Hello new and old friends! I have recently reconstructed my blog as I want to spend more time this summer blogging. I just finished my senior year of college, and I have one more semester (The Survivor's Lap) to go! This year was definitely the longest and most academically challenging of my college career. Now that senior year is finally over, I've realized just how crazy and how much work being a full time college student AND managing chronic illness is. To me it feels like having two full time jobs...and that's after only two years of severe chronic illness. So to recap, when I came to college as a little baby freshman (I seriously looked like a child) in 2014 I was already managing celiac disease, IBS, gastroparesis, and gastritis. Freshman year was not exactly successful; I left with many mental health issues. Sophomore year my mental health went downhill quickly, and I adopted my precious emotional support animal, Roger. In November of my sophomore year (2015), I ate at a salad bar on campus and was accidentally cross-contaminated with gluten. About a week later, I realized my joints hurt. It started out as the "big" joints: knees, hips, shoulders, elbows. As time progressed, the joint pain spread to every joint and the pain increased. I started telling doctors, "if it bends, it hurts". I went to my regular doctor and then the process of getting referred to other specialists started. By the beginning of 2018 I had seen eight specialists and tried a truckload of medications, acupuncture, and steroid shots. Keep in mind, during all of these appointments and treatments I was also still a full-time student for the rest of my sophomore year, all of my junior year, two summers of biochemistry (barf), and half of my senior year. I think it goes without saying that I've learned to balance the two things pretty well. After seeing three more specialists, I FINALLY got a referral to the Department of Genetics at the major teaching hospital in my state. I saw a physical medicine and rehab specialist who said that I had hypermobility syndrome. Ever since I was a little kid, I've been super flexible and can bend and move my body in weird ways. I have a host of "party tricks" that I've been impressing or creeping people out with for as long as I can remember. The doctor said hypermobility can be associated with a genetic condition called Ehlers-Danlos Syndrome. My first thought was, "how do you spell that?!" followed by "yeah that test will probably come back negative also." However, as I did more research and learned more about Ehlers-Danlos Syndrome (EDS), it all started to make sense. In February of 2018, my mom and I drove on icy highways to see the geneticist. She had already reviewed my symptoms and called to get a family medical history. As soon as this nurse practitioner walked in the exam room, I knew I would love her. She talked to me for a bit and then felt my hand.
"I can tell by touching your skin that you have Ehlers-Danlos Syndrome."
Even though I expected it, those words hit me like a ton of bricks. For over an hour, we talked about EDS, the complications, and the prognosis. My immediate question was, if this is genetic why doesn't anyone else in my family have it? The NP explained that since there are no signs and symptoms of EDS in any of my living or deceased relatives, they believe one of my genes mutated while I was being knit together, a de novo mutation.
"You are the de novo."
Hearing this caused multiple waves of emotion. Knowing that the mutation started with me, the only other people in my family who would be at risk for having EDS are my biological children. I was relieved that my family members wouldn't have to worry about having EDS, especially my precious 11 month old niece. But I instantly started worrying about the qualify of life my future children would have. The geneticist encouraged me to not worry about the future, but focus on dealing with this diagnosis and getting through college.
My next question was WHY I have multiple food sensitivities, four chronic GI issues, and headaches/severe migraines. The geneticist explained that all my other conditions are caused by EDS, often called comorbidities. That was when it all clicked. Ever since I was diagnosed with celiac disease seven years ago, I could never understand why I kept being diagnosed with more conditions. This was all so overwhelming, but it brought answers, closures, and peace. After the geneticist left, I burst into tears because I finally had an answer.
So what is this EDS? Ehlers-Danlos Syndrome is a genetic disorder that affects connective tissue and collagen. The reason why all my joints hurt is because the collagen in the connective tissue surrounding each joint is very weak and doesn't function properly. There are over 10 different types of EDS. I only have the hypermobility type (often called hEDS). Some types of EDS can be life-threatening. Thankfully hEDS is not.
Trying to comprehend all of this has been difficult, I won't lie. I didn't understand why God, when He was knitting me together, threw in a genetic mutation. For a couple weeks I was so bothered by this and stressed that my sleep was terrible and I had no appetite. A friend encouraged me to read Psalm 139 where the Psalmist talks about how as humans we are knit together and designed by God Himself:
For You created my inmost being;
You knit me together in my mother’s womb.
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I praise You because I am fearfully and wonderfully made;
Your works are wonderful,
I know that full well.
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My frame was not hidden from You
when I was made in the secret place,
when I was woven together in the depths of the earth.
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Your eyes saw my unformed body;
all the days ordained for me were written in Your book
before one of them came to be.
Reading this psalm started to transform my perspective on having EDS. Instead of being angry or ashamed that I have EDS, I followed Psalm 139 and praised God for making me so unique. It says in the psalm that we are "fearfully and wonderfully made" and God's works are "wonderful". When I told my brother and sister-in-law that I had EDS, the first thing my brother said was, "so you're a mutant?!" Some people might take offense to that, but I still find it hilarious! I'm learning to embrace my mutant self.
Yes, there are big battles every day. Yes, I am in pain the second I wake up and the second I fall asleep. Yes, I am nervous for what my future might look like. BUT...yes, I laugh every day. Yes, I have an army of family, friends, and classmates who have supported, accepted, and loved me no matter what. Yes, I find joy in the simple things. Yes, I have Ehlers-Danlos Syndrome but that changes nothing about my spirit and my soul.
It's Not Over Yet. Keep on keeping on,
Sarah :)
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