Clinicians believe she may outgrow the seizures. The cause of her migraines remains unknown for now.
“If you put 15 girls with trisomy X in the same room, each one would present with different problems,” says Close, an assistant professor at the Nell Hodgson Woodruff School of Nursing. “We’re here to support families and figure out a targeted therapy for each child.”
In years past, families affected by X and Y variations had few treatment and research options. To close the gap, Close organized conferences in 2015 and 2016 to engage patients, families, doctors, and researchers in developing ways to help children and parents manage X and Y symptoms and cope with the issues they face.
Georgia Governor Nathan Deal signed a proclamation declaring May as X & Y Chromosome Variation Awareness Month, marking a milestone in a grassroots campaign led by Close, Talboy, and Dorothy Boothe, whose teenaged son has XXY syndrome.
Boothe is a parent leader with the Southeastern Regional X and Y Support Group, which draws patients and families from Georgia and five surrounding states. The group meets bimonthly, often at Emory. “The first time we met, we had five or six times more people than we expected,” says Talboy. “Everybody feels they are on their own, and when they come together, it’s just remarkable.”
When Tori St. Germain brought her daughter Emma to the eXtraordinarY Clinic, she found solace in being at a place that understands her family’s needs. Her younger daughter, four-year-old Megan, has a different disorder—chromosome 6, a rare type of genetic disorder that can cause speech and developmental delays and chronic health conditions.
A devoted mom, Tori has learned everything she can about her daughters’ conditions to help them grow up normally. Each day has its joys and challenges. “It’s a lot to deal with,” she says. “The eXtraordinarY Clinic is there to listen and to help.”
TO SUPPORT clinical care and research for patients with sex chromosome variations, contact Amy Dorrill, senior director of development, at 404.727.6264 or [email protected].