Emma’s Journey with Turner Syndrome: From Uncertainty to Advocacy
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As a mom of two, Claudia felt prepared heading into labor for a third time and assumed that she knew what to expect.
When her doctor called for a pediatrician immediately after delivery, she and her husband were shocked to learn that their youngest daughter, Emma, was showing characteristics of Turner syndrome (TS) – a genetic disorder caused by an abnormality of the X chromosome.
Ten days after birth, a genetic test confirmed the diagnosis and suddenly something that the Arroyos had no knowledge of prior to December 28, 2011, became the focus of their entire world.
As Turner syndrome was never suspected during her pregnancy, Claudia felt blindsided by the news. “The first thing you do is Google it,” she recalls. And what she found initially startled her; she realized she had a long road ahead of learning and understanding how to best care for Emma.
Turner syndrome affects girls and occurs ~1 in 2,500 live births. While each case is unique, girls with TS often present with a combination of symptoms and characteristics such as short stature, heart and hearing problems, neck webbing, learning difficulties, delayed puberty, and reduced fertility. People with Turner syndrome can also be at a higher risk of developing several other health concerns such as thyroid disease, celiac disease, and diabetes, among others.
While a few discouraging experiences marked the beginning of the Arroyo’s journey, it eventually led them to Lurie Children’s where Claudia says Emma has been thoughtfully cared for by doctors like Reema L. Habiby, MD, Interim Division Head, Endocrinology, Kathleen R. Billings, MD, FACS, FAAP, Attending Physician, Otorhinolaryngology-Head & Neck Surgery, and Naomi R. Fogel, MD, Attending Physician, Endocrinology, for the last nine years. “Lurie has been wonderful,” she says. “Emma’s routine bloodwork every four months is a struggle, but their care and patience always make it easier.”
Dr. Habiby is also co-director of the Turner Syndrome Program at Lurie Children’s alongside Wendy J. Brickman, MD, Attending Physician, Endocrinology. The program brings together specialists with clinical and research expertise across endocrinology, cardiology, otolaryngology, audiology, genetics, neuropsychology, nutrition, ophthalmology, and orthopedics to provide comprehensive care to pediatric patients. The multidisciplinary team considers all aspects of a patient's life to help them succeed, supporting everything from prenatal consultations to age-appropriate learning material and transitions to adult care.
A passionate and determined mom, Claudia has spent 10 years becoming informed about Turner syndrome and seeking out resources so that she feels prepared to guide Emma through every stage. Through the process, she found that she gained more than a new archive of information, but a new perspective. “It changes your way of looking at life,” Claudia says. “It’s made my husband and I stronger. We work as a team and forget about every other little problem. We completely focus on our kids and staying on top of Emma’s care.”
Claudia recognizes that as Emma gets older there will be new obstacles to tackle, but for now she loves watching her be a charismatic and social 10-year-old. “She has this charm with everybody. You meet her, you talk with her and you love her.” When she’s not making new friends, Emma loves math, going to water parks and spending time with her cousins, and her mom says she simply makes every day better.
February is Turner Syndrome Awareness Month and Claudia is proud to be part of the continued education around the disorder, particularly within the Hispanic community. She’s become an advocate for early diagnosis so other parents can better navigate their own journeys with Turner syndrome. “I think the genetic test is the most important thing. It tells you everything.”
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