The Saga Continues

At almost 6 months postop, when finally I am almost back to life as it was "before", there is the possibility that this may just have been the beginning.
Brodie, my 18 month old daughter, was referred to pediatric genetics by her pediatrician because she has a number of "cafe au lait spots"- those kind of extra-large, flat, freckle type spots. She was only born with one that I know of, but then over the months I've discovered two more. As it turns out, having more than 5 of these of a certain size is a diagnostic criteria for neurofibromatosis 1 (NF1). Having more than one vestibular schwannoma is a diagnostic criteria for neurofibromatosis 2 (NF 2). Additionally, I have a family history two generations up of multiple meningioma tumors in one family member, which could also be related to NF 2.

So today I packed up the diaper bag full of toys and snacks and juice and took the kids into the city to see the genetics people. The doctor checked out all of Brodie's skin and found a number of spots, 4 of which fit the criteria for a spot of concern. So, not quite enough to be diagnosed with NF 1... yet... but kind of on the borderline. For me, I only had the one tumor... so far... so I don't quite meet the criteria for NF 2 ... yet. I'm only 24, so there's plenty of time for more tumors to grow. There is enough history and borderline things that they said "Do we believe in our heart of hearts that [your family member's] tumors and then yours are just coincidence? No."

I asked about the relationship between NF1 and NF2, if any, and basically there is none. They are caused by mutations (specifically, deletions of tumor suppressor genes) on totally separate genes. However, the symptoms can kind of cross. So, though the diagnostic criteria for NF1 includes more than 5 cafe au lait spots of a certain size, and the diagnotic criteria for NF2 includes bilateral vestibular schwannomas, people with NF1 can get schwannomas and people with NF2 can get cafe au lait spots.

Does that make sense? I think that's how they explained it to me. I wish now that I had had someone else come with me to take notes and ask questions, as it was a bit much for me to absorb.. especially while Brodie rearranged the chairs in the room and Benjamin tapped me on the shoulder to ask "Guess what's behind my back?" But, since I avoided making the appointment for two weeks (if I just never do it we never have to find out something's wrong, right?), and then they had a last-minute-cancellation next-day appointment open up when I called, there wasn't a lot of time to plan these things.

Anyway, the next step is for me to get DNA testing. They kind of offered it as a choice, but it's something I definitely want to do. Especially because there is a whole generation that hasn't shown any symptoms so far, that may then need to get checked out if I do test positive for something. And of course we'll then test the kids if I'm positive for anything. If I'm not, then we'll jsut keep bing on the look out for weird things. The test is about 75% specific. Before I do the testing, though, I need to call insurance, because it's $1260 if paid out-of-pocket.
We also need to get my records from Dr L to see if I'm checked out for cataracts (also related to NF) and take Brodie to an eye doctor for the same reason. There's some sort of eye nodule that if she has it, it will be enough to diagnose her with NF1.

*sigh* I've said all along that I'll be okay as long as the kids are healthy. I don't even want to think about my babies in an MRI machine. I'm guessing they'd have to sedate them? Ugh, let's not think about it until / if we have to.