By Kelsey Pusillo, WD patient and WDA Patient Ambassador Coordinator

Early Symptoms and a Life-Changing Diagnosis

During my high school graduation, I was sick with what was initially thought to be mono. Later, I would learn it was actually the onset of my Wilson disease. Just three weeks into my freshman year of college, my health rapidly declined. I began passing out, developed jaundice, and ultimately went into liver failure.

After a month in the hospital, I was finally diagnosed with both Wilson disease and hemochromatosis. At the time, I was a musical theatre major, but the severity of my health challenges and the steroids I needed to stabilize my blood levels altered my vocal cords. Everything I had known and worked toward was suddenly turned upside down.

A Sudden Disruption of Plans and Identity

I tried to continue living a “normal” life, but I quickly realized there is nothing normal about living with a rare disease. While I thought I would be focused on school and the freedom that comes with being 18, I instead found myself attending constant medical appointments and sitting in on clinic visits about liver transplants. The experience took a significant toll on my mental health, and I ultimately stepped back to find my way again.

Adjusting to Life With a Rare Disease

Since then, life has been a series of ups, downs, and pivots. There have been times when I’ve felt healthy and strong, and other times when I’ve felt the weight of side effects and elevated health scores. While I was once angry about my diagnosis, I now reflect on the unexpected blessings that have come from this journey. I met my husband, welcomed my two miracle children, and put down roots in Colorado.

Finding Stability Through Life’s Ups and Downs

I also began taking control of my health, learning to cook, and exploring different approaches to wellness. Ultimately, I earned my certification in Integrative Health Coaching in hopes of supporting others on their health journeys as I continued to navigate my own.

As I’ve grown older and gained more experience living with Wilson disease, I’ve found peace and hope through knowledge and community. I joined the registry, helped host multiple walks, and connected with incredible individuals and medical professionals along the way. While every story is different, being able to share experiences and connect with others who truly understand has been an essential part of healing.

Turning Experience Into Purpose and Advocacy

When the opportunity arose to join the Wilson Disease Association (WDA) as the Patient Ambassador Coordinator, I didn’t hesitate. It felt like a meaningful way to give back and provide the kind of support I wish I had when I was first diagnosed.

Building Connection Through the Wilson Disease Ambassador Program

I am especially excited to work alongside fellow Wilson warrior Ginta Ginaityte, WDA Patient Assistance and MAP Coordinator, to build the Wilson Disease Ambassador Program. Living with a rare disease can be incredibly isolating, and our goal is to create a safe, supportive space where patients and caregivers can be paired with dedicated volunteers who share similar experiences, whether they are living with Wilson disease themselves or caring for someone who is living with the disease.

The Wilson Disease Ambassador Program is designed to provide guidance, information, and connection for individuals at every stage, whether they are newly diagnosed or longtime patients and caregivers. As the program grows, we hope to continue educating, engaging, and creating meaningful, healing connections within the community. Living with a rare disease can feel lonely, but the WDA is a global community of individuals, including myself, who understand the profound impact this condition can have on you and those around you. You are not alone.

If you are interested in becoming an ambassador or would like to be paired with one, please reach out to WDAmbassador@wilsonsdisease.org. We would love to connect with you and share more about the program.