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  The Cain Foundation Forum  Discussion Topi...  General  Have you been tested for BOR Syndrome?
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New Post 11/20/2012 3:26 PM
  Harrison09
24 posts
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Have you been tested for BOR Syndrome? 

Have you or a family member been blood tested for BOR? If so where did this take place? So many people ask me who tests for BOR.... Your information here can help other families in need of more information.

thank you.

 
New Post 11/20/2012 4:03 PM
  sparklybunny21
5 posts
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Re: Have you been tested for BOR Syndrome? 

Yes...after we finally got Isa's dx her genetics doc requested we did to see if it came from one of us. So we did the tests and it came back that neither of us had it or even carried anything for it..so for Isa it happened all on it's own randomly.

 
New Post 11/21/2012 9:53 AM
  melindamfischer
3 posts
No Ranking


Re: Have you been tested for BOR Syndrome? 

We knew at 20 weeks pregnant there was something going on with Lily because of her missing kidney. Her father had some hearing issues and neck cysts as a baby. The Internet actually helped me put the prices together and when she was born I requested genetic testing through her doctor which saw us refered to the genetics department in Halifax Canada. The whole family (on her fathers side) was eventually blood tested and it was found they have a deletion on the EYA1 gene. They had diagnosed Lily with BOR through a general exam and advised only about 40% of cases are confirmed with the blood test. Ours just happened to be one of those.

 
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