- Posted January 22, 2014 by
West Chester, Pennsylvania
This iReport is part of an assignment:
Living with a rare disease?
Living with Mastocytosis
Systemic mastocytosis is a disorder caused by a genetic mutation that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine. But if you have systemic mastocytosis, excess mast cells can build up in your skin, around blood vessels, in your respiratory, gastrointestinal and urinary tracts, or in reproductive organs. When triggered, these mast cells release substances that can overwhelm your body and result in symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, light-headedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications.
Several types of systemic mastocytosis exist. The most common form — indolent systemic mastocytosis — progresses slowly. The second most common form is systemic mastocytosis associated with a second blood disorder. Another type, aggressive systemic mastocytosis, develops rapidly and is often associated with organ damage. Mast cell leukemia and mast cell sarcoma are extremely rare forms of systemic mastocytosis.
2 - PERSONAL INFORMATION:
I have lived with the disease from at least 1994 when my symptoms started surfacing. I was officially diagnosed in 1996-1997 after seeing numerous doctors who could not identify the cause of my numerous issues and symptoms. It is however possible that I had the disease since I was born, and just never knew it.
Early on, I was seen at the NIH in Maryland, as the world renowned specialist on the disease is there (Dr. Dean Metcalfe), because I was someone who seemed to develop the disease at an odd age (mid 20s). But tests were inconclusive as to how long I actually had it.
Since I have been diagnosed with Mastocytosis, I have been diagnosed with numerous other conditions. Through my research, and connecting with others who have the disease via the internet, I have been able to link almost all of these new conditions to my Mastocystosis diagnosis. It is scary at times not knowing what is coming next. To name a few, I have Osteopenia, Diverticulosis, High Blood Pressure, Spondylolisthesis, Myoclonus, Anxiety, ADD,etc. etc.
Living with the disease can be difficult. I end up in the ER at least once per year, where you run into medical professionals who simply have never heard of the disease. As soon as this happens, they attribute whatever you are in the ER for to the disease. Frustrating to say the least, but understandable. I spend a lot of time at numerous doctor's offices due to all of the symptoms that pop up out of nowhere. It is something that I must stay on top of at all times...and it is time consuming to do so. I also have numerous tests every year, ranging from blood work all the way to MRI, CT Scans and Colonoscopies. I think I have had 4 of those at this point....among many other tests.
Truthfully, I am a mild case of the disease. To look at me you would never know there was an issue. I am mild in comparison to many. However, there are folks who I have met online who are way worse off than me, who are in the hospital much more often, who are on way more medication. I feel for them, and read every story I can find.
Little known fact about the disease: Christopher Reeves, the actor, actually had Mastocytosis. I found this out only a few months ago. I do not think he ever mentioned or discussed the disease, as he was very private. But this information has now come to light.
Not sure what else to say. The purpose of me writing this information is to bring attention to this disease. So many people are mis-diagnosed for years. It took them 3 years to diagnose me, and I know many more go through this same thing.
A support group has been set up for the disease, and they have a great web site which provides information, support, and connections. There is also a Facebook page, which is how I have connected to so many in recent months. The web site is as follows: http://www.tmsforacure.org/welcome.php
If you have any other questions, please feel free to contact me.