Olivia NF1 Update ~ Dec 09

So this update is a little early - normally Olivia sees her specialists once a year and we saw them in March 09, but the CT scans that were done at the time of her accident also showed that she had an optic glioma (tumor on optic nerve) behind her left eye, which is a new sign of her NF1 (Neurofibromatosis Type 1). A blessing in disguise?

So, November 30th Olivia had an MRI to check on her head injury, but primarily to get a clearer picture of the optic glioma. We've suspected she's had NF1 from when she was 3 months old and she was officially diagnosed around 9 months old. Because she doesn't have any major outward signs and she has been developing normally, its the type of thing that just doesn't come up in conversation, so I know it has been a surprise for some of you to find out about it.

In March 09 I did a post about Olivia's yearly check up. Basically there are 7 major signs for NF1--A listing of these can be found here.

Olivia has:

(1) cafe au lait spots- basically birthmarks. She has several that are bigger than two quarters placed together and lots of smaller ones of different sizes. These started appearing when she was 1 month old and will likely continue to appear. I asked her pediatrician about the first of these when she was 2 months old and he recommended we see a genetics specialist.

(2) surface neurofibromas- if you look at pictures of these online they are freaking scary and Olivia's don't even remotely look like them. The doctor pointed out 2 possible ones, they are small, slightly raised bumps, maybe about the size of a grain of rice. I'm never sure I'm even looking in the right place. These were found at her March '09 visit.

(3) freckling- in her armpits and groin, pretty much where the sun doesn't shine. Also started appearing from a very young age. This was the 2nd sign that confirmed the diagnoses when she was about 9 months old.

(4) Optic glioma- this is what was found in the CT scans we did for her head injury, on the optic nerve of her left eye, Nov 09. This picture is similar looking to Olivia's.

(5) Lisch nodules- small, raised bumps on the iris of the eye which don't interfere with sight or cause problems. Picture here - These were also found at the March '09 visit, and aren't visible to the naked eye.

There were also a few other things that the doctor talked about in March '09 that he attributed to NF1, such as low muscle tone. The doctor felt her belly was sticking out more than a toddler's would naturally, a result of the muscles not being as strong. I will also say that she isn't as physically coordinated as my other kids. She's a really awkward runner. But I've never felt that this is completely due to the NF1, because not every kid is going to be an athletic super star. There can also be learning disabilities, but she has been meeting milestones for her age so we aren't worried about this.

Soooo, the MRI results- we did the MRI on Monday, I talked with Olivia's neurologist on Tuesday, and we saw her pediatric opthamologist on Thursday.

The neurologist said her optic nerve looked slightly enlarged or thickened, and as long as its not affecting her sight or pushing her eyeball out she wouldn't need any form of treatment (treatment options would be surgery, radiation, or chemotherapy- but these would only be necessary if its affecting her in an extreme way). Also, because we know she has NF1 she wouldn't need a biopsy.

The opthamologist. Hmmm, I will start by saying that by the end of this doctor's visit I was thoroughly tired of doctor-talk. He was so technical that all his explanations just didn't stick in my brain. So, I still can't remember all he was trying to tell me, and I plan on requesting a review of this appointmet, and I think he usually sends out follow-up letters for each visit anyways.

Here are some of the main points I do remember:

(1) The optic glioma is not affecting her vision or pushing her eye out. He said we would just continue to monitor it, see how fast it grows, if it begins to affect her vision, etc. So we will go back to see him in 2 months. He made it seem like it is really small, and it even could have been there on her previous MRI (at 9 months old), but just undetected. I really wanted to see the MRI for myself, and the other doctors involved had given me the impression that this doctor would show it to me, so I was really disappointed that he wouldn't let me look at it, and this seemed to be more of a "not enough time" issue for him more than anything else. I was shown CT scans while Olivia was in the hospital and the optic glioma looked HUGE to me, and I was able to see left eye vs. right eye, so I really wanted to look at the MRI with someone who could say "this part is the glioma, this is the nerve, this is how it might affect her vision, etc." Very disappointing, but I'm thinking when we go see her genetics specialist we'll be able to do this.

(2) Treatments (surgery, radiation, chemo) are avoided, unless the risks of the treatment would outweigh leaving the optic glioma alone. He was really the first doctor to make this clear. Everyone else (neurologist, oncologist, and all the others we saw when she was in the hospital for the skull fracture) acted like this was something that needed to be treated ASAP!!

(3) Her left eye isn't focusing correctly so he gave us a perscription for glasses. He said this is unrelated to the optic glioma/NF1, but I don't think that makes sense. ???

Anywho, that's the gist of it all for now. I'll post more when I get more info.

Thank you everyone for your thoughts and prayers for our sweet girl.