Turner Syndrome Second Opinion: Carlin’s Story

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Carlin is a verbally gifted child, with a special love of science and a talent for drawing. Now 12, she was diagnosed with Turner syndrome (TS) when she was 3. Through comprehensive care and a network of support and training, she is leading a happy, healthy life.

Carlin with her birthday cake Carlin was a small baby, under 6 pounds at birth, and she stayed small through her first years, dropping farther and farther down the growth chart. At 2, she was still wearing 6- to 9-month baby clothes.

Turner syndrome diagnosis

When Carlin was 3, her pediatrician suggested her mother, Lorianna, take her to a gastroenterology (GI) specialist to see if there was anything wrong with her ability to absorb nutrients from food. The GI specialist examined her and took blood samples for testing. She found no GI issues, but from her size and from irregularities in her dentition (arrangement of teeth), she suspected she might have Turner syndrome.

Turner syndrome is a chromosomal disorder in girls that is associated with short stature. Turner syndrome is also associated with other health problems, including heart and kidney abnormalities, as well as hearing and learning problems.

When the results of the blood tests came back, they confirmed Carlin had Turner syndrome. Her pediatrician referred the family to another medical center for further testing. Ultrasound imaging showed her heart and kidneys were fine.

“It was all new to me,” remembers Lorianna. “I focused on learning more about Turner syndrome and how I could help her.” She brought Carlin to an endocrinologist, who explained that she could be treated with growth hormone therapy. But she held off, concerned about how else the hormones might affect her.

A second opinion at CHOP

“As I told friends and family about it,” says Lorianna, “people kept telling me I should get a second opinion at CHOP” (Children’s Hospital of Philadelphia). So, she made an appointment with CHOP’s Turner Syndrome Program when Carlin was 5.

In their first appointment, they met with Vaneeta Bamba, MD, a pediatric endocrinologist who is Director of the Turner Syndrome Program, and with Denise Gruccio, DNP, CRNP, PNP-BC, a nurse practitioner in the Program.

“It was a long visit,” says Lorianna. “They took the time to talk to Carlin and get to know her. I expressed my concerns with growth hormone therapy and they listened. Denise was very clear about which side effects were of more concern than others and why, which put my mind at ease. Instead of dismissing my hesitation with the hormone therapy, she said something I will always remember. She told me, ‘Carlin’s personality will get her so much further in life than a few more inches.’ I went home and immediately started getting all of Carlin’s records transferred to CHOP.”

Responding well to treatment

Over the next year, Lorianna learned more and more about growth hormone therapy, enough so that she started Carlin on the treatment without reservations. She has responded well. Before starting the treatment, she was well below the bottom of the standard growth chart, and in the 20 to 30 percent range on the Turner syndrome growth chart. Now she is in the 95th percentile on the Turner syndrome growth chart and in the 5th percentile on the standard growth chart.

In addition to treatment with growth hormone therapy, Carlin has been treated for chronic ear infections and hearing problems by Brian Dunham, MD, an attending surgeon in the Division of Otolaryngology (ENT) at CHOP. She’s on her second set of ear tubes, and had her adenoids removed. These problems are also related to Turner syndrome.

A smart, articulate, and funny child

Carlin is 12 now. She’s a smart, articulate and funny child, with special passions for science and drawing. She reads several grade levels above her age and writes and illustrates her own stories. She sometimes struggles with social cues, an effect of Turner syndrome, but has been helped with social skills classes. Nothing holds her back. In fact, she’s very social (“a social butterfly,” says Lorianna).

Carlin comes to CHOP every three months for examination, and she usually gets blood work at those appointments. As she enters adolescence, additional hormone therapy (estrogen) may be required to jump start puberty.

“There’s a very delicate balance in deciding when to introduce estrogen. I have complete and total faith in Denise in managing Carlin’s treatment,” says Lorianna. “She is incredibly thorough and incredibly caring."

There is no doubt in my mind that Carlin is in the right place.

Update: February 2020

female patient with turner's syndrome sitting in front of window smiling Carlin is preparing to start high school next year and has been growing her circle of friends as she matures. She is working with an in-home therapist once a week, who helps her break tasks down into smaller pieces to manage emotions, understand boundaries and control impulses. A neuropsychological evaluation from CHOP provided her school with a report on how Carlin may best learn.  Carlin's amazing memory helps her mind absorb information like a sponge and she particularly likes science. She enjoys drawing, writing, and reading in her current 8th grade class.

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