When Doctors Get Excited About How 'Rare' I Am

Having a rare disease just might be the worst thing that has ever happened to me, but it’s a bit of a paradox.

Having every single, doctor, nurse, resident and medical student tell me how rare I am, again and again, wide-eyed with excitement as if they are giving me a compliment, only adds to the frustration. No, I am not impressed by my rare condition. Frankly, it sucks. No, I don’t think it’s wonderful you get to treat me. No, I’m not happy my tumors will be in a medical journal. I really wish I could be like one of those people that just make an occasional doctor’s appointment, like, “Hey doc, there’s a rash on my butt, here, take a look.” Unfortunately, my life will never be that simple. The pain, the surgeries, the tests, the meds. The reality is that it’s difficult and dangerous, and I never get a break from it.

I been given the dubious honor of having a mutated gene responsible for multiple endocrine neoplasia type 2a. This has caused medullary thyroid cancer, as well deadly hormone-secreting tumors of the adrenals called pheochromocytomas. It has changed the plans for my life dramatically. I will never be done fighting this disease. It is part of my life forever. I did wind up losing my adrenals to these tumors. It sure beats losing my life, but the cost is adrenal insufficiency. Another rare, little-understood and life-threatening condition to add to the collection.

I also passed this rare, genetic honor on to my daughter. She is still too young to realize the implications of this, but she is why I fight. A better quality of life for her generation is why we need to push for research on new diagnostics and treatments for rare diseases. With an estimated 350 million people living with rare diseases worldwide, being rare is not as uncommon as you want to believe.

My disease has changed me completely. I take it all in stride, but for the sake of honesty and reality, I will tell you it has been a long and grueling experience. It has grown me, no doubt. I am definitely a better person for it. Knocking me flat gave me a whole new perspective of the world. Suddenly life is no longer a race. There is no finish line. This is it. It’s happening now. I have no time or energy for bitterness. It’s easier to forgive and love. My capacity for compassion and empathy has grown exponentially. I’ve met so many strong, beautiful, inspiring people also fighting chronic illness and rare disease that have affected my life profoundly and have given me the strength to carry on. Being rare has made gentle, yet strong; careful, yet uninhibited; vulnerable, yet unashamed, and I don’t regret a thing.

The dubious honor of being rare.

Follow this journey on Cortisol Musings.