Until 2011 I’d never heard of Mast Cell Disease, Mastocytosis or Mast Cell Activation Disorder (MCAD), let alone have any inkling that I am suffering from the disease myself. It was only when I was diagnosed with Ehlers-Danlos Syndrome (EDS) in 2010 and started accessing EDS forums online that I came across the symptoms of MCAD and had several light bulb moments.
I’ve had Dermographism (also known as skin writing) for as long as I can remember.
Until fairly recently I had no idea other people’s skin didn’t react like mine and come out in itchy wheals when they scratched themselves, pressed their skin or wore tight clothing. In order to support my joints due to my HEDS I have to wear various braces, particularly if my joints are in active flair-up. The photo here shows what happened when I used a fairly basic neoprene elbow support (available from any chemist). You can see the red itchy wheals from the pressure of the support on my skin, plus a hive has formed in the shape of the company logo which was printed on the neoprene. Needless to say, despite trying various kinds, I still haven’t found an elbow support that doesn’t cause my dermographism to go bonkers.
As a young child my lips were constantly red and chapped in winter, sometimes in a huge line right down to my chin. During puberty I developed duck lips where, in cold and wet weather, my lips would swell up and look like I had a trout pout. My GP thought I was completely nuts (no change there then) and had no idea what was going on. Me neither, and it disappeared 2 years later as my hormones settled down. I now know I was having oedema urticaria, ie. an allergic reaction to something in the weather (you can be allergic to water, heat or cold which even I find bizarre!) and histamine was causing my lips to swell. It was another early indication that I had mast cells which needed to be reined in.
over-concentration rather than physical over-exertion) or drank alcohol. The flushing starts as a blotchy red patch on my chest, spreads up my neck, and over my cheeks, leaving a white ring around my eyes which looks like I’ve been in a tanning booth wearing goggles. Sexy! When I’ve had a bath I also have the blotchy rash on my stomach, as well as my chest, neck and face, but no-where else. It’s just part of who I am, though it embarrassed the hell out of me as a teenager when I would go out with friends looking like a lobster. Even now I do still get upset by the stares and remarks about my flaming red cheeks – like I can do anything about it! Funnily enough, I don’t get the blotchy rash when out in the sun which is odd considering the sun makes you hot.
Another pointer towards mast cells behaving badly is my reaction to insect bites. While walking my dog in woodland last year I was bitten by what turned out to be a mosquito (luckily they are harmless here in the UK and don’t carry disease). The photo on the left is
how the bite looked for a good 3 weeks and it took a further 6 months for the bite site to stop itching. And this year I was bitten by some unseen, but evil, little critter and ended up in A&E with my leg so swollen it was painful to walk on, and inflammation which tracked up a nerve to my thigh. I’m fairly sure reacting in such an exaggerated way to tiddly little insects isn’t normal – imagine what would happen if I were ever stung by a wasp, or bitten by something really potent like a snake!
All of these issues have been my normality since I was a baby and have never raised any red flags. It was only after developing M.E. in my mid twenties, and consequently began having strange reactions to medications, that I started to wonder if something might be going seriously awry in my body.
I had my first drug reaction when I was 16 following surgery for Congenital Spinal Stenosis (part of Ehlers-Danlos Syndrome, though of course we didn’t know that at the time). For 3 days after the surgery I had awful muscle spasms particularly over the site of my wound which was incredibly painful, and I had to be injected with a muscle relaxant. The nursing staff were quite nasty with me, saying I was “getting worked up” and needed to simply relax. I later found out that muscle spasms are a known reaction to some types of general anaesthesia and are of course a common symptom of mast cell activation.
When I was 17 I picked up a severe tummy bug, and was given an injection of the anti-emetic Stemetil, the active ingredient of which is prochlorperazine. Dystonic allergic reactions, whereby the muscles jerk and move uncontrollably, are a well known side-effect of phenothiazines and I had my first truly allergic reaction in the form of an Oculogyric Crisis.
Apart from phenothiazines I could tolerate any number of medications, and regularly took travel sickness tablets, common pain killers and the contraceptive pill. In 1995, however, I had a bizarre reaction to alcohol and this eventually lead on to me having an anaphylaxis-like reaction to just about every drug I put in my mouth (more on this in my Drug Reactions blog post), many of which like Paracetomol (known as Tylenol in the States) I’ve taken my whole life without incident. Suffering from a chronic pain disorder and not being able to take pain killers of any description has been particularly trying and there are days I’d give my left arm for some Co-dydramol!
I’ve discussed these drug reactions with various doctors and consultants over the years (although none have ever actually witnessed one because I’m always at home when I try a new prescription not in hospital under medical supervision), and the consensus has been that it is impossible to react in the same way to all these varying classes of drugs. Ergo, it is behavioural, my own fault entirely due to mental weakness and I’m simply having a panic attack – not quite sure how you can diagnose this without even witnessing a reaction, doing a mental health assessment or any relevant blood tests, but there you go. There have been times I’ve cried tears over this, and other times I’ve wanted to batter the doctor with a hammer in anger and frustration. I knew they were wrong, but didn’t know how to prove it.
