This is the story of our son, written by his father, who was diagnosed with a trisomy 17 disorder at the age of 4 months, on January 9th 2012. At the time that he was diagnosed there was very little information online, and only a few first hand accounts of how this disease had affected a child, so I wanted to share our experience so that it might help other parents that find their children in a similar situation.
Tuesday, February 5, 2013
Wrong info
So this is part of why I was so hesitant to disclose Joey's genetic disorder to friends and family until we had more information. Today we met with the developmental pediatrician and discovered that Ashley heard wrong. She thought the PT said Trisomy 17, when in actuality she had said Trisomy 16p. To be more specific we found out that he has a partial duplication of the P arm in the 11.2 region. The good news is that it's a very small duplication, ~280kb, and the complications tend to be less severe than with 17.
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