patient-story article 2020-02-14 massgeneral-hospital-for-children womens-health;pediatric-care
Turner Syndrome
Patient StoryFeb | 14 | 2020
Caitlin's story: One chromosome late to the party, but centralized care helps young woman be fearlessly present in life
Caitlin Sullivan, 23, at Rye Beach in Rye, NH. Photo courtesy of the Sullivan family.
Around age 7, Caitlin Sullivan realized she was different. During a sleepover, she realized her friends did not need the nightly growth hormone injections that were so normal and routine to her. Naturally, Caitlin inquired about the mystery with her parents.
"We call it the 'Coming to the Party' story. Before I was born, my chromosomes threw a party and not every chromosome showed up," said Caitlin, now 23. Before she was born, her parents, Sarah and Dan, of Norwood, Mass., learned their daughter had Turner syndrome (TS), a genetic condition in which girls and women are missing part of or all the second sex chromosome. The missing chromosome prevents the female body from growing and developing in a typical way. It is not uncommon for girls and women with TS to have learning disabilities, trouble with social skills, heart problems and various distinct physical features, including low-set ears, short stature or a hairline that is set low on the head.
A fearless leader by nature, Caitlin never let her diagnosis get in the way of her dreams. Throughout high school, she earned good grades and by senior year, she was the captain of her school's swim team. She pursued a career in nursing at St. Anselm College and graduated in May 2019. Caitlin Sullivan, BSN, RN, is now a nurse at a rehabilitation facility in Roslindale, Mass.
"I use Turner syndrome as a driving force to be the best nurse and the best person I could be," said Caitlin. "I never used it as an excuse. I am lucky in that I can be independent and hold a job that I enjoy."
As Caitlin grew up, her parents aimed to foster that sense of independence, especially with her medical care. It is not unusual for people with TS to see a multitude of specialists. It can be difficult to find doctors' offices close together, let alone doctors who are familiar with the rare disorder. In their search for answers, Sarah and Caitlin found the Turner Syndrome Clinic at MassGeneral Hospital for Children (MGHfC) and Massachusetts General Hospital, where all Caitlin's specialists are not only under one roof, but are also well attuned to the needs of patients with TS.
"The Turner Syndrome Clinic is an invaluable resource and as a parent, I wanted Caitlin to go somewhere she could easily transition from pediatric to adult care," said Sarah, who also serves in a leadership role on the Turner Syndrome Society of the United States. "Dr. Lin and her team have a personal investment in Turner syndrome and that is their best asset."
Caitlin Sullivan, pictured with her mother, Sarah, earned her nursing degree in May 2019. Photo courtesy of the Sullivan family.
When Angela Lin, MD, co-director of the MGH Turner Syndrome Clinic is seeing individuals with Turner syndrome, that personal investment comes to life by developing a close relationship with each patient and family.
"I like to talk about the gifts of Turner syndrome, which are kindness, sensitivity and usually, the type of lovely personality that Caitlin has," said Lin. "Turner syndrome has its challenges, but it's important to celebrate all aspects of what life can be. Caitlin understands the whole spectrum of what it's like to live with Turner syndrome, and she embraces the joys and the challenges. All of my patients teach me far more than what a provider can read."
Because Turner syndrome is rare, Lin also takes special care to introduce families with TS to one another – a connection that many patients and families find priceless. "It is so nice to connect with other families. The clinic is a lifeline for us," said Sarah. "It gives me peace and creating those connections speaks to the care beyond what the clinic provides."
Turner Syndrome Clinic
Patient resources for the Turner Syndrome Clinic
Aug | 13 | 2018
Turner syndrome is a genetic condition that affects women and girls of all ages. Learn the signs of Turner syndrome and the challenges that come with the disorder.
Jul | 8 | 2019
The basics about mosaic Turner syndrome
Learn about mosaic Turner syndrome (TS), a genetic condition that affects growth and development in women and girls.
Sep | 4 | 2019
Heart and aorta imaging: What to expect
You or your child has been asked to have testing to image (make pictures of) the heart and/or aorta (or both). Learn what to expect from the different types of imaging tests.
Your first appointment at the Turner Syndrome Clinic
Welcome to the Turner Syndrome Clinic at MassGeneral Hospital for Children (MGHfC) and Massachusetts General Hospital! Learn what to expect and how to prepare before your first appointment.
Jun | 7 | 2017
El Síndrome de Turner
El síndrome de Turner es una alteración genética que afecta a niñas y a mujeres de todas edades. Esta hoja informativa explica en qué consiste el síndrome de Turner, sus características, y los retos asociados con ella.