Wednesday, March 23, 2011


So as alot of you know, I have been getting pretty frustrated over the past couple of months with Lucca's geneticist... for numerous reasons that include not EVER returning a phone call... ever.. and several other reasons.. but I won't go into detail.. Basically we just haven't felt great about him (although our first visit with him was phenomenal...weird I know)
Anyway, I have been told by several friends to try the geneticists at UF Gainesville.. So I took it upon myself to e-mail all of them directly.. lol The e-mail simply asked if any of them were familiar with or had even ever heard of Phelan-McDermid Syndrome because I didn't want to make an appt to drive to Gainesville to be told that they weren't familiar.. One of them e-mailed me back telling me that he didn't feel comfortable discussing anything over e-mail and to make an appt with him.. Then this afternoon another one called me at work! We played phone tag for a little bit and then when we finally spoke he told me that he WAS familiar with PMS and that he knows the doctor that it is named after (Dr. Phelan) and he is actually treating/has treated a few kids with it! He told me I needed to register with the foundation (which I have already done) and that I needed to attend the conference in 2012 (which I am planning on doing) and that he really feels like he could help relay information to us and that he WANTS to treat Lucca and he knows how rare of a syndrome that it is and that he WANTED to help us :)
I asked him how I could go about making an appointment with him (which usually you have to wait months to get in with a geneticist) and he said that he was actually going to be in Jacksonville on April 6th working out of a Peds Developmental Clinic and he is already booked for the entire day but he would get his counselor to call me and fit me in if I would be able to make it.. Umm YAH! How awesome! I really hope this guy isn't too good to be true because this is the best news that has happened to us in a while and I am super stoked!! I hope he is able to give us more than what we know and is able to help us :) I am going to try and stay hopeful that he is the answer to a prayer!

1 comment:

Miranda said...

That IS an answer to prayer!! I'm so excited for you guys!!!! :-) Keep us updated!!