Until recently, most X and Y research was descriptive in nature and offered few interventions to help patients and families. We can also educate families about research opportunities available to them." We will follow every child over time to make sure their needs are addressed, their therapy is adequate, and that they are progressing as hoped. "We want to be available to anyone who would like to see us. "We are growing a step at a time," says Talboy, a faculty member in human genetics. The clinic now has a wait list, and its co-directors are debating whether to add a second clinic day. They can also counsel expectant parents about possible risk of X and Y variations detected through prenatal screening.Ī genetic counselor, nurse navigator, neuropsychologist, pediatric endocrinologist, and adult urologist staff the clinic, in addition to Close and Talboy. ![]() The clinic evaluates their needs and connects children and parents with early intervention programs, speech and language therapies, and occupational and physical therapies as needed.Īs children grow older, clinicians can address reproductive health problems that may arise during puberty. "Our clinic meets a tremendous need."Ĭlose and Talboy currently see patients who have been diagnosed via chromosomal analysis. "Families have been falling through the cracks for decades," says Close, a faculty member in the nursing school. While X and Y variations are not rare, they are rarely diagnosed, leaving children, adults, and families to struggle on their own without knowing why. Boys with Klinefelter syndrome may have tall stature, weak muscle tone, testosterone deficiency, and unhealthy metabolic profiles that predispose them to conditions such as central obesity, diabetes, hyperlipidemia, and cardiovascular disease.īoth groups may experience issues with reproductive health and learning and social disabilities that impact psychosocial health and quality of life. Girls with trisomy X, for example, may be unusually tall and have weak muscle tone and widely spaced eyes. Some people with variations such as trisomy X (which occurs in one out of 1,000 female births) and Klinefelter syndrome (which occurs in one out of 500 males births) live free of or are mildly affected by symptoms, while others face lifelong medical, developmental, and behavioral challenges. X and Y variations are not inherited and occur when girls (XX) and boys (XY) are randomly born with more or less than the expected number of sex chromosomes. ![]() While its patient base is small, its reputation is growing as a resource for families affected by sex chromosome variations.Įstablished by pediatric nurse practitioner Sharron Close and developmental pediatrician Amy Talboy in 2016, the clinic is the first in the Southeast and one of a few nationwide that provide information, treatment, and access to research for these conditions. ![]() One day a month, the recently opened "eXtraordinarY" clinic sees two to three young patients in Emory Clinic B.
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