Annual Genetics Appointment

Today was our marathon genetics/doctor appointment day. It was CRAZY!

Geneticist:

I wasn't too worried about Cameron, except the new growth on his cheek. Instead we found out that Cam has hyper/over-active reflexes. They were so over-reactive today that the doctor worried that the tumor on his spine might be causing the neurological side-effects. He thought it would be a good idea to see a neurologist. Unfortunately, neurology is usually booked for months in advance, and since we're from out of town, he didn't want to make things difficult on us coming back for another appointment. He called them for a quick consult to see exactly how concerned we should be. When he came back to the exam room he looked relieved. He told us that Cameron's reflexes WERE tense, but they weren't something to worry too much about...YET. He said, given the circumstances, we should be fine seeing the neurologist next year when we do our visits.

And about his cheek, tumors that grow on the outside, or close to the skin like the one on his cheek and on the bottom of his foot, they RARELY turn cancerous and if anything, they cause cosmetic problems, but no pain or BAD things.

NF1 Study:

Sometimes they have to take his blood, and he freaks out. They didn't have to do hardly ANYTHING with the kid, just x-rays. Thanks to this study we DO know he has a very VERY slight scoliosis (caused by the plexi-form neurofibromas on his spine) and we do need to keep an eye on it, but nothing big. *phew*

Opthamologist:

This was almost completely routine and relaxing. We knew what to expect (initial eye evaluation, doctor checking his vision, dilatation drops, wait, another check on the back of the eye, new prescription, outta there...) Those danged dilatation drops make him scream and squirm EVERY time. Punk. Instead of getting just ONE drop per eye, dealing with the burn, then letting it go, I and the nurse had to hold him down and PRY his eyes open, dropping sometimes 3 drops on the eyelid before it got IN his eye.

Overall, his eyes have made a VAST improvement. Maybe the fact that we make him wear croakies on his glasses so he HAS to look through the lenses instead of over the top has made the difference, ya think? The eye doctor was VERY impressed with his vision!

NF1 Study:

This one was a study on movement and general "clumsiness." This was in a completely different hospital from the ones we usually visit, and was a whole new experience. Cam thoroughly enjoyed doing THIS study...no poking or prodding, and he got to exercise and PLAY! The guy who was helping him was SO patient (more so than I would have been, repeating instructions over and over...) and by the end of the study, the two were "buddies."

Watching this study, I learned how truly uncoordinated Cameron is. Not only that, but he just CAN'T do certain things. They just don't compute in his brain. He did the best he could, and had a ball!

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The whole day was busy, and a blur....I'm glad it's over. Our only homework was to call our pediatrician and have HIM check on Cam's reflexes and the scoliosis. That way if anything major happens, he's up to date with the specialized doctors. That, and our usual admonition to take any pain that Cameron has, that keeps him awake at night and that lasts for DAYS, seriously; and to let the geneticist know; and take him in to the hospital immediately.