If you’ve been a regular follower of my blog then you know that I talk a lot about my experience with the autoimmune condition Crohn’s disease. However, Inflammatory Bowel Disease is only one of the many autoimmune diseases that girls with TS are at an increased risk for. Others include autoimmune disease of the liver, hypothyroidism and Hashimoto’s thyroiditis, diabetes, celiac, arthritis, pernicious anemia, thrombocytopenia, psoriasis, and Addison’s disease. Doctors have found that girls with TS have an increased level of antibodies compared to the general population which is likely the contributing factor for this increased risk especially when combined with missing genetic information from the second x chromosome. As such, it is very important that girls with TS get regular check-ups so that these problems can be caught and treated in the early stages.
Growing up, I visited both my pediatrician and endocrinologist about two times a year and I always dreaded these appointments because I knew it meant being poked and prodded. I remember praying that they wouldn’t find anything wrong so that I could avoid any invasive tests, extra bloodwork or, God forbid, surgery. Thankfully I usually checked out ok and often only had to get bloodwork once a year. Unfortunately for my parents, I was one of those kids that cried in the lab chair until the age of 7 or 8 so those trips were never fun, although the lollipop and sticker afterward were definitely a welcome treat. As I got older I began to get used to my semi-annual trips to the hospital but still always had a sense of dread going into them and only relaxed when my bloodwork once again came back in normal range. When I suddenly started feeling unwell the summer after I graduated, I was absolutely terrified and tried to hide it from my parents so that I wouldn’t have to go to the doctor. You can imagine, then, how desperate and in pain I must have been when I finally worked up the courage to speak to my endocrinologist about it, even bringing up the possibility of IBD. Much to my disappointment, my concerns were brushed off, my endocrinologist stating that my celiac test had been negative and the rest of my bloodwork looked good so it was probably just lactose intolerance. Six months later I would end up in the ER, weeks from death, and diagnosed with Crohn’s disease. Needless to say, I switched endocrinologists shortly after and am so glad that I did. Unfortunately my last bloodwork from my endocrinologist showed that I do have an increased level of antibodies to my thyroid but thankfully it hasn’t yet turned into thyroid disease and I hope to keep it this way. After all, one autoimmune disease is more than enough!
Although I wouldn’t wish autoimmune disease on anyone, it has helped me to overcome my fear of doctors and needles and get more comfortable with speaking up and advocating for my health. It has also shown me the importance of surrounding yourself with a good healthcare team that you can feel comfortable talking to and trust that they will listen and take your concerns seriously. Not only that, but it has helped me to be more aware of what I put in my body and drastically improved the way that I eat. I feel that this has been a huge contributing factor in helping me avoid thyroid disease despite having the risk factors as well as the other health problems that can come with TS and is a big part of why my recovery from my Crohn’s surgery was so smooth. Finally, it has helped me to be more grateful for the little things in life instead of taking them for granted. As I said in one of my other posts, I hope that my story gives my fellow butterflies the courage that they need to seek the best healthcare possible and live the happy, healthy life that they deserve.