Emory Celebrates X & Y Chromosome Variations Awareness Month with Proclamation, Plans for Multidisciplinary Clinic

Emory NursingMay 27, 2016
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X & Y Proclamation Group
Emory students and faculty joined local families at the Capitol for the official signing of the proclamation declaring the Month of May X & Y Chromosome Variations Awareness Month. Participating in the celebration are (from left) Luke Booth; Dorothy Boothe; Dr. Imelda Reyes, Clinical Assistant Professor, Emory School of Nursing; Catherine Meade; Shane Koslen; Mary Meade-Koslen; Morgan Koslen; Governor Nathan Deal; Jade Felice; Joanne Felice; Dr. Sharron Close, assistant professor, School of Nursing; Dr. Amy Talboy, assistant professor, Emory School of Medicine, Medical Genetics; Maredith Nasrallah and Amy Blumling, doctoral student, Emory School of Nursing.

X & Y chromosome variations have been called the quiet epidemic. These randomly occurring genetic conditions are not inherited, but are caused by chromosomes not separating properly prior to or during conception. The most common X & Y condition known as Klinefelter Syndrome, affects one in 500 male births. Due to delays and missed opportunities for diagnosis, only 25 percent of these individuals will learn of their condition in their lifetime. It is a trend that Emory’s Department of Medical Genetics and others in the Atlanta area are trying to change.  This week Governor Deal signed the official proclamation declaring the Month of May as X & Y Chromosome Variations Awareness Month, marking a major milestone in a two-year grassroots campaign to promote better understanding of these chromosomal disorders and the benefits of early detection. Georgia is one of only 17 states nationwide to emphasize the importance of research and education for these genetic conditions with an official observance. The event coincides with Emory’s announcement that it will be working with community partners to open multidisciplinary clinic to help individuals with X &Y chromosome variations lead fuller, healthier and more productive lives.

Humans typically have 46 chromosomes. Males are determined by sex chromosomes XY, and females are XX. People with X & Y variations are either missing a chromosome or have multiple sex chromosomes with one or more extra X’s or Y’s. There are several different types of X & Y disorders, such as Klinefelter syndrome (47, XXY), Turner syndrome (45, XO), Jacobs Syndrome (47, XXY) and other unnamed variations such as 48, XXXY or XXXXX and 49, XXXXY and XXXXX. The effects of these conditions vary from very mild to severe and may include medical, developmental, behavioral, and psycho-social concerns. Sharron Close, PhD, a professor and genetics researcher at the Emory University Nell Hodgson Woodruff School of Nursing, said that with proper timing in diagnosis and coordinated care, children with X and Y chromosome variations can achieve their highest potential academically, physically and socially, greatly improving their quality of life and health outcomes.         

“Children with X & Y variations need more than just physical medical care,” said Dr. Close. “But with early diagnosis and appropriate interventions, many symptoms can be successfully managed.”

The challenge for most families, Dr. Close said, is that there are currently only two clinics in the United States that offer this kind of comprehensive care. Waitlists at these facilities can be as long as three years. To address this need, Emory is working with community partners to develop a multidisciplinary clinic, dedicated to the care of individuals with X & Y chromosome variations. The clinic, called eXtraordinarY Kids Clinic, will serve as a Southeastern regional center for the research, education and treatment of chromosomal disorders.

The clinic is currently operating out of Emory’s pediatric genetics clinic, located at 2165 North Decatur Road. Plans are underway to relocate the clinic to another Atlanta location that will enable a full spectrum of services to be offered in one location. In addition to pediatric nurse practitioners, developmental pediatricians, endocrinologists, urologists, neuro-psychologists, the new clinic will also include a range of other ancillary services such as speech and language therapy, occupational therapy, physical therapy, and oral health.

“We are hoping within the next year to find a new home and incorporate all of these disciplines under one roof, so that families don’t have to travel all over Atlanta to see different providers,” said Close.  

Close said that in addition to providing much needed support and treatment, the new clinic will also provide families with something called, “anticipatory guidance” or a roadmap that informs parents of what their kids will experience and how best to help them through it.     

“Knowledge is power,” said Close. “There are so many families waiting in the background, who have needed help for a long time and finally there is hope right here in Atlanta.”