetic testing, the more albinism research befits. They also wanted to test my husband and I, again, for research. But we did not, as we have not settled the insurance issues. But if it gets settled, we might do it too. Strictly for research on albinism.

    So why should you do it? The best reason I found is so that we can do our part to help with genetic research in albinism. It didn't change anything in our family based on the results. And when we went to our final appointment, I didn't know why we were there, and didn't want to go back. BUT--in the end, it serves a valid purpose. This is solely up to you. But consider how this will help the albinism community as a whole. Ya never know, your (or my) kid might be sighted in the next albinism report. Good luck and God bless.

    Lisa

    Mother of Grace and Andrew, genetically tested positive for OCA2. Andrew has nystagmus and strabismus, Grace has severe transillumination and depth perception issues.

    Joyful
    • Post Points: 5
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