Neurofibromatosis

What. a day. I am exhausted. Where on earth to start. Let's take advice from Lewis Carroll:

So, I have been officially diagnosed with neurofibromatosis type 1. (Henceforth NF1).

Rob and I taxied in the blustery snow from our hotel to Guy's Hospital at London Bridge which is apparently a specialist NF hospital. We grabbed a quick brekky and headed up to the NF department. We only waited a little while and I was taken into a consultation room.

The Professor asked me loads of questions, visually diagnosed me and ran a heap of neurological tests. She could diagnose me just by looking at me because of my fibromas, café au lait marks and lots of moles. My case is *very* mild apparently and they want to see me for a follow up in a year (I had to bite my tongue to say "if I'm alive" - morbid I know!) depending on what my latest scans show.

I've had the marks etc (which have never grown or changed) since birth and the only reason I was told to investigate it was because when I had a brain scan *something* showed up. The oncs decided it wasn't mets but were befuddled as to what it could be. So they spoke to me about the potential NF link and contacted the specialists at Guy's. They looked at the scans, said it would probably be a good idea to meet me and that was that. That's also why they're going to look at the scans I had on Tuesday and the CT I have next week.

I also had to have a blood test to check my genes for a genetic mutation. Basically the Prof confirmed I definitely have it through a visual inspection but the blood test is genetic proof. Neither my Mum nor Dad have it so it's not hereditary, it is a genetic mutation so the test is to see where on the DNA or RNA the mutation(s) is/are.

The veins hardly gave any blood though as they're so shit (thanks chemo!) so they might not be able to test after all!!! If they can test the micro amount they got, then the results could take up to 3 months. The results take so long because my NF1 is so mild, they need to find my genetic mutation which could only be one or two strands of wrong DNA. Whereas someone with it worse than me would have more mutations. Needle in a haystack time!

They will stay in touch with oncology in case of any links and treatment plans.

Interestingly, new studies have come out from Finland in the past 3 years showing a link between BC in young women and NF. There are talks in place at the moment to get anyone diagnosed with NF of any type at a young age to be screened for BC from the age of 30. Although I was 28 at my original  diagnosis so wouldn't have been caught by this anyway if my NF had been discovered earlier.... At least all the different teams are talking to one another!

NF1 itself when it's as mild as I have it doesn't require any treatment (thank god!) In a weird way, it is a good thing to have the diagnosis because nf tumours would show up on any scans and could potentially confuse things! It means they will always thoroughly check before any action in case its unnecessary.

So there you have it. I am officially a mutant. I just need to decide on my superpower....