The Next Best Thing

7th June - I had a very painful night, I was dosed up on IV painkillers and was screaming out in pain a lot of the time. My back is so so painful. God this is so shite. 

Mid-morning I have a chest x-ray to see if the fluid on my lung linings is behaving or not. After my chest x-ray Michelle and Rob come and visit me. I have been missing Fagin and Poppy terribly and the lovely Michelle brought me a cushion as a pressie! She said if I could not go to the borders then she would bring them to me in cushion format! The next best thing - thanks so much Mish - you rock!

My awesome cushion!

That evening, the book club girls come to visit. Because I can't go to book club at whoever's turn it is, they bring book club to my bedside! We chat about the book for a tiny bit and then spend the rest of the time gossipping. Such a nice idea - thanks girls.

That evening I have the most dreadful sleep. In the ward next to mine there is a man with severe Alzheimer's. He calls out his wife's name over and over again. He also shouts "nurse, nurse, nurse" constantly. The nurses go to him and he asks where he is and why he's there. They gently explain but then 5 minutes later the same thing happens again. It's absolutely heartbreaking, but selfishly it's also annoying as i really need to sleep. I feel hideous saying that. He then asks to leave, many many times. He starts offering bribes to the nurses and to people each side of him. People tell him it's not possible and he starts to get really angry. He starts talking about killing people. He talks about his past as a "gangster" and says he is going to get his people to follow everyone in his ward and the next and kill them. He also says he is going to "start killing at random unless he's let out". Now I know this is his Alzheimer's talking and that he is unable to get out of his bed, let alone kill anyone, but it's still a pretty scary thing to be listening to.

8th June - Today I was determined to actually make a real effort with my walking. I manage to walk (with my walker) all the way to the end of the ward. I am bloody proud of myself.

Because of the amount of blood i keep having taken from me, I asked one of the nurses to find out what my blood type is. No reason other than curiosity. I'm 34 years old and have never found this out, so i might as well take the opportunity where I can. Turns out I am B+, the same as my mum .

Back in February, I had an appointment where I found out I had neurofibromatosis type 1. The doc at the time said it was highly likely I had it based on my skin. However they wanted to test me to 100% confirm. Today I got the news that they were somehow able to test the 3 tiny drops of blood they got from my shitty veins and it's been confirmed that the reason I have NF1 is due to a gene mutation. It changes zip, but I suppose it's nice to have the explanation. Dr P will love this for her write up of me for her case study!

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....