Our family's journey with deaf-blindness, multiple disabilities and undiagnosed genetic disease...stories, updates, mental notes and spiritual reminders to help our family stay grounded in faith and focus on the facts as we navigate the mysteries and uncertainties of our little boy's health.
Tuesday, March 22, 2011
He Loves His "Buzzy Puppy" :)
"A cheerful heart is good medicine..." Prov. 17:22 NLT
Uncle Tim requested a vid of Mason laughing ;) Enjoy!
Hello! We are so glad you found us. Mason is just adorable. So to try and answer your question, Sawyer was only ever clinically diagnosed with RTS based on the thumbs, hairiness, broad forehead, downward slanting eyes, etc... After the pediatrician noticed these characteristics, he referred us to a geneticist for confirmation. After doing an evaluation, the geneticist strongly confirmed the diagnosis and gave, as an option, the chromosomal test for further confirmation. We decided that based on all the evidence that we didn't need further testing. The geneticist said that the broad thumbs are pretty specific to RTS (something to do with the way Chromosome 16 affects thumbs).
We are here to help and offer up our prayers. We hope that you find the answers you are looking for soon.
There are no words.....just adorable :)
ReplyDeleteSoooooooooooo precious!
ReplyDeleteI love this...thanks so much for sending this! This makes me smile!
ReplyDeleteHello! We are so glad you found us. Mason is just adorable. So to try and answer your question, Sawyer was only ever clinically diagnosed with RTS based on the thumbs, hairiness, broad forehead, downward slanting eyes, etc... After the pediatrician noticed these characteristics, he referred us to a geneticist for confirmation. After doing an evaluation, the geneticist strongly confirmed the diagnosis and gave, as an option, the chromosomal test for further confirmation. We decided that based on all the evidence that we didn't need further testing. The geneticist said that the broad thumbs are pretty specific to RTS (something to do with the way Chromosome 16 affects thumbs).
ReplyDeleteWe are here to help and offer up our prayers. We hope that you find the answers you are looking for soon.
Love the Peacock Family