I was not born with a rare disease. I was a healthy, active, “regular” kid. I played hide-and-seek until the streetlights came on with all of the other kids in my neighborhood. I walked to school, played softball and basketball, went to prom, then to college, fell in love, got married, had children. I had more than thirty years of being me. Then, in February 2004, I went in for a necessary, but not uncommon, surgery to remove my thyroid. And everything changed.
I have Hypoparathyroidism, a result of my parathyroids being permanently damaged during thyroid surgery. Only about 1% of thyroidectomies result in permanent Hypoparathyroidism, which causes chronic low calcium levels in the bloodstream. Symptoms of low calcium (hypocalcemia) include numbness and tingling in the body, usually starting in the extremeties, muscle spasms and cramps (tetany), weakness, fatigue, anxiety, and cognitive impairment. Over time chronic hypocalcemia can lead to kidney failure, cardiac problems, and calcifications throughout the body, including in the brain.
My life changed in a matter of hours. I went from being a healthy, active, productive wife and working mother of three, to a “sick” person with a rare disease. (For more on the sudden impact of Hypoparathyroidism on my life, http://www.everydayhealth.com/columns/my-health-story/hypoparathyroidism-ever-after/). I spent the first year after my surgery barely managing to function. But with most any kind of change, once enough time passes, you adjust to a new level of “normal,” and this is how it was for me. I slowly figured out how to get by and resumed some of my old life, if in a diminished capacity. I spent the next few years feeling as if life was “good enough.” But after about five years, I began to question whether things could get better. That questioning led me to seek out a clinical trial for new treatment for Hypoparathyroidism. I dove into the ocean of clinical trials, head first, and swam for my life. Clinical trials have changed my life, and maybe have even saved my life.
My success with my first clinical trial led me to a second trial, where I continue to receive treatment that vastly improves the management of my disease and my quality of life. This gave me the push I needed to start widening the lens of my own view of my disease. With treatment, I was able to resume activities that I thought would never again be possible for me, as well as begin new adventures, like running and skiing. My hope was that by sharing my story, I could help others with my disease see that it is possible to do more than just exist with Hypoparathyroidism. You can LIVE! I have taken an active role in advocating for patients with Hypoparathyroidism, even starting a Facebook group called Athletes Beating Hypopara (https://www.facebook.com/groups/241953872682102/). This is why I chose to get involved with the Running for Rare Diseases team.
I recently met with “my” runner, Amy. We had been exchanging texts and emails for a few weeks already, so our first meeting held much excitement for me. I went straight to Amy’s house from a study visit for my clinical trial where I’d gotten some exciting news. The study drug I receive was just approved for use by the FDA (a process I had been very involved with), and the morning before I met Amy I learned that I would soon be able to get my drug via prescription rather than having to be in a clinical trial. I talked with Amy about how excited I am to soon be free of the study. Because as much as it has improved my life, being committed to a clinical trial has also created very real burdens. Life will be much simpler once I can get the medicine I need delivered right to my door from a specialty pharmacy. This med enables me to live an almost “normal” life. Huge chunks of time pass where I practically forget I even have Hypoparathyroidism because of this med.
And then, just a few days after meeting Amy, I was very rudely reminded that I do, in fact, have a serious disease. I woke feeling that something was very, very wrong. I was shaky and weak, with muscles twitching, spasming, and cramping, my whole body burning and buzzing, unable to think straight. I soon realized that when I’d gone to bed early the night before I’d forgotten to take my meds. It’s not something that happens very often because I am so completely med-dependent. As long as I take my meds on schedule (and I have to take them several times throughout the day) I can feel great. But forgetting just one dose will send my body into a calcium crash. It took 24 hours, 6000mg of calcium and other extra meds, a wonderfully attentive and responsive physician, and the support of my family just to get me back to feeling ok. The episode reminded me of just how lucky I am to be able to get this drug via clinical trial. There are so many Hypopara patients who do not yet have access to this drug, who live most days dealing with the difficulties of my one day after a missed dose of meds. It’s why I do the advocacy work. It’s why Amy is running for Hypoparathyroidism. It’s why you all are Running for Rare Diseases. Thank you!