Me with Mastocytosis

Today, 20 October 2018, is the first International Mastocytosis and Mast Cell Disease Awareness Day.  Mast cell diseases are rare; approximately 1 person out of 10,000 has one of the range of diseases, which means about 32,500 people in the US have a mast cell disease.  I certainly had never heard of them before I was diagnosed with one, indolent systemic mastocytosis, earlier this month.  My disease is even more rare; I’m the first case that my hematologist has ever met, which makes sense as there are about 11,000 of us in the US overall.  I have done a LOT of reading and learning these last few weeks, as I have tried to get a better understanding of my condition, my prognosis, and what life with this disease will be like. 

So, in honor of the first awareness day and my new diagnosis, I want to share some information with you. 

Everyone has mast cells.  They are part of your immune system – made in the bone marrow, stationed everywhere in your body – and they announce emergency calls and send the rest of the immune system cells to fight infections and heal wounds.  Mast cells are essential and amazing.  On the bad side, they cause inflammation and are responsible for allergic responses: itchy skin, sneezing due to pollen, hives due to mosquito bites, anaphylaxis due to peanuts, etc.  If you’ve ever popped Benadryl or Zyrtec, you’re trying to negate the effects of your mast cells and their abundant histamine release. 

Folks with mast cell diseases have dysfunctional mast cells or, put another way, they have extraordinarily hyper-responsive mast cells.  In this case, the mast cells put out emergency alerts for situations that are relatively benign – heat, cold, sunlight, food, beverages, medications, fatigue, plants, exercise, scents – as well as situations that are problematic, like stress, injury, pain, drugs, and insects.  The dysfunctional mast cells don’t respond rationally either; they hit the panic button early and often, and sometimes folks with mast cell diseases go into anaphylaxis as a result.  I now have a set of EpiPens that I carry with me everywhere I go because I cannot trust my mast cells to have reasonable responses to everyday living. 

In addition to having hyper-responsive mast cells, folks with these diseases have too many mast cells, period.  Our bone marrows keep making more (sometimes instead of making other immune system cells) and the dysfunctional mast cells live way longer than they should, so they build up in the body.  If a person is really unlucky, then their dysfunctional mast cells pick a certain organ to concentrate on, which can ultimately lead to organ failure. 

As a person with a rare, lifelong disease, I feel extraordinarily lucky.  Let me tell you why.

1.      The disease does not have hereditary effects.  My daughters are safe, my sister is safe, my parents are safe from the disease.  This was my first question after my diagnosis and I was so relieved to hear that it will affect my body only.

2.      Further testing has revealed that my bone marrow mast cell production rate is reasonable – I’m nowhere close to the leukemia or lymphoma cancer versions of the disease – and my mast cells are not currently targeting a specific organ.  They are just spreading out into various body tissues and chilling there.  My reaction rates and levels are low.  I’m expected to have a normal life span. 

3.      The symptoms that I currently experience are exceptionally manageable; in fact, I’ve been dealing with them my entire life because I’ve unknowingly had the condition and many of the symptoms my whole life.  In retrospect, the disease explains many things that I never understood about myself.  Some symptoms are irritating and I have many on the list below but on the whole they are mild and it could be so much worse.  It's not currently affecting me neurologically and I am so, so grateful.  

I’ve often said that I have a kickass immune system because I rarely get sick.  Turns out that’s only partly true.  From all the testing I’ve done, I’ve also been diagnosed with leukopenia – I have a small immune strike force with a lower-than-normal number of white blood cells.  However, I have aggressive mast cells that put out the emergency call early so my limited white blood cells get to the scene quickly and take care of business.  That’s a nice side benefit to the condition. 

An unfortunate side effect is that I cannot be a donor; since my body is defective, I’m not allowed to share parts of it with other people.  I can no longer donate blood, I removed myself from the bone marrow donor registry, and I won’t be an organ donor when I die.  Learning that I could no longer be altruistic in this way was the only time I have cried about the diagnosis. 

If you’d like to learn more about mast cell diseases or specifically indolent systemic mastocytosis, I’m happy to talk with you and share what I know.  Additionally, you could check out The Mastocytosis Society website or, for even more in-depth reading, you could read through the FAQ page of Mast Attack. 

Thanks for learning more about this rare disease.  Happy International Mastocytosis and Mast Cell Disease Awareness Day!