For me, it’s quite fitting that Rare Disease Day happens in February. It is also the month that I developed my rare disease. On February 2, 2004, I entered the hospital to have my thyroid removed. The next day, I left the hospital with a rare disease, hypoparathyroidism. During the surgery, my parathyroid glands were so damaged that they were unable to regain function. Without functioning parathyroids the body is unable to make parathyroid hormone (PTH), which is responsible for calcium regulation in the bloodstream. Without PTH, calcium is eliminated from the body through the kidneys, leaving the blood with very low calcium levels. Calcium is responsible for more than just making strong bones. It is essential to muscle function, including organ muscles like the heart. Hypocacalcemia, or low calcium, causes muscle spasms, cramping, tingling in the extremities, weakness, fatigue, arrhythmias, cognitive impairment, and in extreme cases, full tetany and even death. Only about 1% of thyroidectomies result in hypoparathyroidism. I was one of the “lucky” ones.
Navigating the Unknown
The first five years with the disease were the most difficult. I struggled to find a physician who was knowledgeable about my rare disease. Most doctors I saw knew very little and were content to see me and check lab work just once a year. I was left to learn to manage the disease on my own. I became very keen at sensing when my calcium levels were dropping. I learned what triggers caused a drop in levels, like stress or illness, and I took extra calcium when I felt I needed it. But it was all guesswork. And no matter how much calcium I took, I never felt “normal.” I was constantly fatigued, barely able to keep up with my three young kids, my job, responsibilities in the house. I had no extra energy for socializing or extracurricular activities. I became withdrawn, depressed, and felt very alone.
A Better Way of Living
But at some point, something in me snapped. Something inside me made me look around, see my three kids, and decide that hypoparathyroidism was not going to do me in. I thought, there must be a better way to live with this. I began researching everything I could find on the disease, which, honestly, was not a whole lot. I stumbled upon the Hypoparathyroidism Association through a search engine. It was through this organization that I learned of a new clinical trial for the treatment of hypoparathyroidism about to take place at the National Institutes of Health (NIH) in Bethesda, MD. I decided to take a chance. Within a month I was in Bethesda for my first study visit. The clinical trial changed my life, giving me exactly what I was looking for – a better way of living.
Becoming an Advocate
I spent the next six years in clinical trials. After that first trial at NIH ended I moved into another trial at Mass General Hospital. It was during this time that I started to get involved in advocacy. I had found that better way of living, and I wanted to share it with other hypoparathyroidism patients. I volunteered with the drug company that manufactured my study drug, helping with various outreach and education programs about my rare disease. I began a support page on Facebook for other hypoparathyroidism patients where we could share stories, tips, and encouragement. When my study drug went before the FDA for approval, I traveled to Washington to deliver patient testimony in support of the drug. The drug gained FDA approval and is now commercially available.
Running for Rare Diseases
Last year, I had the chance to get involved with another avenue of bringing awareness to rare diseases. Running for Rare Diseases “is made up of passionate and committed individuals seeking to make a meaningful difference for the rare community.” (http://rarediseases.org/get-involved/join/participate-events/runningteam/) The program matches runners (marathon and half marathon) with rare disease patients so they may collaborate to raise awareness for their specific rare disease, and funds to support the NORD/NIH Undiagnosed Diseases Network (UDN). I was matched with a runner, Amy, who was to run her first marathon, the 2015 Boston Marathon. Through blog posts and fundraisers and social media, Amy and I worked to raise awareness for hypoparathyroidism. Amy trained through the worst winter Boston has ever seen, all the while remaining committed to her goal of raising awareness for a rare disease. The weather on marathon Monday was miserable… cold, rainy, raw. Amy spent six hours on that course, running with my name on her shirt, and completed her first marathon in the name of hypoparathyroidism. It was one of the most selfless acts I had ever witnessed. I was humbled that someone would push herself so far for something that did not invade her own life.
I was so inspired by Amy that I decided to run my first half marathon. Amy was there with a sign, cheering me on. This year I will again run a half marathon, but this time I hope to be part of the Running for Rare Diseases team. Not only is my goal to continue to raise awareness for hypoparathyroidism, but I’m hoping to be matched with another rare disease patient and raise awareness for their disease, as well.
By banding together, we can bring more attention to rare diseases, raise more funds for research, and give all rare disease patients a better way to live.