Reghan’s Story: How a Turner syndrome diagnosis led to new career goal
Sixteen-year-old Reghan Dukes longed for answers. She was only 4 foot, 5 inches tall, and she had never had a menstrual cycle. Her mom was concerned, and after a few appointments with Reghan’s primary care physician, the possibility of Reghan having Turner syndrome emerged.
Turner syndrome, or TS, is a common genetic disorder that affects 1 in 2,000 females and is associated with a wide array of possible manifestations, including short stature, ovarian failure and cardiovascular disease. While it is sometimes discovered at birth, it is more commonly diagnosed during puberty or when a woman is trying to conceive.
Reghan was referred to UF Health pediatric endocrinologist Laura Jacobsen, MD, and after an initial consultation, Dr. Jacobsen was pretty certain that Reghan did have TS. She sent Reghan for blood work to test her chromosomes, which confirmed the diagnosis. The tests also revealed high blood pressure and an enlarged aortic valve, so Reghan is now also monitored by a pediatric cardiologist.
While Reghan’s life is definitely a little different with TS — she’s not able to play many sports due to her recently discovered heart issues, and she had to let go of her dream of joining the National Guard — she’s now 17 and thankful for the care she’s received at UF Health. She continues to see Dr. Jacobsen regularly for checkups.
“I love her so much. She’s my favorite doctor,” Reghan said. “When I went to see her for the first time, I was really scared. She made sure I understood everything and was comfortable. I feel like she’s my best friend, and I can talk to her about anything.”
Since starting a monthly hormone regimen, Reghan has had two menstrual cycles. While her diagnosis prevents her from having children, as it would endanger her heart, Reghan has a positive outlook on life and is grateful for her UF Health family.
Reghan credits Dr. Jacobsen and the team at UF Health for a recent change in her career goals, too.
“As a little girl, I wanted to be a veterinarian,” Reghan said. “As I’ve gotten older and have seen so many doctors, I’ve shifted from wanting to be a vet to wanting to go into nursing. Because of Dr. Jacobsen, I’m also interested in working specifically in endocrinology.”