Daxton Box

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Sunday, July 14, 2013

Dr. Miller visit

Dr. Jennifer Miller of pediatric Endocrinology at University of Florida was amazing. I had previously tried to get an appointment with her and she was booked until October. That wasn't going to work because she is in Gainesville and we won't be in florida after August... So my Endo from California gave her a call and sure enough she became available last Friday! 

Actually she saw us on her lunch break and she didn't charge us a cent. It was actually really incredible. I can't believe that she did that for us. I'm still I'm awe. She spent an hour of her time with us ($350 worth) and didn't charge us a penny. 

She felt like an old friend and even wanted to meet the kids. I think mostly because she is an endocrinologist and she wanted to see them from a doctors perspective but I was happy to Oblige. 

We talked to her about Savannah's history and she gave us some options. She said there is a marker on some gene that is a mutation only found if they are liking for it specifically.... That could possibly be in Savannah's case. She did not dispute a diagnosis of PWS, nor did she concur, but she said she had many of the behaviors that pertain to it and so she could possibly be a rare form of the PWS.

She referred us to a clinic in Seattle that is doing gene mapping of sorts and that we should all get blood work (Doug me and savannah) and see what comes up. I can tell you this much right now that I HAVE the PWS trait, and I don't even deny it! I know this isn't something to be funny about which is why I'm not being funny.... Savannah gets it somewhere!!!!

She also said there is a drug to help with picking and sleep regulation and hopefully someday a medication to help with the hunger. It is currently being trailed in adults. Happy day! However I'm not so sure I want to drug savannah with a million meds.... Maybe that's bad. Maybe I'm being ignorant and maybe neglectful.... But she is already in some big drugs, I hate to pump her with more :(.

Overall the visit went well and we walked away very pleased with the outcome.

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