Rare Disease Day

I am Melissa, an intern here at Moving Forward Family Services. I thought I would share a little about myself in light of Rare Disease Day, February 29th. Rare diseases are classified as diseases that affect fewer than 1 in 2000 people.

In 2023, at 39 years old, I was diagnosed with Birdshot Chorioretinopathy, a chronic, bilateral, posterior uveitis that affects less than 1 in 100,000 people. In short, I have a rare eye disease that causes inflammation of the retina in both eyes. It was discovered through a routine eye exam and confirmed through genetic testing. Birdshot is strongly associated with the HLA-A29 gene. Although I had few visual disturbances at the time, the weight of the diagnosis was immense.

I wanted to read everything I could about the disease. With that came the realization that I would likely lose my vision, either entirely or partially at some point in my life. This instantly sent me into a spiral of anxiety. These negative thought patterns became overwhelming and encompassing. I could not stop thinking about the milestones I may not physically see in my kids' lives. This catastrophic thinking led me to destructive thoughts such as, "If I lost my vision in ten years, I wouldn’t see my daughter graduate high school,” for example.

Fortunately, I have a therapist who encouraged me to find others who have this disease and connect with them. As someone who is fiercely independent and private, the idea of joining a group was almost as terrifying as going blind! I didn’t know the power of having a circle of people who have shared the same lived experiences. I found a Facebook group for people in North America with this disease. That was my starting point. Through this group, I found Birdshot Uveitis Society of North America (BUSNA), a nonprofit organization for people with Birdshot. One of the board members listed on the website is originally from Newfoundland, and so am I! That was my springboard to make a connection. I reached out to her, and then she put me in touch with some other Canadians. Before I knew it, I had a handful of new friends who knew exactly what I was going through.

One of the biggest things I had to learn this past year was to trust. Brené Brown defines trust as “choosing to risk making something you value vulnerable to another person’s actions.” It’s a big leap, to take something as valuable as your vision and leave it in the hands of someone else. I am learning to trust that my doctors will help me preserve my vision for as long as possible. And I am becoming someone who appreciates having a group to lean on as I face uncertainties.

As we recognize Rare Disease Day on February 29th, may we also recognize the personal growth and resilience one experiences when working through challenges.

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