Making the RARE voice heard
Just one of Ellen's files as of 2015
“Oh no, she’s far too young for that,” was the reply, and instead they looked into my appendix, which turned out to be fine, and so my confused trips to A&E continued for years.
Now, this is no rant against that doctor, because she had my best interests at heart, and it turned out the pain I had was due to something very rare.
See, I have Cystinuria. Others with this genetic disease will be familiar with the problems in diagnosis thanks to the rarity of it, how difficult it is to see cystine stones on certain scans compared to more common calcium stones, and in my case one kidney being far more productive than the other.
It wasn’t until I was in my early twenties, when I experienced the same pain my left said for the first time ever that it clicked; it wasn’t one organ causing the problems but two, and the pain fit perfectly with renal colic pain.
Finally having a doctor give me some kind of accurate diagnosis was amazing, not least because he called me a “stonemaker” in a fantastic Scottish accent. However, it was a couple more years before I was properly diagnosed; only after collecting my pee and lugging it back to the hospital for it to be fully tested was I fully diagnosed as having cystinuria, a disease causing a high concentration of cysteine acid, which crystallises to form rare kidney stones.
Like all diseases, it’s not glamorous and it’s not fun. Whilst I don’t have to deal with the pains and problems of other unseen illnesses, such as my sister who lives with Ehlers-Danlos syndrome, I instead have the joy of that worry that another stone might just happen and ruin all my plans. When the pain hits, all you can do is curl up with some painkillers hoping that it will pass, or rush to A&E. I once missed a Danny Elfman concert at the Royal Albert Hall due to a stone and I was more than a little heartbroken.
I do have some treatments in place, the main one being drinking as much water as possible, ideally over 3.5 litres a day. Even as I write this, I have water within arm’s reach to sip away at, and when I work I try to always have a drink of some sort at my side, being careful that it’s not one of the ones that will ironically dehydrate me. As a lover of tea, I’ve had to substitute a few of my many daily cups with alternatives; in fact, upon hearing another cystinuria sufferer found that mint tea helped them, I and my mother have since kept the cupboards stocked up with the stuff.
In terms of medicine, I’ve been on a few different options: liquid potassium citrate (which tastes awful), sodium bicarbonate (yes the stuff you put in cakes), back to potassium citrate (in less-gross tablet form). I’ve been on Tiopronin (which I would be on right now if there wasn’t a shortage) and I’m currently on a short dose of penicillamine to try and clear out some gravel currently residing inside me.
In terms of day-to-day stuff, Cystinuria UK (http://www.cystinuriauk.co.uk/) has been a godsend for me. Through this site I’ve managed to get some solid advice that I’ve been able to use and chat to my doctor about. Also they help spread the word about Patient Days organised by the Rare Renal Disease Group (RaDaR); I went to one last year and it was amazing to be in a room full of other people who had such similar stories to me. I didn’t feel alone; everyone understood what I was living with.
Because cystinuria is so rare and not immediately visible, sometimes people who don’t live with it forget you have it. Friends buying rounds in the pub ask, “oh, can I not treat you to something stronger?” when I ask for a sparkling water, only to say, “oh, no, of course, kidneys” when I remind them. And it’s not that they don’t care, it’s just so hidden. Hell, even I forget once in a while, having to have alarms for my medicine, and finding myself looking up from work I’ve been engrossed in on my desk, only to see the un-drunk glass of water next to me and quickly have to gulp some down. Fortunately, the Patient Day and groups like Cystinuria UK offer great advice on how to make little changes to make it all a bit easier from people dealing with the same things as me.
Best tip I got from them? Drinking through a straw helps you drink more. It really does.
Regular scans and specialist visits are in place to try to find and deal with large, problem stones via surgery before they block a kidney. However, my kidneys are particularly pro-active when it comes to making stones (I have 10 times the normal amount of cystine in my kidneys without treatment), and when the stones come, so does the pain, and it sucks.
I’ve had so many stones, and I’ve never known pain like it; it feels as if your insides are about to explode (which they sort of are, as your kidney swells up like a particularly gross water balloon). Other side effects I get alongside the pain are severe nausea (especially for particularly bad stones that will take ages to pass or need surgery) and generally feeling sorry for myself.
Fortunately though, I live in the UK. I have the NHS. I can take a prescribed painkiller given to me for stone pain, go straight to my local A&E without thinking, and once I’m there my diagnosis means I can go straight up to the counter and say “it’s a kidney stone and I just threw up all my painkillers because of the nausea”. My ridiculously large amount of records there mean they can look me up, confirm my condition, and push me through to be treated and looked after by the extremely hard working staff of the NHS. I can’t express just how grateful I am for this (particularly intravenous painkillers and anti-sickness drugs, I wouldn’t be able to handle renal colic without them).
All in all, this is a disease that is extremely frustrating, and boring, to live with. The biggest help is drinking lots of water, which is monotonous and means you spend a lot of your life in the bathroom, or in desperate search of one. One upside is that I have endless stone and hospital-stay stories, so I’m always interesting at parties.
But, to vent a little: don’t give me advice on how to reduce calcium stones, yes everyone makes the “you should start a jewellery line” joke, and if I have one more person tell me, “oh you should drink more water” when I say I get kidney stones, I might scream.
Do, however, make all the stone, crystal, and gem puns you want. They rock. And so does the NHS.
Rare Revolution Editor