A Mini Update, and The Eve Before My Second Genetics Appointment

So as always, a lot seems to happen in a tiny amount of time.

On the medical front, I am happy to report a productive appointment with the very lovely GP yesterday. I feel extremely lucky to have gone from one extreme to the total opposite by chance, and for the first time in my life I actually walk out of an appointment feeling positive.

Having made contact with the endocrine team, they have suggested a referral to them, and a scan of my thyroid as I am now clinically diagnosable as having hyperthyroid (or however you’re meant to phrase that mouthful). So being on the case, this GP was more then happy to sort those referrals out – no hint of annoyance or complacency to be found! Although having thyroid issues are nothing to celebrate, I feel so much relief that they are finally being looked into. Its been over a year of battling – up till now they have been brushed off, and only by TSH and T4 were ever checked (TSH always came back as low, but T4 was normal). Thankfully this GP tagged on a test for my T3 levels, and low and behold they came back as high – hence the hyperthyroid diagnosis. I have been feeling pretty rough since my very long encounter with high dose steroids, and it was around the end of those that my thyroid was checked and found to be not behaving. I am dearly hoping that this is a step in the right direction, and that I can get properly diagnosed, treated and begin to feel much more myself again.

I also spoke to her about my issues with the gastro team discharging me. Apart from spending a lot of time laughing about it (I genuinely believe you could make a comedy script based on my encounters with the NHS), she was pretty unimpressed. She is making contact with my POTS team to ask if they want me referred to any other specific teams (preferably those that are EDS aware), and if not will either try some strategies herself, and/or refer me to a local gastro team. Had this have been the old GP, she would have given me a blank look, scribbled on a peace of paper, told me she couldn’t do anything and written it off as another problem not worth trying to solve. Thank goodness this has happened now and not a few months ago.

We also discussed the rheumatology appointment – I had received a letter questioning why my doctor had asked for them to see me. She assured me it was all written into the first letter, but obviously they hadn’t bothered to read it properly. So she is writing a second time making it clear it is so that I can get a referral to Stanmore – fingers crossed its second time lucky!

In other news, its my second appointment with the genetics team tomorrow, and I am feeling a little bit on edge. I had the first appointment a week and a half ago, and decided I needed time to take in the information before going ahead with the test. It turns out they use the numbers of an 80% lifetime risk of breast cancer, and a 30% risk of ovarian cancer for the BRCA 2 mutation – pretty high numbers for a single gene eh? It will take 4 weeks to get the results once you do the test, and obviously they encourage you to think about both outcomes, and what you would do with a positive result. I am fairly certain that although I don’t want to deal with having the operations and the emotions that they would entail, it would be the most sensible path for me to choose. I don’t want to end up with cancer on top of everything else, and as much as I love my boobs, I am pretty sure I will love them less if I know they stand an 80% chance of giving me something potentially life threatening  (and at least unpleasant). Still, its a rather crazily big decision to make – the choice to know if I carry the gene or not. I didn’t think I would ever need to consider the question, let alone formulate an answer.

So, at 11 o’clock tomorrow morning I will be heading to my appointment, and I think biting the bullet and going through with the test. I would be lying if I said I wasn’t scared.

If you are near Birmingham and fancy a drink and an evening of sarcastic entertainment, then drop me a line – I will need all the distraction I can get!

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