Update on Olivia's NF1

Neurofibromatosis, NF1

Kurt stayed home with Austin and Nyah, and I headed for Primary Children's bright and early with Olivia and Jolie. Our first appointment was with her pediatric opthamalogist (eye doctor), Dr. Dries. On previous visits there was no evidence of NF1, but in today's visit he was able to confirm lisch (pronounced leash) nodules, tiny tan bumps on her iris, but no evidence of any optic gliomas (tumor on optic nerve). So, good results. They put eye drops in her eyes to dilate the pupils so she looked weird all day, and she's sensitive to light. I have a movie character in mind with completely black eyes, pale face, black hood that I just can't place, but her eyes remind me of him.

Then we had a few hours before her next appointment so we drove over to the Tracy Aviary to check it out. I've never been (at least I don't remember) so I wanted to see what is was like, and it would have been lots more fun with Austin, Nyah, and Kurt top be excited about all the birds I saw, but it ended up being a short visit for us because Olivia was too cold, so I figured Jolie was probably too cold as well. Then while Jolie napped in the car Olivia and I played on the playground. Pictures to follow.

After grabbing lunch we headed back to the hospital. Her next appointment was with Dr. Viskochil. The link is for the Genetics page, because I couldn't find a profile for Dr. Viskochil. Anyways, good restuls here too, as in nothing major. He found several surface neurofibromas, basically places where her skin is raised, but they aren't itching or causing pain so they just keep an eye on them at her yearly visits. I tried to find a good picture of neurofibromas, but they were all really scary looking and not at all like Olivia's, so if you look it up just know her's aren't like that at all. Her's just look like a bump under the skin, maybe the size of a few rice grains.

He found a depression on her skalp, and says its common for bone density problems, but ther eis bone all the way through so its not something to worry about. He also felt like she has slightly low muscle tone. When she stand, her belly pokes out and her back curves forward, mostly like someone standing with bad posture, but in her case its low muscle tone that is common in kids with NF1. He talked about a future study of putting kids with NF1 on an exercise program, because exercise would help, but it won't start for a year or so, and she's probably too young, etc. Finally, something I can do about this whole thing- more exercise!! With spring here and summer on the way Olivia will probably love exercising (playing) more. She already likes to walk on the treadmill we'll just kick it up a notch. (I'm kidding and I'm not-- I just thought how he talked about an exercise regime for kids was hilarious- all serious and doctor-like!! But really I can make sure she's being more active).

He was a little concerned with her blood pressure reading- 110/57. The 110 is a little high for her age (95th percentile), especially as she wasn't reacting in any way to the blood pressure cuff. She sat very still in my arms and didn't cry or fuss at all. Also while he was examining her he noticed her heart was beating very fast. We watched it through her ribs. So over the next year whenever we go to her regular doctor's office he wants us to get her blood pressure taken so they can plot it, keep an eye on it, etc. He said there is a rare complication where a neurofibroma can be on the blood vessels leading to the kidneys, that cause the kidney to release a hormone, give her high blood pressure, and need further medical attention, etc.. Yes, thank you doctor for taking the time to explain the worse case scenario, I really wanted to NOT know.

Kids with NF1 tend to be less coordinated, have speech delays, and can have learning disabilities. Right now I would say she's a normal 2 year old-- lots of tripping, falling, and banging her head on things, lots of mispronounced words and guessing at what she's saying, so there isn't any way of knowing what, if anything, is NF1 related.

We talked a little about doing the blood test to get absolute confirmation, but where she now has 4 of the 7 signs there isn't any point in spending $1500 to do it. A good listing of the 7 signs can be found here, Olivia has #1 cafe au lait spots (nicknamed Spot/Dot by Kurt), #2 surface neurofibromas found today, #3 freckling where the sun doesn't shine, and #5 lisch nodules on irises.

Aside from noting new freckles and cafe au lait spots, that was the bulk of the visit. And I guess the bulk of it was good news. Yuck, I hate that. Yes it was good news, but a small part of me wants to curl up in a ball and cry. Its real. She really has NF1- today's visits only further confirmed it. This will always be a part of her life. I will always have this worry when she complains something hurts that its more than just a banged knee, or if she falls a lot in one day its more than natural clumsiness, or that someting more serious is around the corner.

Yuck. Well, aside from that little part of my brain that makes a note of things to discuss at our next visits, the rest of me can just forget about it until next year, and focus on letting Olivia be the beautiful, sweet, terrible 2 she is.