Before we said our good bye's to Grandma Audrey, we went to our appointment with Dr. Genes. It was a very long wait because their computer system was down. They had said they would call us when it was our turn (they usually hand out pagers, it's such a large waiting room), but apparently the pagers don't work with the computer system down.
We waited...and waited and waited some more. Finally, a woman approached us and asked if I was Kaylee's mom. I don't know how she knew it was us, since the waiting room had about 50-60 people in it. It was the doctor's assistant, whom we had never met, since it was the first time we had seen Dr. Genes. I guess they had tried calling our house and didn't get an answer. With all the chaos in the waiting room, I guess she just decided to do a sweep to see if there was anyone that looked like a Kaylee in the room that was her age :) They said they had also tried calling us 3x's in the waiting room, but we never heard our name. We were only sitting about 10 feet from the reception desk, so you think we would have heard.
After about an hour and twenty minute wait we were finally taken back to an exam room.
Next, we had a young doc come and talk to us. She was the resident for Dr. Genes. She was a very sweet woman who was very smitten with Kaylee, especially since Kaylee was all dressed up in her fancy outfit complete with her red beret. She gave Ethan a Halloween treat while we discussed our background. We went through the usual questions about pregnancy, birth, family history, etc. Then Dr. Genes came in to examine Kaylee. He practically went over her with a magnifying glass. He was so thorough. He then did a Wood's Lamp test with the help of Dr. Resident who had to go borrow the Wood's Lamp from the ED. Just as we thought, the exam revealed no shagreen patches or hypo-pigmentation.
Dr. Genes wants the entire family to get tested. He said that since her mutation is one that they have never seen before, they will want to do a comparative study with our genes.
So, now the long process of getting it approved through insurance...