Glimpse into the Life of Living with a Rare Disease : Living with "Rare"

 Living with "Rare"

A blog devoted to navigating and analyzing life with 
Rare and Complex Disorders.

Glimpse into the Life of Living with a Rare Disease

by RNE submissions on 03/31/17

 By Joanna Mechlinski


Having a rare disease is hard work. There’s the obvious burden of the actual symptoms, of course. But there’s also the unexpected angle of becoming an unofficial ambassador for your disease. When I was first diagnosed with polymyositis, an autoimmune disease that causes atrophy of the proximal muscles, I had never heard of it myself. Given the fact that it only affects about 1 out of 100,000, that was hardly surprising. So it stood to reason that my family and friends hadn’t, either. But of course, unlike them, it was something I was forced to learn about, and in a hurry.

That’s why it’s so important to use all the internet resources available to us. As I have said to numerous friends, if I had to have a life-altering illness, I am so very thankful that it’s during the 21st century. Not only do you have easy access to all sorts of medical information, from hospitals to prescription side effects, but you can also connect with other people in similar situations. Even fifty years ago, the odds of meeting more than a couple of those “1 out of 100,000” others diagnosed with polymyositis would have been slim. But today, thanks to social media, blogs, forums and more, you can share information with people around the world.

A small wave of anxiety washes over me whenever I step foot out of my own home. Even if it’s a beautiful sunny day to the rest of the world, my personal landscape is covered with invisible snow piles and sheets of ice. Normally, it would take just a few moments to walk from my front door to the car, but with the added obstacles it takes considerably longer. Gingerly, I keep placing one foot in front of the other; taking one careful step at a time, praying all the while that I won’t stumble.  If I do fall, I lack the muscle strength to right myself unassisted.

Very few people could truly understand what it’s like to live this way, every day, for decades. Even more disheartening, I look perfectly average at a glance. As many people with various rare diseases know all too well, it’s truly frustrating to make others fully comprehend your struggles when they are largely invisible to them. For some reason, if you walk with a cane or use a wheelchair, society at large seems to accept the fact that you might need some help. But if it’s hidden inside? Then you’re fine, of course; or, at best, you might have a few struggles, but certainly you’re exaggerating their extent.

Sure, I get upset whenever I encounter this sort of thing. Who wouldn't? But again, that's where I turn to the internet. I can vent with my rare disease friends, I can search the news to see if any new developments are in the works. And - the most important part of the cyber world to me - is that anyone can help spread awareness. Just because there aren't many Google hits about your particular rare disease doesn't mean it has to stay that way! Your voice is so important and necessary in helping educate others. Tell your story...all of us have a story that is worth telling. Who knows? Maybe some small detail you share will resound deep within another person's soul, giving them the emotional support they need to keep moving forward. Or maybe it will be the one clue that helps a doctor or researcher finally put the pieces together to develop a life-altering new treatment or medication.

Above all, take heart in the endless possibilities the internet holds and represents for rare disease.

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A lifelong Connecticut resident, Joanna Mechlinski is a former newspaper reporter who now works in education. She was diagnosed with lupus, fibromyalgia and polymyositis in her early twenties. In addition to helping spread rare and chronic illness awareness, Joanna is also passionate about animal advocacy, reading, writing, and road trips.

 Mary-Frances Garber is a licensed genetic counselor, providing supportive counseling for families in search of a diagnosis, a listening ear for those receiving a new diagnosis and decision-making counseling for individuals or couples facing choices regarding having another child . She also is available for bereavement counseling. Patients are seen in a private office setting in Needham, Massachusetts.
Listening, Reflecting, HealingSupportive Genetic Counseling 
Find more info here.
Meet our blog writers!
Jenna Anne
  I write to you as a wife and mother of 4 children. Three daughters and a medically complex son. I live in New England and have a love of fiber arts, music, and most importantly advocating for my children. My background is in Early Childhood Education and Music Education, I have no medical background aside from what I have had to learn on this medical journey. My writing is not statistic based, it’s not guidelines or resources but rather I bring a perspective from the human experience. Often in this world of medical complexity we focus specifically on the patient and the diagnosis and treatments, my writings offer the community a different perspective on how the day to day events are affected by medical interventions. The impact it has on siblings and family. The perseverance it takes to keep a wholesome family continuously adapting and thriving amidst all the challenges of medical complexity. My writings are often raw and unapologetic and speak to the human experience behind the policy, coding and diagnostics of modern medicine.  

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