There is a quote from my favorite comic book that goes, “You get what everyone gets…you get a lifetime.” Those words, from my favorite character and written by one of my favorite authors (Neil Gaiman), have stuck with me for years. It doesn’t matter how long you live. You’re given a lifetime and what matters is that you make the best of the time you have. Making the best of the time you are given is a task that can be much harder when you are affected by a disease that no one understands or worse, no one is trying to learn more about.
I coordinate a registry for rare diseases for a health system and our goal is to accelerate research into these rare diseases so that each individual diagnosed with a rare disease can get the most out of his or her lifetime. At the moment, approximately 95% of rare diseases have no FDA approved treatment – including mine.
I was diagnosed this year with a rare connective tissue disorder that affects my entire body. Essentially that means I have hyper-mobile joints that put me at risk for spontaneous dislocations, early osteoarthritis, chronic pain, and a host of other things. For the years of questioning and frustration leading up to my diagnosis, I had always hoped there would be something I could do to course-correct and heal my body. However, upon receiving my diagnosis, I learned that the condition I have has no treatment or cure; palliative care is the best I can hope for.
At first the news seemed daunting and depressing, but after taking some time to reflect on my situation, I came to a realization. I had more than I had a week earlier – I had a reason for my body’s failings and I knew I was not crazy for thinking there was something wrong. I knew that there was nothing wrong with my heart (which had been a concern at first) and that I had a normal life expectancy. These were positives and I forced myself to take a different perspective. I now knew the source of my problem which has allowed me to create a new plan and a new set of goals. I could manage the pain and live a healthier lifestyle. I could invest in my care, take charge of the life I have and enjoy every moment of it. The diagnosis helped to affirm another set of goals that I had solidified only months earlier – a decision to leave a life of science and pursue a career in the realm of politics and policy.
My story of waiting for years for a diagnosis is in no way unique in the rare disease community. So many of these diseases take five, ten, fifteen years to diagnose and finding a diagnosis is only half the battle. But in the face of these trials so many rare disease patients have blossomed into truly empowered people who are self-advocates. I hope to do the same. My work in the rare disease community has introduced me to mothers fighting for children with terrible prognosis and succeeding, to researchers determined to help them, and to patient advocates who have lost their own battles but are still fighting for the children of others. I have been privileged to become a part of this community and I find myself hoping to become an advocate myself, but not just for myself – for all of them as well.
Through college and working as I do in scientific research with close ties to health care providers, I had originally planned to go into medicine and help change lives on a very individual level. But after months of working in this field, I realized I could help on a much different level, the national level. So I have changed my dreams to focus on law school and then moving into politics so I can help reform the health care system (and all the other aspects of the country too!) so that patients like myself can get the care they need.
I hope to see the number of rare diseases without treatments drop to 5% (and then hopefully 0%) instead of 95%. I hope to see people with difficult to manage diseases living their lives to the fullest instead of being hampered by a broken system. I hope to serve the community of patients I have come to love. And I think it’s possible to accomplish these goals. I won’t let my disease hold me back.
I hope that no one is held back from living his or her lifetime to the fullest – after all you only get one. And my hope for you is that you can find a community to love and serve that can help you make the most of your lifetime.
Natalie Simpson is a recent college graduate working as a research associate and figuring out who she is. She has a Bachelor’s degree in Molecular, Cellular, and Developmental Biology with hopes of attending law school someday soon. Much of her time is spent reading on every topic under the sun (and including the sun) and when not reading she’s thinking about how to change the world.
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