The geneticist sent a follow-up letter about Sebastian's results with a little more information. I think it was intended to be a review of what we'd discussed in his appointment. But a piece of information jumped out at me and caught me off guard. It said that most people with NF1 develop neurofibromas, or tumors on the nerve sheath. I had been holding onto the statistic that only 15% of patients develop tumors so this didn't sound right. Did I totally misunderstand what they said? Was Sebastian going to get tumors? I called the genetic counselor to ask about it.
The geneticist did say a 15% statistic, but what I misunderstood was what tumors she was talking about. It applies to the optic glioma, or tumors on the optic nerve, which is what the eye exam will be looking for. During this phone call I remembered the discussion in the office, we were discussing brain tumors specifically, and she said these are usually the only kind that arise in NF1 patients and they are rare. So while this is good news still, the bad news is that most people with NF1 do indeed develop the neurofibromas. They usually start developing around puberty and can continue their whole adult life. They can end up with only a couple or they can have a bunch, there's no way to tell and no way to prevent them. They do not cause any pain or issues, they are not cancerous, and they do not usually need to be removed. It's just a cosmetic issue.
We sigh with relief when we hear something like "just a cosmetic issue". But when you think about what that means for your teenage years then there is no sigh of relief but instead a knot forms in your stomach. When my child's a teenager he might end up with tumors all over his body? Ok well maybe we can hide most of them with clothes. What about sports and gym class? Kids (and adults) can be mean, there's no argument there. I cringe to think about what could happen to him. What about when he's an adult? Even as adults, most of us are self conscious over minor things, fat, stretch marks, cellulite, freckles, moles, zits, imagined blemishes of nothing. Imagine having something like tumors to add to that list and it's hard to picture having a healthy adult relationship. Let alone, even if he finds a decent human being, he'll have to worry about the fact that there's a 50% change he'll pass it on to his kids.
How can I possibly raise him to have enough self-confidence to not let any of this bother him? I have no idea, but I'm sure going to try my hardest. Step 1 is to not think of the worst, because we truly do not know if it will be bad or not. Step 2 is for Brian and I to have as much self-confidence as possible so that he has good examples to watch, because let's face it, "do as I say, not as I do" never really works, no matter how much we wish it did. And Step 3 is of course to continue reminding myself that it could be a lot worse.
The letter also reminded us that they do not think Brian or I have this disorder, but there is still a 1% chance we could pass it on to our children. They say a batch of eggs or sperm could have the mutation, so even though we don't have it, we could still have more kids with it. Is 1% enough to even worry about? I think not.