For Carly, the journey to a Morquio Type A diagnosis began with uncertainty. As a young child, there were signs that something wasn’t quite right, and her parents embarked on a quest for answers. After a lot of testing and a few misdiagnoses, it wasn’t until Carly was around a year and a half old that a local doctor stumbled upon a small paragraph in a textbook about Morquio Type A, setting the stage for a lifelong medical journey.
When her physician, Dr. Kopis from St. Jose Hospital, could no longer practice, Carly’s journey led her to the care of Dr. William Mackenzie at Nemours Children’s Hospital, Delaware. With expertise in skeletal dysplasia, Nemours Children’s was the perfect fit for Carly, offering specialized care tailored to her needs.
“From the beginning, my parents loved the care I received at Nemours,” says Carly. “My mom immediately transitioned all of my doctors to Nemours.” Currently, Carly consults with a team of doctors at Nemours, which includes Dr. Stuart Mackenzie, whom Carly fondly refers to as Dr. Stuart. Other members of her dedicated care team at Nemours Children’s include Dr. Pizarro, Dr. Passi, Dr. Theroux, Dr. Berman, Dr. Ritz, as well as Colleen Ditro, DNP, CPNP, Tina McGreal, APRN, and many others.
Central to Carly’s care team is Colleen Ditro, a constant source of support and guidance for Carly. “You never want to have an appointment without Colleen,” says Carly. “She is the glue that holds the team together. She knows all the pre-op and post-op information. If I need a certain medication, she makes sure I have it at home. Or if I injure myself (which I happen to do a lot), she’s the first person I contact. I don’t think I’m just speaking for myself, but for a bunch of people in the Morquio and the Little People of America (LPA) community. We are all so grateful for Colleen. And Tina McGreal, too, she’s just as amazing. Both of them together are definitely the glue to the skeletal dysplasia team at Nemours if you ask me.”
Over the years, Carly has undergone many surgeries, each playing a pivotal role in her journey. Among them, her hip surgery stands out as a turning point. “The most impactful were my hip surgery. They were the game-changers. When I was about 8 years old, I was having issues with my hips. Dr. Will Mackenzie told me he was going to perform a surgery where he would build a shelf in my hips to keep them in place. At the time, I believed that meant there was going to be wood, glue, and nails inside my hip. Now, I know that’s not the case, but he always explained things in a way I could understand for my age, without making it scary. That procedure is now referred to as the ‘Morquio Surgery,’ but I think it should be called the ‘Carly Surgery.’ It made a huge difference for me. My hips are now staying in place, and I don’t have as much pain in them as I used to.”
The last surgery Carly underwent was due to stomach pain. “It was twisted and turned, and during the surgery, they found a hernia which I never knew was there! I was 26 or 27 at the time. It was discovered during my surgery and handled before I woke up. It was a traumatic experience because I had so much pain before the surgery; I thought I was having a heart attack. I called Colleen and Dr. Theroux when the pain started, and they arranged for a Nemours ambulance to bring me to the hospital. The recovery after that surgery was very difficult for me. I was very uncomfortable, but Colleen helped me through it. She has talked me off a ledge and talked me through pain countless times. The fact that she remembers so many of us and our preferences is truly amazing.”
Beyond medical expertise, it’s the personal connections that make Nemours feel like home for Carly. “My favorite memory with my care team over the years is from my last major surgery,” Carly recalls. “I had a trachea reconstruction with Dr. Pizarro. Before my parents were even given the OK to come and see me, Dr. William Mackenzie came in and checked in on me to make sure I was doing OK. He still keeps in touch with me to this day.”
“I’m in regular contact with many of my doctors at Nemours,” shares Carly. “They always want to be informed about what’s happening with my care. For instance, when I do get injured and need to make the trip from New Jersey to Delaware. Especially my anesthesiologist, Dr. Mary Theroux, who is like an angel. She ensures that everyone is comfortable under anesthesia. I know I’m one of her more challenging patients (she jokingly reminds me of that). I think I’m probably everyone’s difficult patient, lol!”
As Carly looks to the future, her bond with Nemours remains unwavering. “I hope to continue seeing my providers at Nemours until they won’t let me any longer,” Carly shares. “The knowledge that Nemours has for all these complex disorders and diagnoses, it’s unmatched.”
Today, Carly’s treatments primarily involve weekly infusions, a routine made easier by the dedicated care of Wendy Levan, her infusion nurse. She first met Wendy Levan at the hospital eight years ago. Under the guidance of her care team, Carly began receiving infusions at the IR Center at Nemours Children’s Hospital, Delaware. After a year of hospital infusions with Wendy, she transitioned to being Carly’s home infusion nurse, a role she has maintained ever since. “We accommodate each other’s schedules, vacations, and other commitments so I’ve never had another infusion nurse,” says Carly. “We don’t schedule infusions during our birthday week; that’s something we decided together. Even during the pandemic, Wendy was with me. During that time, we would meet at a hotel to administer infusions.”
For Carly, putting her medical needs first while still prioritizing fun has been crucial. “You have to live life to the fullest,” she emphasizes. “To parents of children with Morquio, I would say, don’t put your kid in a bubble. If they want to join the cheer team, let them join the cheer team. Dr. Mackenzie signed the slips for me, writing ‘no tumbling or flying.’ Can I sometimes be a rule breaker when it comes to my diagnosis? Yes. I sometimes call myself the rebel child of Morquio. But I’ve never let it hold me back from living my life to the fullest.”
Carly firmly believes in taking her diagnosis seriously, but not letting it dictate her life. “You can always find a way to be involved with whatever you’re passionate about,” she says. “I would also tell people to get involved with LPA; Colleen and Dr. Mackenzie encouraged me to, and it was a great decision.”
“And lastly,” Carly concludes, “go to Nemours, that’s where you will receive the best care.”
