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Hello,

My name is Michel. But Ann, my partner, calls me Michael.

Actually, neither of these names are my real name. Long story, don't ask …

Moving on … Please bear with me while I recount a chunk of our lives spanning about 5 years.

Ann hasn't been feeling well since 2008.

When we lived in London, visits to the GP, to address individual symptoms of what we now know were all an expressions of one single disease, usually resulted in summary dismissal with no diagnosis. Or worse still, some visits ended with an intimation that ‘it was all in her head'.

A visit for Ann's leg skin lesions resulted in a diagnosis of urticaria. Ann was told to ‘take it on the chin', as it could not be cured. She was given some dietary guidance in order to reduce further eruptions and was sent back home without further investigation nor treatment.

When we moved from London to Warwickshire in 2010, where the pace of life is a tad less frantic, GPs were taking more notice of what Ann was saying. After a laborious set of tests over the span of a year, it was concluded that Ann was suffering from Fibromyalgia.

Ann was getting concerned that her skin lesions would spread higher up from her legs. During a routine visit to discuss unrelated symptoms, as a second thought, Ann inquired about her urticaria. Her GP could not identify the lesions and decided to refer Ann to a dermatologist. The dermatologist was stumped with the lesions. With dogged determination to get to the bottom of it, he took several skin biopsies and ran a long list of tests. Over the course of months and after engaging a team of his colleagues, the dermatologist concluded we were dealing with a mast-cell disease.

It all went comparatively quickly from there. After a bone marrow biopsy, tryptase levels tests, abdominal ultrasound scan, bone marrow density scan, it all became clear.

Ann was diagnosed with Systemic Mastocytosis in September 2012.

The doctors told us that the disease is very rare and as a consequence, there is little research done in that domain. Therefore, the condition is incurable. The symptoms should be “manageable”, but quality of life would deteriorate.

After the initial shock, we were expecting our typically excellent doctors to take the lead. Ann had regular 3-monthly check-ups with a wonderful hematologist and was visiting our very supportive primary care GP. However, no drugs were prescribed at that stage, other than Alendronate (alendronic acid) to stem the effect of osteoporosis, and a self-injectable epinephine dose in case of anaphylactic shock.

Since Osteoporosis was the only condition that was truly medicated, we looked at what Alendronate entailed and were not very pleased with what we found. Therefore, we researched the topic of Osteoporosis and gauged that Ann's bone fracture risk was tolerable, when contrasted against the side effects of Alendronate. So Ann decided to decline taking alendronic acid.

As the weeks passed by, Ann's Mastocytosis symptoms were getting more intense and her quality of life deteriorated. Visits to the GP became more frequent. Her GP attempted to help her manage the pain with antidepressants, opiates and proton-pump inhibitors, which all failed to successfully alleviate her symptoms. However, every GP visit was punctuated by a discussion on Ann's misguided refusal to take Alendronate.

One day, Ann came back from the GP in a very distraught state. One of the GPs in the practice told her, in no uncertain terms, that he was convinced she would break a hip or her spine and she would suffer the direst of consequences, all because of her stubborn refusal for osteoporosis treatment.

Ann's emotional state after that event deteriorated, and she slumped into an heightened state of depression. While recognising that the GP was well intentioned but lacked in his delivery, I felt compelled to write a letter to her GP on her behalf. The intention of the letter was to explain, in great detail, what had led Ann to decline Alendronate and beg to be spared the repeated challenge to her treatment refusal.

To substantiate the case, it was indispensable to have solid medical evidence, not mere vanity blog posts on the internet. It took us three full weeks of detailed, laborious research into medical journals to come up with something we thought reflected a strong position. Or at least, something that could cast a reasonable doubt on the validity of the Alendronate treatment in Ann's particular case.

We sent the letter to Ann's GP.

At her next visit, Ann was told that the letter was “interesting and informative”.

I doubt you are still reading this, but if you are, congratulations on your patience and tenacity. As a reward, you're finally about to read why this site exists today and what it is about.

To this day, we DON'T know whether the GP's “interesting and informative” response reflected a value judgement on the letter's content or merely a polite “no comment”. Whichever way, the letter achieved its intended objective. Ann has never again been challenged about avoiding Alendronate.

But one thing we DO know, though. The 3 weeks of intense, detailed research were certainly interesting and informative for us. We got to learn a lot about Mastocytosis and Mast Cell Activation Disease/Syndrome (MCAD/MCAS). We joined numerous, heavily active web forums. And one thing is for sure.

This ain't a rare disease.

In the words of one researcher, we may actually be dealing with an epidemic.

The challenge for our good doctors is the ‘heterogeneous presentation' of the disease. That is, the many, many … many symptoms this disease has, each of which can be misconstrued to be some other condition altogether. And each symptom is being reviewed by a different physician : the hematologist sees the anemia, the gastroenterologist sees the irritable bowel syndrome, the rheumatologist sees the Fibromyalgia, the cardiologist sees the palpitations, the neurologist sees the migraine headaches and neuropathy, the dermatologist sees the urticaria. You will not find another disease besides systemic mast cell disease that better illustrates the old “four blind men and an elephant” problem. There are lots of factors that go into every specialist looking at a patient with mast cell disease from a different perspective, seeing only the problems that they have been taught to see in their own domain.

There are proportionately very few doctors worldwide specialising in mast cell diseases. So the patients are left to their own devices to put the pieces together. Quoting a top world specialist on the disease:

These patients go through doctors by the trainload. They accumulate large problem lists, and after they figure out, after about 2-3 years of symptoms, that their symptoms aren’t going to kill them, and they’ve learned that no doctor is going to be able to figure out a diagnosis, they stop reporting their symptoms. They may well continue to regularly suffer a wide range of symptoms, but they simply stop volunteering such information to the clinicians they see because such abnormality has become their new normality. Besides, they learned years earlier to stop telling their doctors about it because there was no point to telling their doctors about it. They’d already been through a complete workup and had gotten nowhere and their doctors were getting to the point of just thinking they were crazy.

In the typical presentation, a mast cell disease could be recognized at any age but often goes unrecognized for more than a decade if not discovered in childhood.

It is immoral to leave patients in diagnostic limbo for a decade. It is immoral to have to accept a ‘new normal' which is anything but. The internet has been a catalyst for people with orphan diseases to come together and compare notes.The challenge for these patients is to get the basic medical understanding of their condition.

I am still very much in the infancy of my own education in this subject, and there are many, many things that still elude me. The domain is so vast, the terminology so confusing, the science behind the medical research so intimidating that it is overwhelming. I needed a structured way to record the things I'd already learned, mainly as an aide-memoire, as my memory is much like a sieve these days. As my profession used to be IT-related, I decided to build a repository site for my own research. Then it dawned on me that everyone in Ann's condition would need to go through the same learning curve.

So, whether you are in Ann's situation grappling with this debilitating disease, or whether you are doing the research to help a loved one cope with the condition, please feel free to browse this site.

This is what this site is about.

Ann and I hope it helps.