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2 Dr.s say she has it. 1 says no- please help?!?!

Last post 05-09-2008 8:56 AM by angie. 2 replies.
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  • 05-08-2008 9:21 AM

    • angie
    • Not Ranked
    • Joined on 03-21-2008
    • BIRMINGHAM, AL.
    • Posts 9
    • Points 285

    2 Dr.s say she has it. 1 says no- please help?!?!

    My daughter , Sophie, is almost 5 months old.  When she was 3 months old her ped. told us, I guess because of her nestagmus, and white eyelashes,she had albinism.  So then we took her to a PO and he said our Ped. was correct, and sent us to the eye foundation for further testing. So last week the Dr. at the Eye foundation ran an ERG (electroretinogram) and a VER ( visual evoked response).  So yesterday I got a call from her PO ( after calling him everyday this week) with the results.  He said there was no optic nerve damage and that the other Dr. saw no gross lack of pigmentation behind her retina.  He said that she may not have albinism, she may just have infintile nystagmus syndrome.  I am so confused, I don't know what to do now or what to think!!!! 

    I know Dr.s misdiagnose all the time.  but I do have a second cousin with albinism so I know it is in our family.  and she does have white hair and is beyond pail.  I just don't want to think she does not have it ( which would mean better vision.) and them come back and tell me something else next week-" oh, now we think she does have it and her vision is going to be low"  I had just come to grips with having a little angel with low vision. I am just afraid to believe something different.

    How do I find out for sure what is going on with my little baby?? And does having no optic nerve damage and no lack of pigmentation in her eyes mean she does not have albinism. Or does it mean she could just have a milder case? 

    Please Please give me some advice!!!

     

    Angie, mom of Allie, Gracie, Nate, and little Sophie w/ OCA
    • Post Points: 20
  • 05-08-2008 9:52 AM In reply to

    • Sunshinegirl
    • Top 100 Contributor
    • Joined on 05-11-2006
    • Ontario, Canada
    • Posts 78
    • Points 1,625

    Re: 2 Dr.s say she has it. 1 says no- please help?!?!

    There are many different forms of albinism. Some present with different symptoms than others.

    To the best of my knowledge, the only sure fire way to test for albinism and type is through genetic testing. That may be the way you want to go next.

    Hope that helps

    • Post Points: 20
  • 05-09-2008 8:56 AM In reply to

    • angie
    • Not Ranked
    • Joined on 03-21-2008
    • BIRMINGHAM, AL.
    • Posts 9
    • Points 285

    Re: 2 Dr.s say she has it. 1 says no- please help?!?!

    Thank you so much Sunshinegirl for the great advice.  I sent you an email too. I am going to tell her dr. today when he calls me back that I want her to have genetic testing done.  This not knowing is driving me crazy because I don't know what direction to go in.  I don't know what the plan of action is. 

    Thank you again,

    Angie, mom of Allie, Gracie, Nate, and little Sophie w/ OCA
    • Post Points: 5
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