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.

A visit with the Pedi

Hi everyone. So last month I told you about Collin's IEP addendum meeting and how we (the IEP team, Dr.Davis and myself) thought that we should follow up with Collin's Pedi Dr. Osterov. Well there was a bit of delay in that because I had to wait for the Progress notes from the OT. Well they finally came in on Tuesday which was Collin's last day of 1st grade!!!!! I called our Pediatrician and got an appointment for this past Friday (June 22nd). The apt went well. Collin weighed in at 51 lbs and is 3feet 10 inches. That makes him 45% for height and 25th% for weight. Dr. Osterov did a quick Neuro eval and all and all he looks good. Gross motor strength was average, and there is some definate deficit in fine motor and a loss of strength there, but we knew that...that and the "tick" was our reason for the visit. I should clarify that we didn't make this apt to gain anything from it, just to make sure it was documented in his charts and that Dr. Osterov was in the loop.

   Anyway, we discussed the loss of strenght and the tick. Dr. Osterov shared with me that kids that have ADD/ADHD some times have ticks..actually it's one of the side effects of some stimulants that are given to kids for add/adhd. Although Collin is NOT on anything for it...as right now he is just considered borderline ADD that this is what could be causing the tick. Dr. Osterov said that the part of the brain that controls impulsive and things like ADD/ADHD and the part of the brain that most "ticks" are in are right next to each other and this is why they go hand in hand..the brain is making them BOTH fire off.

   She did say that she finally see what I mean by he is strong yet has low muscle tone...and was able to see both the "tick" and the turning of the left leg herself. She of course wants us to continue with the plan of extended school year and keep our neurology apt. Which is at the end of July. Dr. Osterov said that given that Collin's weakness is symmetrical and that he hasn't had issues with severe headaches that she has her doubts that any of these symptoms (the tick and loss of muscle tone) are from a fibroid (tumor) on the brain. She did say she wouldn't rule out the spine, but we will cross that bridge with Neuro.

So that was that!

  Tuesday we have an apt with Dr. Demmer who is the genetics Dr. This is our first meeting with a genetics specialist, so I am looking forwards to that. I assume it will require blood work and family history..but am looking forward to getting our kind of NF classified. It won't only help Collin, but will give some answers to me, and my dad, as we will all have the "same kind". So look for our post on our apt in the coming week.


Oh and I wanted to take a little brag moment. Like I mentioned Collin is officially a 2nd grader. This was a TOUGH year for him, but he worked so hard. Last semester on his report card he had mostly 2's and 1's. This one he got Mostly 3's and a few 4's. We are so proud of how hard he worked. You best bet those grades didn't come easy for him...and although he still has a long way to go the leaps and bounds he made this year make me so happy.

My handsome man on his last day as a 1st grader!!!!!