18-year-old Chloe is preparing for her next chapter while continuing to manage a rare skeletal dysplasia with the support of her care team at Nemours Children’s Hospital, Delaware. Her medical journey began early, and has been shaped by expert care, community, and a team that understands her unique needs.
During her mother, Cynthia’s, pregnancy, an ultrasound revealed that Chloe would be born with a form of dwarfism. These early signs prompted close monitoring and additional testing after birth.
It wasn’t until she was about 1.5 years old that Chloe underwent genetic testing, confirming a spondyloepiphyseal dysplasia (SED) diagnosis. SEDs are disorders that involve both the spine and the ends of long bones. Patients with SED often experience musculoskeletal problems with the neck, spine, lower limbs, feet, and joints.
As her family navigated the early stages of her diagnosis, they connected with Little People of America (LPA). While attending an LPA regional conference, they met the Nemours Children’s team. “We were able to get answers and guidance from them,” shares Cynthia.
Since this connection through the LPA community, Chloe has received care from a team of specialists at Nemours Children’s who have a deep understanding of the unique challenges associated with SED. Her care team has included Dr. Stuart Mackenzie, Dr. Ricki Carroll, Colleen Ditro, DNP, CPNP, Sarah Little, PA-C, Karen Turner, PT, and Angela Duker, MS, CGC. Over the years, she has undergone several surgeries to address orthopedic concerns and comes for routine follow-ups to support her well-being. “They are very specialized in what they do and make you feel comfortable,” shares Chloe. “They always try to understand my perspective and they really care. Anytime I have problems or questions, they always respond or follow-up. I will stay with Nemours for as long as I am able to be a patient there.”
Today, Chloe is focused on her future. “I will be graduating high school this month and attending college in the fall to major in communications with a minor in health sciences,” she shares. “I also would like to pursue a career in acting/entertainment.” With the continued support of her family and care team, she’s building a life centered on long-term health. Nemours Children’s is world-renowned for diagnosing and treating skeletal dysplasias, including all types of SED, and provides personalized, expert care to help children live life to the fullest. Chloe’s story is one example of how community and trusted providers can make a lasting impact.
