Eddie has been a patient at Nemours Children’s Hospital, Delaware since he was just 2½ years old. Now 21, he’s spent nearly two decades navigating Morquio A syndrome and making trips to Delaware from Wisconsin to receive the care he needs.
His journey began when his parents noticed developmental differences. “I was 2 years old, and my mom started worrying about my chest bone because it looked abnormal,” shares Eddie. For the next nine months, his family saw many different doctors to seek answers. Finally, they discovered a doctor who immediately recognized his symptoms and diagnosed Eddie with Morquio, and recommended they see Dr. William Mackenzie at Nemours Children’s.
Morquio A syndrome (also known as mucopolysaccharidosis IVA or MPS IVA) is one of a group of disorders called mucopolysaccharidosis (MPS). In MPS, there’s either not enough of the enzyme that breaks down a type of sugar called glycosaminoglycans (or mucopolysaccharides) or none at all. The sugar builds up and leads to vision, hearing, bone, brain, and heart problems.
Throughout his life, Eddie has been cared for by a multidisciplinary team at Nemours Children’s including Drs. Stuart Mackenzie, Colleen Ditro, DNP, CPNP, Dr. Jeff Campbell, and Dr. Karen Turner. “I have always felt like family at Nemours and it makes it a lot easier to make the trip out and go through what I have to go through,” shares Eddie. Since starting care at Nemours, Eddie has received 22 surgeries, including spinal fusions, knee surgeries, hip surgeries, and weekly infusions of Vimizim. The coordinated approach from his care team has helped him to manage his symptoms and reach his goals.
“I don’t remember a time when I didn’t go to Nemours,” says Eddie. “Morquio has impacted my life daily. from not being able to do certain things that my friends do to not being able to reach certain things. But my family, friends, and doctors have helped me tremendously so that I can reach my full potential.”
Now a young adult, Eddie is focused on the future of his care. “I plan to keep going to Nemours for as long as I can, then go wherever Dr. Mackenzie and Colleen recommends,” says Eddie. “You need to just do what the doctors and nurses tell you. Even though it can be tedious and painful, they know what they are doing, and it is the best way for the patient to get better.”
To other patients facing rare conditions, Eddie offers this advice, “No matter how far away you are from Delaware, just go to Nemours. They take the best care of you and know exactly what to do and when they need to do it. I would not be here or in this position if it weren’t for Nemours.”
