Realist.

So, it's been pretty much 2 years since I was last admitted to hospital and I'm acutely aware that I haven't written much in that time, so here goes.

I've been on pretty regular medications since then; Aciclovir, antiviral; Voriconazole, antifungal; many antibiotics, antibacterial; Ferrous Sulphate, iron deficiency; Prednisolone, immune suppressant; Sirolimus, immune suppressant; Romiplostim, to multiply platelets; GCSF, to multiply neutrophils; Hizentra, to up my immunoglobulin G levels.

It's been a long battle, and I'm never going to be to in the clear, really. I think that's something that has really hit me recently. I've been trying to work towards this impossible goal of being drug free. I was drug free for a while, but I've realised now that this is impossible. Being drug free before probably shouldn't have been an option. It meant I slipped off the hospitals' radars for a while and therefore my health slipped into a slow decline. It’s going to take a little while to adjust to, but I know now that I’ll be on some form of medication, on and off, for the rest of my life.

The doctors and nurses are hovering much more now, which I don't like all that much, especially as on occasion they aren't there when I need them. Though I appreciate they are busy. I suppose them breathing down my neck sometimes is probably something I need. A push of sorts.

So, let's go over everything that's happened lately. It's not all that much, to be honest, but naturally it is overly complicated and no one has any answers. The lack of answers thing being completely understandable, as I'm fairly unique medically.

I'm not sure if I've ever talked about being part of medical research before now. Either way, I'm going to talk about it in this post. Feel free to scroll further down if you aren't interested. Although you've probably come to the wrong blog if that's the case.

As you are probably aware as one of my readers, I have a shit immune system. There really is no better word for it. The problem, in a nutshell, is that it doesn't like me, and tries it's hardest to attack itself (me). The immune suppressants are my lifeline here, because they stop my immune system from behaving in such a manner and dampen it down. However, this leaves me open to infection, illness, and a fondness for hiding at home (not really an issue, I just have an excuse not to socialise now). So, I'm really fucked. If my immune system isn't killing me, the world is. If the world isn't killing me, my immune system is.

For the most part, I'm healthy... To an extent. But when I was 19, I wasn't healthy at all. I'm not going to go into detail here, feel free to read my other posts if you haven't already. Anyway, the nature of my illness back then seemed to attract certain consultants, who shall not be named, because I fit a profile they were interested in. I'm not sure, but I believe they had been researching my "type" of immune issues already and I came along and slotted in perfectly.

It turned out that they suspected my underlying issues were what they were looking for and my obvious issues alluded to this. After a lot more research, bloods being taken, they told me that I had CVID. Common variable immune deficiency. And a mutated gene...

The mutated gene was basically the evidence that fit the theory, as at the time I was one of two people in the world to have been discovered with this. In fact, I believe I was the first, shortly followed by someone else in Colorado, as far as I'm aware.

The gene in question is called Bach 2, and my consultants believed it to be related to the immune system. When mine turned out to be mutated and my immune system turned out to be "shit", I think they were pretty excited. Hopefully not about my health being bad, but now their research could progress. My immediate family were also DNA profiled and no one else has the mutation I have, so it was a complete screw up when I was growing, probably on a damp flannel.

So, that's basically how I became the subject of a medical journal article. I have a copy of it somewhere, but I don't know if I'm allowed to share it, as normally it would need to be paid for. So if anyone is interested, I can show you in person.

It's not as exciting as it appears. And it was a few years after I first went in to hospital that it was published as "accurate", I suppose. They had several hurdles to jump through. But even now, 8 years after my initial bought of sickness, they still take about 10 vials of blood from me every time I visit my old stomping ground (Hammersmith hospital), mostly for research.

I have only ever been officially diagnosed with 2 things. CVID and BRIDA, otherwise known as BACH-2 related immunodeficiency and autoimmunity. At least CVID comes up on some obscure travel insurance companies. I think it will be a long time before BRIDA does, as I was the first to be diagnosed with it.

It's a bit weird being the first diagnosed with things. I always knew that CVID was rare, but to be part of the elite few that have what I have, and to be the one that "started it all" so to speak, is a bit unnerving. I almost feel like there is some pressure on me, though I can't explain what I mean by that, even to myself...

If you Google "brida immune", some interesting things come up about other immune disorders and their association to this gene. I don't know how much of my consultants' research contributed to all this, but I'm sure it must have done somehow. I think many doctors back then disagreed with my consultants and believed Bach 2 had nothing to do with the immune system. Then I showed up with mine and the mutated gene, which could explain why my immunity was so bad, and people started to come around to the idea.

But now we come onto treatment. Or lack thereof. One of the options for someone in my position is a stem cell transplant, otherwise known as a bone marrow biopsy. It's a procedure with a ridiculous amount of risks and not to be undertaken lightly...

The procedure would involve taking a bone marrow sample from somebody else, but not before destroying my immune system with chemotherapy and harsher immune suppressants, and then, via IV line, administering the healthy donor's sample into me. This, all in the hopes that it would take over my immune system and therefore give me a healthier outlook. But with the Bach 2 gene, especially, and just because they can't, there is no guarantee that it would work. It could kill me, by lowering my immune system and letting infections in, graft versus host disease could occur, or I could simply end up alive, but in a worse position than I am in now...

After a couple of years of talking about it, discussing it with various doctors and surgeons and bringing my family to meet them, I've decided not to go ahead with it.

And this is something I talked about with them at my most recent appointment.

I was asked if I'd like to be referred to a surgeon at the Royal Free hospital, for another opinion on the stem cell transplant.

I politely declined and said that the risks far outweighed the benefits and that I wasn't prepared to go down that route.



I then admitted I was a cynic, and my consultant asked what I meant by that... I told her that I consider myself a realist, but many others I know call me cynical. I said, basically, I'm a big believer in what happens to you is supposed to happen, and you're supposed to deal with it. I then proceeded to say "this is going to sound really bad, and please don't put me down as suicidal in your notes, but I believe that if you die, you are supposed to die". Surprisingly enough, they seemed to agree with me, even called me level headed and were acting like they had spoken about me before in this context. I told them that I wasn't the sort of person that wanted to live to 85 and not be able to take care of myself, that I didn't want other people wiping my arse. How I'd even considered popping over to Switzerland just before I got to a point that I couldn't look after myself any more.

We spent a good fifteen minutes chatting and laughing and, to be honest, I got a good vibe that they understood where I was coming from. I’ve known my consultants for almost eight years now, and for the most part they respect my decisions, but I came away from this appointment with confirmation of this. I truly felt that I was in a position where my choices were my own and I wasn’t being put into a position that I didn’t want to be.



And just stepping back into the whole “realist” thing, because I feel I need to address this. Having been through the things that I have, I know there are a lot of people out there who would want to do anything they could to prolong their life; eat healthier, do the stem cell transplant, exercise way more than I have ever done. But for me, my outlook took the opposite road. I decided that I was only going to do what I wanted to do. That I will only eat what I want, and socialise with the people I want to, and not be ashamed of that. And if I die in the next ten years, or at any point, then I will do so knowing that I lived my life the way I wanted to. I know this sounds very cynical, and to an extent it probably is, but it’s my life and I can think what I want.



Hope you enjoyed reading this. I know the tone was a little different than my previous posts, but I felt like this was the right time to do this and I hope anyone reading this can respect that and possibly come back and read if I ever post again.



Thank you,

Rachel.