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Tuesday, November 22, 2011
Sawyer's Genetic Testing
Sawyer is always smiling! And this was after we spent a long day at Texas Children's Hospital for genetic testing! He has a few spots called Cafe au Lait spots. These spots can be symptomatic of a neurological disorder called NF1 (Neurofibromatosis). We spent a few hours with genetic counselors, some kind of eye specialist from the NF1 clinic, and a genetic doctor. They said Sawyer has a large head in proportion to his body and this too is a symptom. His height is the 25th%, weight is 34th%, and head is 67th%. He is advanced developmentally so that is a good sign. The eye specialist used a special tool to look for spots on his eyes, but his eyes were clear. The doctor said he didn't expect to see the spots because he is so young, but they just wanted to take a look. It will take six weeks for the results. They said if it is negative for NF1, they would like to send it for further testing. Which will of course mean more waiting. But we are hopeful that this will just be a process to rule out NF1 and we can all go on without any worries! Look at him - not a worry in the world!
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