By Jen Melanson with Emma Rooney
I am very excited to, once again, be part of the Running for Rare Team, this year as a runner. Iâ€™m training to take part in the Providence Half Marathon which is less than a month away! Allow me to introduce my 2016 rare community partner, Emma Rooney. Two things we have in common: we are both adults living with rare disease and we are both active rare disease patient advocates.
Emma lives with type 1 Gaucher disease, a lysosomal storage disorder (LSD). Emma was diagnosed with her condition at the age of three and was able to start on treatment as a teenager. If you havenâ€™t done so already, you can view Emma’s digital story, about growing up with Gaucher, at the My Normal storytelling project.
I developed my rare disease, hypoparathyroidism, in 2004, the result of damage to my parathyroid glands during surgery to remove my thyroid. Hypoparathyroidism causes calcium deficiency in the blood, resulting in muscle spasms, weakness, fatigue, cognitive impairment, and other serious comorbidities.
Besides having rare disease in common, Emma and I have also discovered a shared love of good coffee, beer, dogs, and running.
Even though Emma is currently living in Germany, and Iâ€™m in Massachusetts, we are enjoying getting to know each other via a regular email and photo exchange. As a way for you all to get to know us as well, weâ€™ve compiled a few questions, along with our answers, to share here:
- What made you want to get involved with Running for Rare?
Jen: In 2009 I had the opportunity to participate in a six-month clinical trial for a new treatment for hypoparathyroidism. The trial changed my life. When it ended I knew not only that I needed to find a way to continue on this new treatment, but that I wanted to do all that I could to help others with my disease access the best treatment options available. This is how my passion for advocacy was born.
I began running in 2008 but have been a huge fan of the Boston Marathon for a long time. Iâ€™ve even volunteered with the B.A.A. on Marathon Monday for several years. When I learned about Running for Rare, I thought it sounded like the perfect opportunity to continue my advocacy work, while also combining it with a sport I love.
- Can you describe a special memory from your past involvement with the Running for Rare Team?
Emma: In 2014, my Running for Rare partner at the time, Andrew Scholte, ran the Boston Marathon on my behalf. Throughout the race, I tracked Andrewâ€™s progress online, and cheered Andrew on while I slowly tackled the marathon distance myself. When I heard that Andrew had crossed the finish line, it was a proud moment that I got to share in.
A few months later, I participated in a 100km ultramarathon for a special friend with Gaucher disease and Parkinsonâ€™s. It was a huge distance to tackle, and I didnâ€™t know if Iâ€™d be able to complete it, but being part of the Running for Rare Team, I never felt alone taking on the challenge. During my race, Andrew and Jessi Colund, both team members, showed their support by getting together for an after work run. Receiving their long distance message, saying that they were running with me from Boston, was a great boost in the journey, that helped me get to the finish. For Jenâ€™s race this year, I plan to have my running shoes ready and will join the event in spirit. Iâ€™ll be cheering for the entire team!
- What do you wish more people understood about living with your rare disease?
Jen: I wish people knew that calcium is important for so much more than just your bones. I wish they understood that drinking a glass of milk is not going to cure me. And I especially wish people understood that hypoPARAthyroidism and hypothyroidism are two distinctly different diseases, and that I cannot just pop a tiny little pill each morning and be â€œall better.â€ Hypoparathyroidism is complicated to manage. I am aware of my disease and actively managing it every single day.
- What are some challenges of being an adult living with rare disease?
Emma: I was born with Gaucher disease, and itâ€™s always been a part of my life. Many aspects of managing my rare disease have become routine. Itâ€™s normal for me to schedule regular doctorsâ€™ visits and medical tests. Times that standout, as being more challenging living with a rare disease, are in periods of transition. One such time was the transition from being followed at a childrenâ€™s hospital, to being moved to an adult hospital. This meant getting to know a new healthcare team, and also taking more control, as a young adult, over my care.
More recently, I dealt with a major move from Canada, to live in Europe. This required a lot of pre-planning to ensure that I would find a specialist for my condition and be able to access the healthcare I needed while living abroad for an extended period. The process was facilitated by travelling with a copy of my medical file, and the willingness of my old and new medical teams to communicate with each other. My health isnâ€™t something I can play by ear when I decide to make a significant life change, but I know that taking the time to problem solve, greatly reduces bumps on the journey.
- Whatâ€™s your favorite thing to do after a hard run? Favorite post-run food or drink?
Emma: When Iâ€™m in training mode, I typically aim to run a longer distance on Sundays. It always helps me get through the last part of the run knowing that my husband is preparing a pancake breakfast for when I return. Even in Germany, we always keep the cupboard stocked with maple syrup. The sweet treat and a cup of coffee are key ingredients to my Sunday running ritual.
Jen: I have a nice, oversized whirlpool tub in my master bathroom. So, particularly when the weather is raw, I love a long, hot soak in lavender scented bubbles with Epsom salts after a run. I often crave red meat after a race and usually will go for a cheeseburger. And, especially if itâ€™s really hot, thereâ€™s nothing like an ice cold beer.
- Whatâ€™s your funniest or most embarrassing treatment or hospital story?
Emma: For a few years, I lived with a roommate who had two pet bunnies. One rabbit was especially fond of snuggling up on the couch, and one day, got a bit too close, deciding to take a bite out of my IV infusion line. It was a bit tricky having to explain the situation at the emergency room, but luckily everything turned out safely in the end. The bunny and I remained close friends, but needless to say, he was excluded from all future home infusions.
Jen: When I was in my first clinical trial at The National Institutes of Health (NIH), I was told that although I was being treated in-patient, I could mostly come and go as I pleased. After my first day of testing, I decided to go out for a walk and explore the area. What I was really after was a good cup of coffee! As I exited the gates of NIH in search of a local coffee shop, I was abruptly stopped by security. The security officer asked if I was a patient (my hospital ID bracelet gave me away). When I answered yes, he asked if I had a pass to leave? When I answered that I didnâ€™t realize I needed one, I was placed in the back of a security cruiser and driven back to the clinical center. The nursing staff on my floor had been alerted to my attempted â€œescapeâ€ and were waiting, amused, as security escorted me back to the nursing station. I was sure to have a pass (doctorâ€™s order) on file for all subsequent outings!
Members of Running for Rare will be taking part in the Boston Marathon on Monday, April 18th. The team will be at the Providence Marathon and Half Marathon on Sunday, May 1, 2016.