In January 2014, I lay in my government paid-for bed receiving invaluable medical care, and the only thing I could really keep thinking was holy crap, I have derwhatcha? My final diagnosis was in. I have a rare genetic disorder called APECED, or Autoimmune Polyendocrine Candidiasis Ectodermal Dystrophy. Feel free to try saying that aloud. In laymen’s terms, I have a triad of rare diseases: Addison’s Disease, Chronic Candidiasis (in my case of the GI tract), and hypoparathyroidism. The good news is I appear ok on the parathyroid front for the moment. I’m borderline, but compared to everything else, it’s easily managed.
Some of the other fun things I have: enamel hypoplasia (meaning I’ve got three college funds, two vehicles, and a vacation home’s worth of dental work in my mouth), chronic dryness of my eyes and mouth, malabsorption, autoimmune uticaria (hives), low immunoglobulin levels, iron absorption issues, and these are just the ones I have developed so far. There is a much longer list of things I might look forward to. (Please no, really, I’ve had enough already!)
For the first time in my life, everything had come together and was being treated as one. Addison’s is a rare diagnosis by itself… managing it in conjunction with other conditions is a blind shot in the dark. The doctors at the NIH have seen multiple cases of APECED. I was the 20th in this study. But how rare is it? Well, Addison’s alone is rare enough to be considered an Orphan Disease. APECED is so rare, there are no numbers available at this time for the United States. There are an estimated 500 cases worldwide. I have consented to be included in a database that will hopefully someday provide that kind of information…. and maybe a whole lot more.
I made my contributions to science that week. I did not think I had any blood left, and frankly, every part of me was poked, prodded, x-rayed, biopsied…hopefully to help people in the future.
Do I have bad days? Absolutely. Do I have dark days when I wonder what I ever did to deserve this? Yup. So how do I face it? How do I keep going? The good days can be really good. I have a loving husband, a beautiful daughter… friends and family whom I love and want to enjoy time with. I tell myself it is okay to be scared. It is okay to be anxious sometimes. But those feelings have to take a backseat and be kept in check. Because at the end of the day, I want to be a wife, a mother, a daughter, and a friend… who happens to have an APECED diagnosis.
“Look at the choices you have, not at the choices that have been taken away from you. In them, there are whole world of strength and new ways to look at things.” –Michael J. Fox