Got Gene-tics?

Today was another BIG day in Collin's NF journey. Today was the day met with the Genetics Doctor. Today was the day we got (or didn't get) and OFFICIAL NF diagnosis along with classifying what "TYPE". Now it's no secret that I myself have NF, and so does my sister and my dad and some of his siblings as well as my dad's mother. But NONE of us had EVER been seen by a genetics Dr. NONE of us had EVER gotten an official NF diagnosis. So in a sense today was not only important for Collin but also for all of those in my family with NF..as it is a "genetic" disorder and we would ALL have the same type.

       Anyway Collin's appointment today was with Dr. Laurie Demmer. She was super nice, and after talking to me about Collin's history. I know how much "history" can a 7 year old have? But you know she wanted to know things like how much was he when he was born, how old was he when he walked/talked ect. Was it a "normal" pregnancy and Labor and delivery. Then she asked about family history and I am pretty sure her hand was gonna cramp and that it would have been easier to tell her what does NOT run in our family. I told her as much as I could about who in my dad's family has NF.

   Next Dr Demmer looked at his body examined his CAL's and asked me about mine and looked at my "visible" ones. Including the freckling in the armpit since I had a "tank top" type of dress on. Next it was time to look at the spine. Spine looks great and NO curvature. People with NF tend to start developing scoliosis in the "pre pubescent" ages. We did talk about how Collin tends to turn his left leg in and how his knees turn in when he is running and riding a bike. Upon exam Dr. Demmer did say that she feels like it would be best for Colllin to see a pediatric orthopedist that knows about NF because she does feel that Collin has slight bowing to his left leg.

   I told her about his "tick" and she said what every other dr has said "20% of kids have them" but given the NF we definitely need to keep on top of him and see Neurology (we go July 28th). She did say to me that although she doesn't "THINK" this is what is going on with him, but give the NF that it could be a seizure..that kid with NF some times develop seizure disorders...great one more thing to think about. But I digress we will cross the "Tick" bridge when we get there...and by there I mean Neurology apt.

  In the end we sat down and she confirmed what I already knew. Collin  DOES have NF. he has Neurofibromatosis type 1 (NF1). This is nothing new to us. We knew it from day one, but like I said now it was an important apt because now it is OFFICIAL, it is documented and in his chart.  He has a diagnosis.

  Our next stop on the NF train will come in two weeks when Collin goes back for a vision screening. Should we take a poll to see who thinks he will end up needing glasses? Let's just say that I wouldn't be surprised if he does. If he doesn't that would be AWESOME, but given the recent visual processing disorder diagnosis I am gonna guess there is a good chance he will as MOST kids with a VPD require them....

Oh I did learn 1 thing today that I didn't know. That it is a defect on the 17th chromosome that causes NF. I have said this before having been a special needs teacher and working with kids who are missing a chromosome, or are special enough to have an extra one....isn't it AMAZING what ONE little chromosome can do. Just one little chance that one little chromosome is out of order, and it effects you in such a MAJOR way.

  So that is the latest with Collin. Please keep your comments coming. Share our blog with your friends, and don't forget to "follow" us.