Colleen’s Story: World FSHD Day Stories

Looking back, the signs were there long before I had a diagnosis.

As a child, I had a curved posture, winging shoulder blades, high arches, and slept with my eyes slightly open. I was constantly told to stand up straight. I could never blow up a balloon. People noticed things that seemed unusual, but no one knew they were connected. For years, I was told I simply had a weak core, poor posture, or needed physical therapy. I believed that too.

After having my boys, things became harder. Walking became difficult. Standing for long periods caused pain. Simple tasks like carrying my children or getting dressed became exhausting. As someone who had been active my entire life, running track, playing basketball, and volleyball, I knew something wasn’t right.

What followed was a long journey of appointments, MRIs, specialists, blood work, EMGs, nerve studies, genetic testing, and even a muscle biopsy. Again and again, I was told that something was wrong, but no one could tell me what it was. There were moments when I wanted to give up. Moments of frustration, fear, tears, and feeling completely defeated. But I kept pushing for answers.

After nearly ten years of searching and really, a lifetime of wondering why my body worked differently… I finally received a diagnosis: Facioscapulohumeral Muscular Dystrophy (FSHD). Suddenly, everything made sense. The diagnosis explained the scapular winging, the curved spine, the facial weakness, the chronic fatigue, the pain, the difficulty walking, the falls, the breathing challenges, and so many things I had experienced my entire life.

When I was diagnosed, I was told there was no cure and no approved treatment. It felt overwhelming, but I refused to let FSHD define my future.

Over the last few years, I’ve connected with an incredible community of patients, families, researchers, and advocates. I’ve attended conferences, raised thousands of dollars through the Walk to Cure FSHD, and learned that hope is powerful. Then came a milestone I never thought possible.

In August 2025, after multiple attempts to qualify for a drug trial, I was officially accepted into a Phase 3 clinical trial for a potential FSHD treatment. Out of approximately 200 participants worldwide, I was incredibly grateful to be one of them. The study is evaluating a potential treatment called del-brax to determine whether it can improve strength and mobility in people living with FSHD.

Every six weeks, I travel to Gainesville for infusions, knowing that I may be receiving the medication or a placebo but also knowing that I am contributing to something much bigger than myself. When I first received my diagnosis, there was very little hope beyond symptom management. Today, there are clinical trials, dedicated researchers, and real progress being made.

FSHD is still part of my story, but it does not define who I am.

I am a wife, a mother, a business owner, a speech pathologist/behavior analyst, and an advocate. I have experienced embarrassment, frustration, sadness, and anger along this journey. But I have also found strength, purpose, and a community that reminds me I am not alone.

Four years after diagnosis, I continue to move forward with hope, gratitude, and determination. For myself. For my children. For everyone living with FSHD. Progress may feel slow some days, but it’s happening. And for the first time in a very long time, the future feels brighter. 💪🧡