Rare Disease Day 2020- Living with CREST Syndrome

To thine own self be true.

William Shakespeare

Happy Rare Disease Day! Today is truly the one day a year where I feel seen and heard by everyone, not just by the people who I know support me. CREST Syndrome is my main diagnosis, and that diagnosis came in October of 2017. There are less than 200,000 diagnosed cases of CREST in the entire country, making it a rare disease. CREST can be extremely confusing, but I’m going to explain it the best that I can. CREST, which is also known as Limited Scleroderma, is an autoimmune/connective tissue disease. Each letter in CREST stands for a different illness. So basically it’s like having 5 different diseases all wrapped into one. The C in CREST stands for Calcinosis, which is actually how I was diagnosed. A calcinosis is a formation of calcium deposits, in CREST, they present in the hands, feet, and face. I had a calcinosis on the side of my nose for 7 years, and I eventually went to get it removed for cosmetic reasons, of course thinking it was nothing more than that. After having it removed and tested, my dermatologist reached out to my rheumatologist and told her to consider CREST as my diagnosis, and that is how I was eventually diagnosed. The R in CREST stands for Raynaud’s Phenomenon. This is the one that effects my day to day life the most. Raynaud’s is when the blood vessels in certain areas, such as fingers and toes, spasm in response to cold temperatures, causing decreased blood flow to those areas. My fingers and toes turn white, purple, and red when I’m in cold temperatures. It can be very painful and extremely frustrating. It’s something that I have to watch very closely, because ulcers can happen. One of the medications that I take is specifically for my Raynaud’s, and it has helped me so much. And of course, wearing multiple pairs of socks with Uggs, and gloves. Also, hand and feet warmers have become my best friends. The E in CREST stands for Esophageal dysfunction. Basically this just means problems with the esophagus, I have a large hiatal hernia in mine. It is when part of the stomach pushes up through the diaphragm muscle. It was found during an endoscopy, luckily I didn’t have to get it removed because it still slid, and wasn’t getting stuck. The only discomfort it causes me is bad heart burn, but I can handle it. The S in CREST stands for Sclerodactyly. It is a localized thickening and tightness of the skin of the fingers or toes. Thankfully this is the disease I haven’t yet had any symptoms of. It is something that I have to watch for very carefully though. It can become dangerous because it could eventually cause the hands to curl inward and get stuck. Sclerodactyly can lead to systemic scleroderma, which is a scary disease that can be incredibly dangerous. This is the reason that I can not be on any long-term steroids like Prednisone, because nobody knows if sclerodactyly/scleroderma is laying dormant inside of me, and steroids can bring it out if it is. So in my case, it’s better safe than sorry. The T in CREST stands for Telangiectasia. This causes small red spot on the hands and face that are caused by the swelling of red blood cells. I get these spots sporadically, and not very often. They don’t cause me any pain, they’re just noticeably visible. Living with CREST Syndrome has been the hardest thing that I have ever gone through. Every day is different, and every day is hard in different ways. I have to be very aware of any new thing that shows up on my body, or any new pain that I have. It’s hard to have a rare disease, so much harder than anyone could ever imagine. Besides my rheumatologist and dermatologist, I have been to one doctor who knows what CREST is. It’s frustrating to have to explain your disease to a DOCTOR. It’s hard to know that the people who went to medical school have no idea about the disease that you’re suffering from. But that is why I try so hard to raise awareness, because at the end of the day this is my real life, my real diagnosis. The message for Rare Disease Day this year is “rare is many, rare is strong, and rare is proud”. There are so many more people suffering from a rare disease than you realize, and all of those people that are suffering, including myself, are strong and proud of who we are. I’m aware that I am rare, and even after everything I’ve been through these past 3 years, I’m so happy to be me (rare disease and all!) Always remember that rare is real.

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