A Change in the Game?

When we met with our new geneticist last week I wasn't really sure what to expect. You never really know what you're getting when you meet a doctor, they are all so different. He was wonderful! He treated Elenor so well, like a grandfather would. Playing with her and really getting her to cooperate. He said that she has progressive macrocephaly (big head, keeps getting bigger). This has caused a little pressure behind her eyes again. He also detected a heart murmur. We had another bone age scan done and are awaiting IV team for labs. She will need an EKG very soon too. They had done some more research on her condition. He also told us that they have confirmed that as far as they know she is only 1 of 4 with MUPD2 in the whole world! Pretty neat stuff. They previously thought of 9 but narrowed it down due the specific way I guess her abnormality reacts. He told me that they have an entire folder on her in the research lab at the hospital. This is a HUGE hospital. I think research hospitals are so neat in how they really get down to the bare bones of what is going on. When we had went to the children's we had received stellar treatment but to be honest I was extremely underwhelmed by their thoughts. They had tried to tell us that it was a feeding issue as to why she wasn't growing. Jerks. I don't think it's something I'll ever get over. She is really doing well. Especially mental development! She knows some letters, a few colours, and even likes to count to 4. She knows her age too. I love this kid! <3