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.

Salt Lake Again....

Our yearly trip to Salt Lake for Cameron's genetics appointments is OVER! YAY!! So far, he's fine. We wait to get the results from the MRI, but I'm sure he's okay!

We left town Monday evening-ish. We had originally planned on leaving town as SOON as Cameron got out of school, but my grandpa (my dad's dad....) had fallen that morning. Grandma Sue wasn't sure what had happened at first and called my parents' house to get help lifting him up. They think he had a stroke (or a series of mini-strokes) and he was in the hospital until today. Monday was spent getting family notified and spending time with Grandpa in the hospital.

We didn't get into Salt Lake until WAY late, and we were worn out. (I went with my mom...the usual helper....and my uncle along with my boys.) We checked into the hotel that I had previously made arrangements for, and went to our room. It was ALL wrong!! This place has two kinds of suites, studio suites (with ONE queen sized bed) or a town-house (with two bedrooms.) I went to the office to get things fixed (which they did QUICKLY, sign of a good business!) and then we crashed for the night.

Tuesday we mostly stayed in Primary Children's Hospital doing tests. Cameron was fine, for the most part. He did his obligatory whine/tantrum in the ophthalmologist's office. (It took me and a nurse holding him down to get the OTHER nurse a chance to get the drops in his eyes for dilating.) Thankfully, no new symptoms to report. *Hallelujah!* We did go and do another back x-ray for his research study he's apart of, and he got $50 worth of gift cards for his participation. (He feels SO rich!)

Then we decided to visit my grandpa (mom's dad) who lives with my uncle. I'm not quite sure what I think of his living situation right now. He seems content, but then again, I'm pretty sure he'd be content where ever he lived. (This grandpa is the one who has dementia. He doesn't even remember that his wife died half the time.) He lives in a teeny corner of a large bedroom of my uncle's house. I really don't want to say that it wasn't fun, because I LOVE LOVE LOVE my aunt, uncle and cousins, but their house is so jam packed full of THINGS that there isn't much room for my grandpa and all of HIS things. I'm a bit conflicted over my feelings with this situation. Stay tuned....

We actually went out to dinner with my grandpa and my other aunt's family. We laughed and had a great time. Grandpa seemed pretty with himself at times, but at other times he was questioning everything. Every time he sees Jake he thinks it's a new baby that he's never seen before.

After dinner we went back my uncle's house and watched some OLD home videos. The video was nearly 20 years old!! I just laughed!! Then we went back to the hotel and crashed again.

This morning we woke up WAY early and took Cam for his MRI. (He gets an MRI to monitor some plexiform neurofibromas that are growing on his spine.) Because my son is a wiggle-butt, he has to be sedated. Usually he has grandma hold him for his IV and take him back to the room. This time, Grandma stayed with my uncle Aaron and Jake while I went back with Cam. He was freaked out the whole time....worrying about the poke for the IV. When the time finally came, he was a WRECK! He screamed over and over that he wanted Grandma, but he was stuck with me. After taking him back to the room where they gave him the sleepy medicine, I went out to the waiting room and....well, waited.

After 45 minutes, a nurse came out and said that Cam was waking up early. I went back to recovery (where they only allow ONE adult per child) and saw him flailing on the bed and moaning. I tried to console him, but it wasn't happening. During the MRI Cameron started waking up early, so they gave him some extra medicine that really made him loopy. He couldn't control his mouth to even form words. The poor guy was a miserable mess, and was so hard to keep under control. After a while of trying to comfort the boy, the nurse said that if we could get him to a place where he could sleep comfortably, he'd stop being so cranky and she decided to discharge him. (He was only in the hospital for 2 hours!) We did the discharge and left as quickly as we could.

Overall it was a busy trip, but it wasn't as bad as it could have been. I'm just glad to be home!

Here's a few interesting pictures.

This one is my dad's dad (the one who had the stroke) on Saturday. He had very little feeling on his left side of his body. (The doctors didn't find any blockages, so they're not exactly sure what happened to him.)

This one is my mom's dad at my uncle's house.

Happy News

I got a call from Cam's geneticist yesterday and ALL is well!! His MRI showed very little change (the tumors are growing with him, and not out of proportion, which would signal problems!) We don't have to visit that doctor again until next fall!! YAY!!!

Annual Check-ups

We're going to be going to Cameron's annual genetics appointments on Monday. I've learned (through my 4 years with making genetics appointments that are FAR from home) that it's easier to get as many appointments scheduled at one time as possible.
So on Monday we are having his opthomologist appointment. At THIS appointment they will check his optic nerve to make sure that there aren't any tumors growing there. It's also handy as his annual eye check-up. Two years ago we learned that the poor boy inherited his mama's awful eye-sight. He has astigmatism and is slightly near-sighted. This time we're hoping that the glasses we get for the boy will sit better on his face! (That's OUR choice though....not the doctor's!)
The genetics clinic is only open for appointments on Tuesdays, so Tuesday is our genetics clinic day. His doctor has been with us for YEARS! We started seeing him when he was still a student. But he has since graduated and become a bona fide doctor! I absolutely LOVE this doctor. He's more concerned with Cameron's well-being than his regular pediatrician!! Seriously, this man is WONDERFUL!! He's given us his direct line if there's ever ANYTHING that happens! I wish he was our regular pediatrician, but since he's there and not here....

Cam will also be getting some tests done for some research projects. Since there are varying degrees of NF1, they want to see if certain forms are linked to other things or if having a certain form of NF1 precludes you to getting something else. An example: they have found that many people with NF1 have scoliosis (curving of the spine) and they want to see if it's linked with one type of NF1 more than the other. There are two ways to detect NF1 in DNA, either a mutation of the gene or a gene deletion. Cam has the gene deletion. Because of these tests with the research lab, we've discovered that Cam has a SLIGHT curve of his spine, and we went back for MORE testing to find out exactly why. When we went back, they did an MRI. Doing an MRI on a child this young requires sedation, which isn't very fun! At his initial MRI they found that he had some items "of interest." At the second MRI they discovered that the items of interest weren't just malfunctioning lymph nodes, but actual plexiform neurofibromas (tumors caused by NF1).

Thanks to the discovery of these tumors, we need to keep an eye on them to make sure that they don't change and become fast-growing and possibly cancerous. So, on Wednesday we'll be doing our third MRI. We've learned, from previous experience, doing the MRI early in the morning is best, so we'll be ready to go at 6:30 in the morning!! Uh, yay!? But with this being the LAST appointment for this trip, we can leave for home as soon as my child is coherent. (And by "coherent," I mean awake, but tipsy!)

I'm planning on documenting this trip, so anyone who wonders about my trips or the things we do, will have a better idea of what we do! I want to video tape the boy once he wakes up from his sedation, so you can see his drunken-demeanor. (I know, it's not very nice, but it makes me giggle with how much Cam thinks he's in control, but with how LITTLE control he actually has!)

So if you wonder about me, that's where I'll be. Don't worry, you WILL get the update...when I feel up to it! ;)