Neuro-What!?

As some of you know and some of you don't know my life in this past month has been a mixture of ups and downs. I have been knocked down from my pedestal of thinking everything is fine and I have healthy children. By this I mean that we had Taylor's 4 month checkup about 6 weeks ago. Two days before her appt I was in the gym working out reading a Parent's magazine. There was an article about certain birthmarks on babies and what they mean. Well I came across these café-au-lait spots and realized that these look a lot like some that Taylor has on her back and on her chest. At the appt I talked with my doctor about it thinking that it wouldn't be a big deal but it turns out I'm wrong. These café-au-lait spots are a symptom of neurofibromatosis which Asa's uncle has. When we realized that Taylor is having symptoms of something that is in Asa's family I have started to worry constantly. I have been seeing the kids pediatrician for almost five years now and I have never once seen that concerned look on his face that he had that day. Right now we are busy reading all information that we can about this disease and getting appts set up for Taylor. Once a year she will have to go in and have her vision checked and this last Friday she had her first eye appt. Everything checked out good that day but the doctor also said that he wasn't necessarily expecting to see anything. He said that the Lisch nodules in the eye (extra pigment in the eye) that are associated with neurofibromatosis don't generally show up until a child is between 5-7 so while it was a little comforting to hear that so far she has no problems with her vision at her age but he wasn't expecting to see a problem. Then this past tuesday we had an appt with the early intervention center because people with NF1 tend to have developmental delays. At that appt we were informed that she is behind in certain areas that other children her age do. But there is no way to link these delays she's having to having NF1. They gave me a list of activites that I need to be doing with her to help strengthen her body. They say that she needs to build up her core muscles more and she tends to be a bit lazy and I need to work on more tummy time with her and getting her to put weight on her forearms which she hates doing! With this early intervention center they want to see Taylor once a month for a minimum of 1 hr till she is 3 years old! And today I got the long awaited phone call from the genetics dept at OHSU We are going to be set up with telemedicing through them meaning that Asa and I will go over to the local health dept and we will be able to communicate with the genetics doctor via web cam and talk with him about our concerns and where we should go with all this. I'm hoping that he will want to do some genetic testing because as of right now with NF1 there is no certain test that says yes this is what you have or no this isn't what you have but if she goes in for genetic testing and they find out that she does in fact have the gene for NF1 then it is a more likely scenario that she does in fact have NF1 so that appt is in about 3 weeks.
So there you have it, I'm still a little shell shocked that something could be wrong with my daughter, my little girl. And I find myself thinking about the future, her future. If she does have NF1 if she chooses to have kids she will have a 50% chance of passing this disease on and if she does in fact pass it on her children might not have a mild case like she seems to be having. While I know that I need to focus on the present and not so much about the future I can't help it when my minds wonders sometimes.