This week’s blog comes from Gawain Paling, a founding member of Mast Cell Action, a charity set up to advance the cause of sufferers of Mast Cell Activation Disorders. In this post he shares his story to diagnosis.
In the medical literature it is estimated that between 15 and 30 % of patients presenting at the GP surgery or casualty have Medically Unexplained Physical symptoms.
In 2001 I started to develop IBS type symptoms with blood in my stool. I have had lots of investigations, no source ever identified. Until April 2012 I was happy, fit, had a wonderful family and was enjoying my job.
One weekend, while windsurfing I had an extreme wrenching pain in my lower abdomen and nausea. I fell off my board then slowly made my way to shore. Two hours later I was perfectly fine. That evening I had lots of blood in my diarrhoea, next day I had a couple of episodes of dizziness and acute breathlessness and wheezing, I could barely walk up the stairs.
A couple of months later I started to get intermittent sensations, heat or tightness, in my abdomen. The company doctor said they were inexplicable symptoms and suggested CBT. I saw an endocrinologist who said it did not sound like an endocrine problem.
I saw a thoracic consultant privately, lots more tests, all apparently normal and he suggested anxiety. I sought a second opinion and this doctor (Professor) was very interested in my test results, he said it was as if my lungs were not expanding to their full volume. He suggested I get out of the private sector and into a NHS teaching hospital for a proper investigation.
I went to my GP and asked if it was possible for a referral to a NHS Neuroendocrinologist.
My symptoms were rapidly getting worse, what had been tolerable episodic sensations were now wrenching abdominal pain, extreme nausea, vomiting and retching. I had to stop work.
I went to see a neurologist privately, he listened and was really excellent. He admitted me for observation for 24 hours. In my notes he noted my recurrent stereotypy disorder and my labile blood pressure, but he could not find a neurological basis for my symptoms.
My appointment with the NHS neuroendocrinology professor arrived; he was amazing and said he would work his way through a structured appraisal until he figured out what was going on. I had a range of endocrine tests and a PET scan (that showed up an area of focus in my left sacrum) but they could not see any lesion, just a bone anomaly.
At this point I was experiencing a daily cycle of horrendous episodes, it felt like something was being released inside me. A whoosh and I would burn along my lower back, wrenching pain inside me. I would be unable to function for about three hours, wherever I was I would find somewhere quite to just lie there. I could not participate in family life, I did not want to leave the house.
The professor sought a second neurology opinion. The neurologist did not have my referral letter but had read my symptoms summary. He said there was no medical explanation for my symptoms, asked me if I thought I was dying, my relationship with my father etc. and diagnosed me with a somatisation disorder. I was terrified by the implications of this…
Luckily the professor did not agree and was confident he had discounted a neurological or endocrine problem and was clearly suspecting mastocytosis, a disease involving the proliferation and activation of mast cells. He referred me to the Haematology department. They measured my tryptase (a chemical that is released from mast cells) and looked at my bone marrow cells, both normal. They did not think it was likely to be a mast cell problem.
After reading the many papers on the subject, many of which describe the inaccuracy of the mastocytosis tests for MCAS, the Professor diagnosed me with a Mast Cell Activation Syndrome (MCAS) and prescribed me with a range of mast cell stabilisers that have greatly taken the edge off of my disabling episodes. He endeavoured to find someone to help with treatment but could find no useful clinical input from a UK physician.
I am still unable to work and cannot drive or participate in family life like I used to. I have milder but more frequent episodes. In many European countries and the USA there are clinics and research into MCAS. The range of symptoms is wide but with a detailed history there are many common symptoms that repeat themselves in the patient community. There are a significant body of doctors that thinks MCAS is significantly underdiagnosed, it is just hiding in plain sight.
A recent paper published in Nature Genetics October 17 appears to have found a genetic link between mast cells and unusual multi system symptoms. Please read it.