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When you walk inside the Mascio family’s home, you’re greeted by family photos, toys galore, and their trusted dog, Foxy. And one motif can be found throughout the entire house: butterflies.
They are everywhere. On the walls and in the kitchen, the bathroom, and their daughter Hope’s bedroom. The 11-year-old even has clothing and jewelry embellished with the colorful insects. Hope is a “butterfly”— the nickname for a girl with Turner syndrome.
“As you can see, I have butterflies all around my room, and I’ve been obsessed with butterflies, like, all my life,” Hope says.
Hope was first diagnosed with Turner syndrome when her mother was pregnant with her, and she has been going to the UNC Turner Syndrome Clinic to receive care since she was born.
Females are typically born with two X chromosomes, but those with Turner syndrome are missing part of or an entire X chromosome. About one in every 2,500 children have the condition. There are two types: classic and mosaic. Classic Turner syndrome occurs when the X chromosome is missing or incomplete within all cells. But sometimes, the condition only affects a portion of cell lines, which intermingle to create a “mosaic.”
Turner syndrome can impact virtually every aspect of a person’s life, especially growth. The average height of an adult woman with the condition is 4 feet 8 inches. Hope is 11, and at 4 feet 2 inches she is about the height of an 8-year-old without the condition.
Turner syndrome also affects hearing, heart and neurocognitive health, puberty, and function of the ovaries. Most who have it struggle to conceive.
“Pretty much every organ system can be impacted by Turner syndrome, except maybe the lungs,” says Jennifer Law, medical director of the UNC Turner Syndrome Clinic. “It’s important that an individual with the condition is screened so we can see how it presents and make sure it’s not causing them any problems.”
Offering holistic care
For a typical patient visit, Law coordinates appointments with a team of specialists ranging from cardiology to audiology. A person with hearing loss will receive aids, while someone with heart problems will be regularly monitored by a cardiologist.
This multidisciplinary approach has earned UNC Hospitals recognition from the Turner Syndrome Global Alliance as a regional resource center. This distinction recognizes that the clinic participates in transition care from pediatric to adult clinics and engages in clinical research studies. Nine of these regional resource centers exist across the country.
Law’s research studies at the clinic focus on studying the natural history of Turner Syndrome across the lifespan including lymphedema — when the lymphatic vessels, organs, and lymph nodes fail to rid tissues of potentially infectious fluids. An understudied area of Turner syndrome, lymphedema causes infants to have extremely puffy hands and feet, so their fingernails fail to form properly.
People with Turner syndrome can also develop ptosis, or drooping of the upper eyelid, and other problems with vision. In coordination with pediatric ophthalmologists at UNC Health, Law initiated a study to determine the eye problems affecting a cohort of girls and women at the clinic.
Many of the patients she referred for additional testing had an array of eye nerve issues. Law’s study aims to examine the association between significant eye problems and hormone fluctuation in her patients.
“I just wish more people knew what Turner syndrome is,” Law says. “Improving awareness improves diagnosis, treatment development, and the daily lives of these individuals.”
The most common treatment Law offers patients is a once-a-day growth hormone injection. The clinic is also participating in the New InsiGHTS clinical trial, a research initiative testing a once-a-week injection option.
“That would be life-changing,” says Hope, who has been taking growth hormone injections every day since she was 2 years old.
Finding the silver linings
Being a girl with Turner syndrome means going to a lot of doctors’ appointments, nightly growth hormone injections, and being shorter than everyone else. But as Hope sees it, that does not mean life can’t be fun.
Visits to the Carolina clinic become an opportunity to learn about new science that most 11-year-olds never experience, and her nightly injection is a joyous time for her to make popcorn, her favorite snack, and watch a movie with her sisters.
“It makes me a lot stronger, and it makes me see the positive in everything,” Hope shares. “I wish more people knew that it doesn’t affect you much. It does make you short. And you do have to go to the doctor more. But you’re still you. You’re still someone. And it doesn’t define you.”