Can you get a disease before it actually exists?
Turns out you can!
I first became ill in 2005 and ended up completely in the dark in 2006. For the next eight years I tried all sorts of things in the hope of finding a cure. Sometimes I managed to get well enough to go out for walks at dusk and dawn, but sooner or later I always had another relapse. The histamine intolerance approach I’ve described elsewhere on this blog proved the turning point for me and in 2016 I had improved enough to go back to the dermatology clinic in London which I’d last attended in 2006. There I had tests for a group of conditions known as mast cell disorders, but the tests came back negative, and I didn’t pursue this further.
Although I was much better than I had been, some areas of my skin were still excruciatingly sensitive to light. Also, my skin had become very sensitive in other ways, reacting to friction from many kinds of clothing, and to various forms of repetitive movement and exertion. So I was vulnerable to relapses from accidental exposures, or slight miscalculations regarding the amount of movement I could do.
In summer 2018, following energetic gardening under blazing sun (yes, I know – hindsight is a wonderful thing!), I had a very bad relapse, and was back in the dark for large parts of each day. Previously, I’d been contacted by a lady in California who had listened to my book while she was also living in the dark. After tracking down my website she’d started following the histamine intolerance approach, and had got well enough to find a specialist who had diagnosed and then treated her – for a condition called Mast Cell Activation Syndrome. (Read her story at ‘Another Girl Out Of the Dark’.) I became extremely motivated to research mast cell disorders properly. Here’s what I found out:
Mast cells are a vital part of everybody’s immune system. When they detect an injury or an intruder such as bacteria, they release various specialist types of chemical known as mediators to deal with the problem. One of the most important of these mediators is histamine. Some mast cell disorders such as mastocytosis involve an abnormal proliferation of mast cells in the body. However Mast Cell Activation Syndrome (MCAS), a new disease identified in 2007, does not involve the presence of an excessive number of mast cells. Rather, sufferers have a normal number of mast cells, but the cells themselves react inappropriately and excessively, in a way that goes well beyond allergy, releasing their chemical mediators in response to normal everyday triggers. These unnecessary and powerful chemicals wreak havoc in the body, causing pain, swelling, burning, rashes and many other problems. This condition can affect all systems of the body, so sufferers exhibit a very wide and diverse range of symptoms. The range of triggers are many and highly individual – and can vary in one person across time. Triggers include – but are not limited to – foods, chemicals, smells, heat, cold, exercise… and light.
I also came across the astonishing sentence: “MCAS usually presents with normal tryptase levels; instead, histamine, mast cell-specific prostaglandins and other mediators all need to be assessed.” In fact, while a negative tryptase test rules out mastocytosis, it does not rule out MCAS, which is much harder to diagnose There are a range of other tests, but at the time they were not available on the NHS.
I became determined to see a mast cell specialist, and these are rare beasts in the UK. When I finally ended up sitting opposite a (sadly, private) clinical immunologist who was an expert in this area, and started hesitantly to describe my impossible, incredible history (I mean who lives in the dark for years and then gets a reaction from grating cheese?), his attitude was blissfully refreshing. Basically, he said, “Look, stop worrying about how weird your symptoms are. I’ve seen MCAS causing all sorts of seriously weird symptoms. Let’s see what comes up in the tests.” So off I went to get tested.
MCAS was added to the International Classification for Diseases in 2017. The ICD specifies four diagnostic criteria:.
1 – a detailed history of symptoms
2 – the exclusion of possible alternatives
3 – evidence of a chemical mediator
4 – response to treatment.
So the first set of tests, which my GP ordered, were to rule out every other possible cause. I’d had many of these during my years of searching for a cure, but I had them all over again. Nothing showed up apart from vitamin D deficiency (surprise). Then, I had to go privately to The Doctors Laboratory in London, to have other tests looking for evidence of a chemical mediator. This evidence is sought from many different angles, because the chemical mediators which mast cells release spike very quickly and then disappear, while their painful and disabling effects on the body last much longer.
The first batch of tests were negative for MCAS, but positive for histamine intolerance. I have a measurably low level of Diamine Oxidase (DAO), which is an enzyme that degrades histamine. And this low level was measurable even on my low histamine diet – the advice is to come off a low histamine diet and eat normally for two weeks prior to the test, but I explained to my consultant that if I did that, I would most likely be unable to attend the lab at all due to a resurgence of my light sensitivity. So my levels must have been low! At last, the reason for my amazing improvement on a low-histamine diet and histamine-reducing supplements was clear.
Then I had the next batch of tests – and there it was. A prostaglandin F2 alpha to creatinine ratio which was above the normal range.
I later found out that because of the evanescent nature of the chemical mediators in the bloodstream, even with the full range of tests it can be hard to catch them in the act. Some people receive a diagnosis of ‘suspected’ or ‘presumed ‘ MCAS based on the other three criteria being met, because their chemical mediators keep slipping through the testing net.
Since receiving my MCAS diagnosis, on the advice of my consultant, I’ve continued with my low histamine diet and supplements, which are also recommended for people with MCAS. I’ve started taking DAOsin, which directly supplements DAO, and gradually added in Clarityn, an antihistamine which reduces the receptivity of my other cells to the chemical mediators which my mast cells are producing in such exciting quantities. I still have ups and downs, but things are definitely improving.
It’s only the start of a journey. There are other medications to explore and experiment with to help manage the condition, but there is currently no cure. People’s symptoms tend to wax and wane, and alter over time; new symptoms and triggers can develop. Compared to the UK, diagnosis and treatment are much better established in Germany and the USA. However knowledge and understanding of MCAS are now developing in some pockets of the NHS. A charity, Mast Cell Action (www.mastcellaction.org), was set up in 2015 to promote awareness and support sufferers, many of whom have spent decades going from specialist to specialist trying to find out what is wrong.
When I wrote my book, it was an unusual illness memoir because it did not have the standard happy ending. At the point of publication in 2015 I was still suffering extreme, incredible and unexplained symptoms, was mostly housebound and frequently in my blacked-out room. Because there was no way I could do the usual kind of book publicity, I stayed in my house and journalists came to interview me in the living room, with the curtains more or less open depending on how well I was at the time. Inevitably, they all asked the same question: “So, have you considered the possibility that your symptoms have a psychological cause?”
I would sigh inwardly and say something along these lines: “Obviously I have considered every possible route out of the dark. However I’ve got four reasons why I think my symptoms have a physical cause. First, my dermatologist, who’s continued to support me over all these years, has never suggested that my symptoms are psychological. In fact he’s been very explicit that there are many dermatological conditions which are currently not well understood. Second, I’ve tried many different approaches over the years, including mind-body techniques. The mind-body techniques have never helped, whereas certain supplements and dietary approaches definitely have, including beta-carotene, which is prescribed on the NHS for various light sensitivity conditions. Third, here is a scientific paper which describes a case very similar to mine in Sweden (and I could now add: since publishing the book I’ve been contacted by people in similar situations all over the world – see my post Sadly Not Unique). Fourth, medical knowledge is still progressing. Symptoms which are not fully understood in the current state of knowledge may nonetheless be genuine physical symptoms. To say either your symptoms can be explained in the current state of knowledge or they must be psychological is a false dichotomy which misunderstands how medical advances happen.”
Well, it turns out I was absolutely right!
It hasn’t been comfortable, being on the cutting edge. But now, in 2020, finally the world’s caught up with me. I’m so grateful to the doctors and researchers who worked to identify and understand MCAS during all those years that I was in the dark. I’ve got an official diagnosis at last, underpinned by measurable biochemical abnormalities. I’ve got a clear direction for the future, and the hope that I can continue to improve.