In 2004 I started to cough. This was no ordinary cough, but a chronic, dry, unproductive, irritated cough which went on, and on, and on and……..well, on. My record is 5 months and I coughed so much I honestly thought I would die from oxygen deprivation. Chest X-rays were normal. No signs of viral infection. My peak-flow was superb, I wasn’t wheezy or gasping for breath, so asthma was ruled out. No-one had a clue what the cough was all about and I just continued to suffer with chest tightness, air hunger, coughing and the feeling that an elephant had taken up residence on my breastbone. This is one of the few symptoms that has really gotten me down and, to be honest, at times scared the absolute crap out of me.
In 2007 I developed hives on my behind. It would start with an itch and a tiny raised, red blister. These would spread over the course of a few days, until they were larger, had raised red edges and white-ish centres, and sometimes spread into each other to form larger, itchier, spots. They’ve been coming and going for absolutely no reason ever since, but are always thankfully confined to my butt for no reason I can fathom. They last for weeks, sometimes months, and the only thing which gets rid of them is steroid cream.
In March 2011 I went through a particularly terrifying phase of my illness. I started having a mild version of my drug reactions after eating. About 20-30 minutes after food I would feel faint, have tachycardia, my blood pressure would plummet, I’d feel quite anxious, extremely nauseous, have muscle weakness which meant I had to lie down, and an awful pain in my head like my brain was being squeezed in a vice. These symptoms resolved after about an hour, but were extremely scary and I had no idea what was causing them or what to do. By the time each set of symptoms had subsided, and I was virtually back to normal, it was time for my next meal and the whole thing would start all over again. My biggest fear was that the reaction would get so bad that I’d literally be unable to eat and, unlike drugs which you can stop taking, food is a fairly vital component to life!
My GP referred me to my local hospital Gastroenterologist, who arranged for an endoscopy and a belly MRI scan (he actually wanted a CT Scan using contrast dye but, knowing my drug reactions and after discussing it with the scanner operator, it was deemed too risky). The MRI scan came back perfectly fine, which surprised the hell out of me as I’d had lower right abdominal pain for years and I was convinced at least something would show up on the scan to explain it. The endoscopy showed I had several stomach polyps, which were biopsied and found to be benign and therefore not the cause of my eating problems. I was also tested for ulcers, H.Pylori and Coeliac Disease, all of which came back negative. The conclusion was chronic gastritis, probably due to poor gut motility as part of my HEDS, and I was prescribed H2 blockers which initially helped until my mast cells decided to reject them and I became allergic. I was also diagnosed with GERD (Gastro-oesophageal Reflux Disorder, or heartburn to you and me), despite having no symptoms of heartburn to my knowledge. To treat this I did risk taking some liquid Gaviscon Advance which again I initially tolerated well but after about a year of use became allergic to. Treating the GERD initially had 2 major benefits: firstly the “muscle pain” between my shoulder blades, that I’d had for donkeys years, virtually disappeared. I now think the acid was burning the back of my oesophagus (and therefore causing back pain), rather than the front (causing pain between the breastbone) which is more usual. The second very welcome benefit was that my cough disappeared. The conclusion can only be that I was inhaling acid from my stomach into my lungs, which caused chronic inflammation in my airways, at times bordering on walking pneumonia. The only medication I can now tolerate for my reflux are Rennies, of which I take 6 each day. However they’re not strong enought to treat my severe and chronic GERD, my cough has returned and I continue to have both upper back, stomach and oesophageal pain.
Thankfully, it was around this time that I joined some EDS forums online and saw several posts about Mast Cell Activation Disorder, which appears to be more common amongst the EDS population due to the fact that mast cells live in connective tissue, the connective tissue in EDS is faulty and this seems to make the mast cells also faulty. Mast cell activation explained the GERD, drug reactions, hives, dermographism, flushing, reactions to insect bites and my puberty-related trout pout and the relief at finally discovering the cause of my many and varied issues was huge. I asked my GP for a referral to an Immunologist, but my appointment in June was disappointing and didn’t go anywhere near to explaining my symptoms (it’s very common to come across uninformed consultants who give a diagnosis for each individual symptom but don’t join up the dots and arrive at a mast cell conclusion). So I paid privately to see a mast cell disease specialist in London (see the blog post on my initial appointment here) and in December 2013 was diagnosed with both Histamine Intolerance (which explained my allergic-like reactions after eating) and “probable” Mast Cell Activation Disorder (unfortunately the tests required to confirm MCAD aren’t available here in the UK like they are over the pond in the States).
However, I could only afford to see the private Consultant for an initial diagnosis and for the past 3 years I’ve been left to manage the condition myself. My GP is nice but knows nothing about MCAD and there are no specialists here in the North of England. The great thing about having a confirmed diagnosis though is that local Doctors do now take my reactions seriously which, after 15 years of being treated like I was mental or exaggerating, is a massive relief and worth the nearly £1000 the diagnosis cost me!