February 28, 2022, is the annual Rare Disease Day, capping off a month’s worth of events and initiatives designed to empower rare disease patients and their caregivers to live better lives. Cosponsored by the National Organization for Rare Disorders (NORD), this day reminds me of how essential it is to raise awareness about the unique challenges rare disease patients face. 

It is one thing to find out that you have a chronic illness like multiple sclerosis (MS) and another to learn that it is a rare illness. When I first got my diagnosis, I was prepared to research as much as I could about this disease.

It was the first suggestion made by the emergency room healthcare providers who recognized I might have MS. I sat there alone in the exam room with my cell phone searching Google. I did not know that I would invest enormous amounts of time trying to learn more about MS.

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I have a chronic illness that can become my middle name, define who I am, and how I live my life. The relatively few clinical research articles I found meant I must delve deeper for information. One article could lead me down a rabbit hole of nothing. I have become an expert at reading between the lines. I have learned a lot about choosing the right words and search term operators. During one of my long reading sessions, I came across NORD.

For the first time, I understood why there seems to be a dearth of articles on my disease. MS is a rare illness. 

This fact came as a bit of a shock to me. I knew that MS was not particularly common. However, it was because of NORD that I learned I had a chronic illness that was not only uncommon but one that is rare. NORD had some of the information and resources I needed at the beginning of my MS journey. I lucked upon an organization that exists with “one ultimate goal: to improve the lives of individuals and families affected by rare diseases.” It is lonely when you have a rare disease. To know that there are people out there supporting patients like me is comforting.

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Although I am an introvert, I find it is always nice to be a part of a community. It can also be somewhat fulfilling to be a part of a group with a high bar for entry. I never expected MS to be that club and for my diagnosis to meet that high bar for entry. An MS diagnosis presents some challenges and I face them regularly. 

Fairly regularly I meet people who misunderstand my chronic illness. They may confuse it with some other diseases or they will conflate my MS diagnosis with a death sentence. Explaining one’s illness over and over again is taxing on the mind and spirit. I do not need to be reminded that I live with a rare disease.

Sometimes the negative responses well infiltrate my mind and potentially ruin part of the day. Being misunderstood can sap my happiness. This type of confusion can go beyond the average person. There are well-meaning professionals who simply do not have a strong grasp of MS. When that is the case, it is the patient who pays the price. 

Finding a good healthcare professional team was easy for me. I happen to live in a state (Ohio) with a relatively large population of people living with MS. Most healthcare professionals here have at least a passing familiarity with MS. This is not the case for most of my MS community. There have been times I have wanted to jump through my computer monitor or cell phone to support others living with MS. I wanted to help the many patients who were looking for a healthcare provider who was knowledgeable about MS, one who did not provide wrong advice or steer patients toward the wrong treatment. 

One of the major ways I deal with the curveball of living with MS is through advocacy. Not ironically, my passion is research. Where I found information lacking, I want it to be available for others going through the same things that I am. In the midst of the difficulties of living with a rare disease, I have found a great deal of satisfaction in my work. 

I am not my illness, although parts of my life are defined by it. It is not a contradiction to have a chronic illness and lead a joyful existence. 

My existence is joyful and MS is simply along for the ride. This is what it is like for me to have a rare disease.