Stories

Positively Rare, Positively Beautiful

March 21, 2025

By Erin Paterson

When I first learned I was at risk for Huntington’s disease I did what many of us do, I turned to the internet for answers. At the time the only things I could find online were scary videos of people with uncontrollable chorea in the advanced stages of HD, and websites with clinical descriptions of the disease. Reading over the text I thought to myself. What does it even mean to have cognitive issues? How exactly does HD impact your everyday life?

I didn’t have anyone to turn to. HD was new to me and my family so we were not a part of the HD community. Trying to decide if I wanted to go through genetic testing to find out if I had inherited the disease was an extremely difficult decision but at the same time it almost felt like a theoretical exercise. Looking back on it I didn’t fully understand the enormity of the decision I was making.

Within the year I had gone through genetic testing and  found out I am gene positive for HD. This means that it is 100 % certain that I will develop the disease at some point in my life I just don’t know when. After getting my test results I fell into a deep depression that lasted for years. I wondered if my life had value if I was going to become a burden to others. I lost my self esteem and  I struggled to figure out how I fit into the world. I questioned the validity of my emotions and thought to myself why am I so depressed if I don’t even have the disease yet? Eventually I would learn that I was grieving the future I thought I would have.

It took me about ten years to get my life back on track. During that time I slowly became a part of the HD community. One of the things that I came to learn was that we were so lucky because we have multiple HD organization across the world that are there to support us and the community has a strong sense of togetherness. I know this is not the case for all rare disease communities.

I have met so many parents who had no where to turn when their child was diagnosed with a rare disease that they ended up banding together with some other parents to create a foundation to try and get their kids the help they need. I have met people who have had a medical crisis and ended up in the emergency department only to have to educate the doctor about their rare disease in the midst of it. I have spoken to people who have a disease that is so rare they have never met another person living with it. I understand what it is like to feel isolated and alone and I knew I wanted to do my part to help create community and bring awareness to rare diseases. So I started curating books filled with stories written by people from the rare disease community.

I gather people together who have a desire to share their experiences with others. In most cases they have never shared their story publicly before. I work one on one with them and help them craft an impactful story that will inspire others. The amazing thing about working on these books is that I get to met so many outstanding people. The one thing they all have in common is a desire to help others. It is so wonderful to be surrounded by people who want to share their knowledge so that others don’t have to suffer the way they did, or so that someone else’s  journey can be a little bit easier then theirs, or so that they can provide hope to others.

the book cover of Positively RareMy latest book has stories from people like Jen, a nurse who was diagnosed with Pulmonary Hypertension at the height of her career who shares how difficult it was to go from being the one that cared for other people, to being the one that is cared for. To Jenny who was living with PTSD from medical procedures performed on her as a child, who had to figure out what joy is and how to find it in her life again. And Laura, a young mom who’s son was diagnosed with Polymicrogyria who had to confront her ableist views about his life and come to learn the true gifts of parenting a child with a rare disease.

By sharing their stories with such openness and vulnerability they are providing that beacon of light for others in the rare disease community and that truly is a beautiful thing.

As Jen says so succinctly in her chapter, “Together we can foster a supportive community that uplifts and encourages one another, always with an eye towards a brighter, more hopeful horizon.”

You can read the rare disease stories mentioned here and more in the book Positively Rare available here.

 

 

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