Diseases
“I was misdiagnosed at age seven with Spondyloepiphyseal dysplasia after early signs of skeletal differences.. By age eight, I underwent a hip shelf procedure, followed by double hip replacements at 12. At 15, I had a multilevel spinal fusion, and at 38, I had a total knee replacement.
In my early 30s, I began experiencing corneal clouding that significantly impacted my vision and had me looking for more answers. My cornea specialist suggested genetic testing to determine the specific type of corneal dystrophy we had been treating. When the first round of testing came back negative for both Spondyloepiphyseal Dysplasia and Corneal Dystrophy, we laughed and moved on to a second round. During a virtual appointment with a genetic counselor, I was shocked to finally hear the words: Morquio Syndrome, or MPS IV A.
The day after my diagnosis, my research led me to the National MPS Society and the Pathways Program, where I was connected with Evelyn Fisher. It was surprising to learn that even as an adult, I needed to be seen at a children’s hospital, but I was quickly referred to the Children’s Hospital of Philadelphia. Within 30 days of meeting Evie, I started enzyme replacement therapy—ten years after it had become available. Just six months after that, I attended the Orlando MPS Conference, where I met other adults with MPS and found a sense of community I never knew I was missing.
Looking back, I know my parents and doctors did everything right with the information they had—we just didn’t have the diagnosis. I still would have needed the same orthopedic surgeries, but earlier access to enzyme replacement therapy might have made a difference in my disease progression.
To parents who are just beginning this journey: know that your strength and encouragement truly matter. Finding the right physicians and connecting with the MPS community will give you the tools, support, and knowledge to advocate for your child every step of the way. My journey has looked a bit different than most MPS kids, but I still went to college, earned a master’s degree, bought a house, and worked full time up until very recently. A diagnosis doesn’t limit your potential—it empowers you to fight for it.”
