Rare Disease Day 2021

Though she be but little, she is fierce.

William Shakespeare

Happy Rare Disease Day! I love this day, because it gives me a chance to talk in detail about my rare diseases, and it gives me a chance to raise awareness. I have 2 rare diseases, CREST Syndrome and Mixed Connective Tissue Disease (MCTD). I’ve written posts about both of them before, but I’ll give a quick rundown of both in case you don’t want to scroll all the way back. CREST Syndrome is a category of Scleroderma, which is a rare group of autoimmune diseases. According to the Genetic and Rare Disease Information Center (GARD), Scleroderma affects an estimated 300,000 Americans- less than .1% of the country’s population, with CREST being even rarer (less than 200,000 people are diagnosed). Scleroderma causes the immune system to produce too much collagen, causing the skin to become hard and stiff. CREST Syndrome is also known as Limited Scleroderma, meaning that only limited areas of the skin are thick, usually just the hands and face. CREST stands for calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias. A lot of big words that probably look scary, but they aren’t too serious with the proper care & treatment. Every single patient with CREST has a different pattern of symptoms. For me, Raynaud’s affects me the most. I can’t regulate the temperature in my hands and feet, so when it’s cold out my fingers and toes will turn red, white, and purple, plus they’ll go numb. Luckily I’m on a medication called Norvasc, which is a calcium channel blocker. It is most commonly used to treat high blood pressure, but it helps my Raynaud’s by relaxing the blood vessels, making it easier for blood to flow. It has helped me so much, and I’m so thankful for it. I also make sure to bundle up when it’s cold out- which means 3 pairs of socks & Uggs on my feet, and hand warmers & gloves on my hands. Raynaud’s can be uncomfortable, painful, and annoying, but it’s nothing too hard to have under control. Second to Raynaud’s for me is esophageal dysmotility. It most commonly leads to problems swallowing. In my case, I have a fairly large hiatal hernia in mine, which was found through an endoscopy. It doesn’t cause me any horrible pain, but it does cause pretty bad heartburn and mild chest pain. If my hernia shifts, I will have to have it removed, but for right now I’m fine. Again, nothing too hard to handle right now thankfully. The other thing in CREST that I’ve had to deal with is a calcinosis. They are calcium deposits in the hands, feet, and face. I had two on the side of my nose, which I got removed about 3 years ago for cosmetic reasons, but the removal ended up leading to my diagnosis of CREST. I will always be thankful that my dermatologist tested them, and reached out to my rheumatologist telling her to test for CREST. I don’t know if I would have the diagnosis right now if it wasn’t for her, and I’m extremely grateful. My other rare disease is MCTD. According to GARD, MCTD occurs in about 2 persons per 100,000 per year. 80% of those are women. MCTD is a autoimmune disease, and the most well characterized overlap syndrome, that has features commonly seen in three different connective tissue disorders: Lupus, Scleroderma, and Polymyositis. Some people may also have symptoms of Rheumatoid arthritis. Some of my symptoms include: lupus-like rashes (I get the butterfly rash), muscle weakness, fatigue, fevers, and swelling in my hands. When it comes to MCTD, my hand pain is the worst. As I’ve said in previous posts, I couldn’t use my hands for 2 months, because I was in so much pain. I am one of the MCTD patients that has the symptoms of rheumatoid arthritis without actually being diagnosed. I have been diagnosed with polyarthritis, which is arthritis in 3 or more joints. Arthritis affects my hands, knees, and hips the most. I’ve come to realize that CREST and MCTD share a lot of the same symptoms- at least in my case. Looking back at the process of being diagnosed, everything makes so much sense now. Overall, I think that CREST affects me more than MCTD, but everyday can be different. In honor of today being Rare Disease Day, I want to throw out some statistics of rare diseases worldwide. According to GARD, there are over 300 million people living with one or more of the 6,000 identified rare diseases around the world. Rare diseases currently affect 3.5%-5.9% of the worldwide population. 72% of rare diseases are genetic, while others are the result of infections, allergies, and environmental causes. A disease is considered rare in the United States when it affects fewer than 200,000 people at a given time. One of the saddest statistics to me is that 90% of rare diseases DO NOT have an FDA approved treatment. That is frustrating & heartbreaking. According to the Rare Disease Day organization, “each rare disease may only affect a handful of people, but taken together the number of people directly affected is equivalent to the population of the world’s third largest country.” Read that again. Crazy, right? And the really mind-blowing thing is, there are probably a million more people living with a rare disease, but are missing a diagnosis. And unfortunately, that comes down to a lack a funding, research, and education on rare diseases. I can’t even tell you the amount of times I’ve had to explain what CREST or MCTD is to a doctor. It honestly shocks me every time, because I can’t believe a medical professional isn’t educated on certain rare diseases. There is still so much awareness that has to be raised. So many people need to stand up and fight for the people suffering. Having two rare diseases is extremely difficult (probably the hardest thing I’ve ever had to live through) but it has given me so much strength and so much motivation to use my voice. We need better healthcare and we need more funding. We have to give people a fighting chance. I’m so lucky to be in the position I’m in, and I will never stop advocating for what I believe in. And I believe in talking about chronic & mental illness, and two of mine just happen to be rare. I encourage you all to get involved, and even if you’re not the one who has a rare disease, advocate for the people who do. I think that listening is so important, you can learn so much just through words. If you would like to donate, I’d suggest going onto the National Organization for Rare Disorders (NORD) website, where you can become a one-time or monthly donor. The money goes to rare disease research. It’s hard to have rare diseases. I didn’t think I would ever be okay. I didn’t think I would ever be me again. But the truth is, I have become so much more than I was, and so much more than I ever thought I would be. Being rare has taught me how to advocate for myself, and it has helped me find my voice. And I’ve learned a lot not just about myself but about other people as well. I guess in a weird way I’m thankful. For this body, this heart, this mind, this life. Even if it comes with a few rare diseases (hey, it’s a great ice breaker at parties lol). I’ll end this post with one of my favorite quotes from a book I think very highly of, The Two Lives of Lydia Bird by Josie Silver. “I found the old me, still in here, and the new me sitting right alongside her. We made friends.” Happy Rare Disease Day, everyone!