Some news...

It's been a heck of a week in our household. Ever since Luca's birth I've been feeling sick and just not right. On Thursday I got the results of a skin biopsy that knocked me back a bit. I was diagnosed with Urticaria Pigmentosa - Systemic Mastocytosis. A rare disease where the body makes too many mast cells which fire off histamine and other agents. I've been having "attacks" which I thought were migraine attacks for the past ten years and they have been getting progressively worse.

Recently, I've been having symptoms every day and on Monday night I had the mother of all attacks. I was going through the normal routine of a bad attack (flushing, vomiting, diarrhea, muscle aches and shooting pain in my back) when I started to feel really awful. I called to Jason that he needed to call 911. He came into the bathroom, I stood up and passed out. Fortunately, he caught me and as soon as I came to he called 911. The ambulance arrived within minutes. My blood pressure was 50/10, my pulse was faint, I was dazed and not really aware of what was going on but I was conscious and breathing. It didn't take them long to get me stabilized and for the first time I was able to get proper treatment since we had a diagnosis. Once Ja told them what it was they were able to start treatment right away for anaphylaxis. In the past I've ended up in the ER and the doctors weren't sure how to treat me since they didn't know the cause.

Today I'm feeling normal and ready to take on the task of fighting this thing. Because it is so rare the nearest doctor that specializes in Mast Cell Diseases is in Cincinnati. However, I'm going to try going to Vin's allergy/immunologist first. They called him while I was in the ER and he said he has never seen a case of Mastocytosis but was familiar with what it was and was kinda excited about trying to help.

There are several variations of this disease. I believe I have the "nicer" version called indolent mastocytosis that means it won't shorten my life span but will change my life significantly. I believe this because in my mind it makes sense to assume the best until we have test results.

There is no cure. If I have the nice version I can expect to have good days and bad days but I think I can improve on how I have been feeling and that would be good. For now, I'm content and I'm ready for the challenge. Though I'm sure my feelings will bounce back and forth.

Here is some info on Mastocytosis:

What is systemic mastocytosis?
Question:
Could you please explain what systemic mastocytosis is? Is it a type of blood cancer? Is there any prescribed treatment? Is it terminal? I cannot find any reference to this on the web. Thank you.

Answer: Systemic mastocytosis is an uncommon condition involving a certain type of body cell known as a mast cell. Mast cells are found in the connective tissue that surrounds and supports the more ordered tissues and organs of the body. Cartilage, bone and blood are specialised examples of connective tissue.Mast cells mediate the skin's response to mild mechanical injury, producing immediate reddening of the skin due to the release of a chemical called histamine from granules within the cell. An over production of mast cells can occur at any age and is seen slightly more often in males. The exact prevalence of systemic mastocytosis is not known and there has been no link made to it being a familial condition.

Systemic mastocytosis is classified into four forms:
1.The majority of patients have what is referred to as an 'Indolent' form that is not known to alter life expectancy and the associated clinical findings define their treatment and management.

2.If the blood system is involved ('associated haematologic disorder'), then the nature of the blood disorder dictates the treatment required and the prognosis which can vary widely.

3.In 'Aggressive Systemic mastocytosis' the liver, spleen and lymphatic system are involved and the prognosis is poor.

4.'Mast cell Leukemia' is the rarest form of the disease and is invariably fatal.

The clinical symptoms a patient experiences when suffering from the condition are due to the mass of mast cells present in the tissue concerned and include recurrent headaches, itching, flushing, palpitations and fainting, gastric ulcer disease and lower abdominal crampy pain. These systemic changes contribute to bone pain and malabsorption and produce small, reddish brown macules or papules, termed urticaria pigmentosa within the skin which are present in 90 percent or more patients with indolent systemic mastocytosis.

The diagnosis is suspected first on the clinical history and physical findings. A 24-h urine collection for measurement of histamine and other metabolites, blood levels of histamine or the mast cell-derived neutral protease tryptase assist in confirming things. Additional investigations may be required depending on the clinical symptoms. Obviously a tissue diagnosis is easy if the skin lesions are present, but to confirm a diagnosis of the systemic involvement of other organs a bone marrow biopsy and aspiration is often performed.