My name is Katie Wilson, and I am a 31-year-old woman living with a rare, currently unidentified form of muscular dystrophy. I first noticed symptoms at 18, and by 22 I was experiencing significant weakness, falls, and increasing difficulty with everyday movements. For years, doctors dismissed my concerns. I went through countless tests—EMGs, nerve conduction studies, biopsies—and endured several misdiagnoses, including LGMD, Becker, Duchenne, and even polymyositis, which led to unnecessary high-dose steroids and lasting side effects.

After years of searching, I was eventually referred to the Mayo Clinic, where I finally felt listened to. They discovered that my genetic mutation has not yet been identified and told me that “science hasn’t caught up yet.” While I was grateful to finally be taken seriously, I also felt stuck.

But I wasn’t willing to wait.

I continued searching for answers and eventually reached out to a doctor at Boston Children’s Hospital, whose expertise in undiagnosed neuromuscular disease offered renewed hope. I am now beginning the process of working with her team to pursue deeper testing, research options, and a clearer diagnostic path.

Today, as I transition into using a wheelchair more regularly, I’m reclaiming my voice through advocacy. I’m studying for my degree in psychology with the end goal of becoming a rehabilitation counselor and connecting with others in the rare disease and disability communities. I want to ensure no one is dismissed or left in diagnostic limbo the way I was. My journey is still unfolding, but I’m finally moving toward answers and toward a future where patients like me are heard, supported, and empowered.
 

My Motivation

I’m motivated to share my story because I know how isolating, confusing, and expensive life with a rare disease can be. I’ve experienced firsthand how easily patients can fall through the cracks, how long diagnosis can take, how draining medical uncertainty becomes, and how few resources exist for mobility equipment, mental health support, and navigating everyday life with a progressive condition.

I want to raise awareness for people living with neuromuscular disorders, especially those with undiagnosed or ultra-rare forms of disease. My goal is to make sure that no one has to fight alone the way I did. I’m driven by a desire to improve access to care, advocate for earlier testing and better diagnostic pathways, and push for policies that support disabled individuals and families financially, emotionally, and medically.