Ophthamologist Appt

Anna has an appointment with an Ophthalmologist on Tuesday, July 28th at 10AM.

I guess I'll explain things a little better now. Neurofibromatosis (NF) is the most common type of neurological genetic disorder there is supposedly. There are a couple of kinds...NF1 is what Anna has. THIS is a good thing in comparison to the other choices. NF1 is usually relatively mild. The pictures you see when you use google images are absurd. Yes, SOME people's NF1 is that severe. MOST people live semi-normal lives. NF1 patients are at higher risk of skeletal issues like tibial bowing (it's usually caused from thinning of the bones) and scoliosis. They're also at higher risk for tumors (all kinds, but brain tumors are relatively common). Three to five percent of these patients with tumors end up with cancerous tumors. As far as the brain tumors go....the neurologist told me that the "normal" tumors they get are benign and usually don't cause anything more than some mild discomfort if that. Sometimes they get tumors that come and go, which isn't so normal for the world outside of NF, but it's fairly common in NF1.

Anna will be monitored with MRIs yearly and as needed probably for the rest of her life (or until she's old enough to understand when to go in). She'll also be special in that if Anna starts complaining of shoulder pain or knee pain etc etc they will not hesitate to give her a scan to look for possible causes of the pain -- she'll never get sluffed off and told "it's just arthritis" without a slough of tests to prove so. If Anna gets headaches, Anna gets an MRI.

The reason for the Ophthalmologist: They are checking for Lisch nodules. Lisch nodules are these little tiny little benign tumors in the iris of the eye. They don't cause pain, vision loss/impairment, irritation.. anything. They're just there. Something like 90%+ of NF1 patients over the age of 6 have them. It's just another diagnostic criteria. Anna is only three and not all NF patients get them so it's possible this test will be clean... this doesn't mean she doesn't have NF1... it just means she doesn't have Lisch nodules lol.

There are a whole list of other problems that come with NF1, but most are either A) rare OR B) mild and easily dealt with.

Anna will be at higher risk for learning problems and delays (for whatever reason NF1 patients have a higher rate of this). She'll also be at a higher risk for ADHD, which is very common in NF1 patients. Something like 50% of NF1 patients are diagnosed with ADHD.

The Pedi Orthopedic is going to call me back today or tomorrow (MY guess will be Friday LOL, you know when they say 48 hours they mean 72) and tell me where we go from here with Anna. She's already seen them once regarding her in-toeing but I was told that if she did get the NF1 diagnosis there were possibly other scans they needed to do to check for some other skeletal things. This is another area where she'll be closely monitored for a while (at least until puberty).

Ok, I just thought I'd explain things a little better. I really wasn't in the mood the other day but I thought saying she had it then leaving you to google the horrific images on the net was probably a bad idea. Thanks for the love and support :)