The Ups and Downs of Simon’s first trip to Nemours

Early in Simon’s journey with Morquio syndrome, we learned that the global hub for research and orthopedic treatment is at Nemours Children’s Hospital in Wilmington, Delaware. From Dr. Shunji Tomatsu – one of only a handful of researchers worldwide who is studying genetic and biochemical therapies for patients with Morquio A – to Drs. William and Stuart Mackenzie – a father son duo of pediatric orthopedic surgeons with a specialization in patients with dwarfism, including treating patients with Morquio. For years we wondered if it would be worth the trip to Delaware to learn from this team of global experts.

In March 2023, we were so grateful to be able to get Simon enrolled as a patient in a natural history study of Morquio A patients funded by the US National Institutes of Health through Dr. Tomatsu’s lab. With nearly 60 patients enrolled, the study will measure the progression of the disease over 5 years with week-long visits to Nemours every 18 months.