Key Takeaways
- Living with a rare disease and facing a life-changing injury creates unique challenges.
- After a slip, the author underwent surgery, complicating their recovery due to Duchenne muscular dystrophy.
- Adjusting to new routines post-surgery required significant support from family and friends.
- The journey highlights the importance of community and patient perspectives in healthcare.
- Every patient story provides valuable insights that can improve healthcare experiences and support systems.
Living with a rare disease is a challenge. Experiencing a life changing injury is a challenge. Experiencing both was life-altering.
When One Diagnosis Becomes Two Life-Changing Challenges
I was walking to the bathroom when I noticed a wet spot on the floor. I tried to step around it, but I slipped. My leg twisted and I immediately knew something was wrong. My mom tried to adjust it, but the pain was unbearable—I was in tears.
I lay there for a while, trying to figure out what to do, but I couldn’t think clearly. We ended up calling an ambulance. They lifted me onto a stretcher with a blanket, and the ride to the hospital felt both slow and fast at the same time. I even recognized one of the firefighters from a Muscular Dystrophy Association (MDA) “Fill the Boot” event.
At the hospital, I didn’t have a room right away, so I stayed in the hallway. They offered pain medication, but I said no. After about three hours, they took me for an X-ray. It was painful because of how my leg was positioned.
When the doctor saw the X-ray, he explained the break. I started crying because I knew what this injury meant—I wasn’t going to walk again, especially since I live with a rare disease called Duchenne muscular dystrophy (DMD). After that, they gave me pain medication, and things became a bit of a blur. I was moved to a room for the night, with surgery planned for the morning.
A Rare Disease Complicates an Already Difficult Situation
The next day, everything changed again.
The surgeon didn’t feel it was safe to operate on my injury because of my rare disease.
We didn’t know what to do next—until we were told that ThedaCare in nearby Appleton, WI could perform the surgery. So, I took another ambulance ride, this time alone, while my mom followed behind.
Facing Surgery and an Uncertain Future
When we arrived, they were ready. They did a CT scan and got me settled before surgery. I wasn’t ready, but soon I was under anesthesia. When I woke up, I was on my BiPAP. After a while, they removed it, and I was fully awake. My leg felt better than before, but it was still very sore.
Adjusting to a New Reality After Surgery
The surgeon had inserted a rod with four screws, meaning that I wouldn’t be able to walk again.
I spent the first night in the ICU alone, since my mom wasn’t allowed to stay overnight. It was tough, and I had to ask for help with everything, even going to the bathroom. The next morning, my family came to visit. Later, I was moved to a regular room, where I stayed for a few days to heal and begin physical therapy.
The Physical and Emotional Challenges of Recovery
Those days were challenging. Because of my rare disease and the severity of my injury and recovery, I had to adjust to needing help with everything, including using a bedpan, which was especially difficult. I couldn’t get into my wheelchair yet. After a few days, I was transferred to an inpatient rehab, where I stayed for about two weeks.
Slowly, things became a little easier. I learned how to use a commode, had help showering, and was able to sit in my chair for short periods. My days were filled with therapy, working to stand and regain strength—but unfortunately that didn’t happen.
Finding Strength Through Friends and Community
Although it was an extremely challenging period, some bright moments stood out during that time. Friends came to visit, including my camp counselors from MDA camp, Maria and Matt. Seeing them meant so much and went a long way to brighten my spirits.
Returning Home and Learning New Routines
After a long hospital stay, I was finally discharged. Soon after, we traveled to Iowa for my clinical trial visit. Things went well, but we had to adjust to new routines—using a Hoyer lift, a commode, and a urinal every time I needed to use the bathroom.
At home, we had to adapt a lot—especially the bathroom and hallways—to make things accessible. Even though everything had changed, we kept a positive mindset.
Gratitude for the Support System That Made Recovery Possible
Today, I rely on my family and friends for daily tasks like getting into bed, using the bathroom, and getting around. I’m incredibly grateful for everyone who has supported me through this—especially my mom. I’ll never be able to thank her enough for everything she’s done and continues to do.
Looking at my life now, I feel thankful to have such a strong, loving support system that’s always there when I need it.
Every Patient Story Reveals Insights That Data Alone Cannot
Behind every diagnosis is a unique journey shaped by challenges, resilience, caregivers, healthcare experiences, and everyday realities that are rarely captured in clinical data alone.
Stories like this highlight why patient perspectives matter throughout healthcare and clinical research. When organizations take the time to understand lived experience, they gain insights that can help improve study design, patient support programs, educational initiatives, and engagement strategies.
PAS helps sponsors and healthcare organizations better understand the communities they serve by incorporating authentic patient voices into decision-making.
Learn how PAS can help your team incorporate patient perspectives into research, engagement, and patient-centered program development.
