I am 36, married with 2 little girls aged 10 and 3. For the last 6 years I have been treated for an increasing number of ‘allergies’. It was only when I suffered an anaphylactic attack that I was referred to an allergy specialist. After numerous tests they concluded that I had what they believed to be a mast cell disorder and I was referred to another hospital. I had all my blood work done, then allergy testing the next day (to eliminate any doubt), I should then have had my bone marrow biopsy, but, because I react so severely to any medication we decided to wait for the tryptase results first. I will then go back for my skin biopsy and then we should start to get a better picture. I have carried an epi-pen for the last two years, but we understand that the doctors are concerned with the speed in which this is developing. I take a high dose of anti-histamines daily to try and control the severity of the attacks. This last attack kicked off 7 weeks ago; since then I have lost over a stone in weight and just feel awful…

I just turned 40 this year. I have had the spots for as long as I can remember, which isn’t very long sometimes, but have only had the other symptoms for a few months. Last year I went to my GP as I had an upset stomach nearly every day for a few months. She then gave me a cursory examination that brought up my fact that my spleen was a lot larger than it should have been. She did remark upon my spots but did not seem to dwell on it or pick up on their significance at all. I then went through various scans and a load of blood tests that just showed that my kidneys, liver etc were working OK. I was then referred to a gastroenterologist, who did more blood tests and an examination and discussed other problems that I had that I thought were unrelated. He then told me that he would arrange for more scans. I then received a letter telling me that I had systemic mastocytosis and after a full skeletal x-ray, which I had last week, he would have me in to discuss treatment. All that I know of the disorder is what I can find on the net so at this time I am quite overwhelmed with it all. My symptoms are – stomach disorders including cramps, diarrhoea etc., dizzy spells with brain fog, bone ache, flushes, itchiness when hot or especially when going from hot to cold.

I first noticed my UP in about ‘99 – after numerous visits to the GPs I decided I would like them to refer me. I eventually saw a Dermatologist in March 2004, she biopsied me and couldn’t be certain what I had so I was then seen at the local hospital. After some discussion amongst the various consultants and professors they diagnosed UP. My dermatologist then said that I was her first patient like this and that I should have a blood test and base line DEXA scan. After 6 months of waiting for the said blood test and scan I reminded her I was still waiting and she had forgotten! Anyway, the blood test in November 2004 showed raised tryptase. The bone scan in January 2005 showed severe osteopenia. I was then referred to a consultant in metabolic bone disorders at another hospital re the osteopenia and he put me on bisphosphonates. He then asked if he could refer me to a Professor so I went to see one of his research students who did a bone marrow biopsy there and then! The results showed abnormal bone marrow. I am a candidate for the AMN107 [nilotinib] trial.