If you are behind on the latest Sebastian news, I'd recommend reading my previous blogs about the subject, otherwise I imagine this will...
The First One
The Second One
The Third One
In my impatience to get the results, I called the geneticists office on Friday to see if they had them. I know how things pile up on people's desk, so I figured there was a chance they had it and just hadn't called us yet. And I was right. As we suspected, considering they said there was a 90% chance he had it based on his symptoms, his test showed a change in the NF1 gene, meaning he does indeed have neurofibromitosis.
The genetic counselor was who I talked with and she was of course very reassuring that everything was going to be fine. She pointed out that, had the test been negative, there were other, more serious disorders on the list that they would've needed to test for. So in reality this was a good thing. As much as I felt a twinge of anger at her optimism in that moment, I knew she was right. Things could be much, much worse.
So what's next? An eye exam to verify there are no tumors on the optic nerve. Seems like he'd probably have vision problems if this were the case, which he definitely does not, this child sees everything! But it's better to be sure since some people do not have symptoms. We decided to stick with OHSU (where the geneticist is) for the opthomologist since they are all pediatric specialists and even the receptionist knows what NF1 is, so at least we'll have doctors that know what they're looking for and how to look for it on a 3 year old. They said the appointment can take 2-3 hours, because they have to fully dilate his eyes and that can take up to an hour. I can't imagine how to get him to sit still long enough for them to be staring into his eyes for this, but that's why we're sticking with the specialists! But being the better doctors, they were booked until April so his appointment isn't until April 15th. If everything looks good, then we'll be done with doctors and tests for a whole year. Then it'll just be a yearly check-up with the geneticist and the eye exam, to make sure nothing's changed.
I keep reminding myself of the statistics. Only 15% of people with NF1 get tumors, and only a small percentage of them need operations. So there's an 85% chance he'll go through life without any problems from this disorder. It will just be a note in his medical file and the yearly check-ups. It really could be a lot worse.
About author: Melanie
Mother, wife, web developer, writer. I blog about my life as an anorexia survivor, depression battler, being a mother to 2 boys, 1 with NF1, living healthy, and much more!