Just after giving birth to her first child, Mandy was baffled by her doctor’s comment: “We’re not sure if you have a girl or a boy.”
“What do you mean you can’t tell me?” she said. “It’s either a girl or a boy. How can you not know?”
So the doctor showed Mandy and her husband, Russ. The baby had genitalia resembling neither a typical girl’s nor a typical boy’s. The infant would be diagnosed with congenital adrenal hyperplasia (CAH), a condition in which the adrenal gland lacks a necessary enzyme to make certain hormones; meanwhile, the body produces too much androgen, including testosterone. CAH, the most common cause of ambiguous genitalia, occurs in 1 in every 10,000 births. People with CAH require medication to regulate their hormones throughout their life.
A month after delivery, Mandy finally named her child, Ci Ci. A series of tests had shown that she was female, including a blood test showing she had the typical female XX chromosome pair.
Though Mandy and Russ were relieved to know their child’s sex, Ci Ci still had to undergo surgery at six months old to reconstruct her genitalia.
“I still couldn’t believe that anything like that was possible,” Mandy said.
When Ci Ci was about 9 months old, Mandy discovered she was pregnant again. Savvy was also born with CAH. Though her genitalia appeared much closer to that of a typical female, her vagina was closed. At about seven months old, Savvy underwent reconstructive surgery.
Now, the girls are happy and healthy, enjoying school and other activities. “As frightening as both surgeries were for me, I’m glad to have them done,” says Mandy. “I want to be able to talk about the conditions and surgeries with my girls as they age, knowing that we’ve taken care of them.”
“Children like Ci Ci and Savvy need specialized care, and their families need unique support to make decisions about their care,” says Dr. Jayanthi. “We have been providing this care for years, and now, through the THRIVE Program, we are able to do it in a more expansive and structured way.”
The THRIVE Program specializes in the care for differences and disorders of sexual development (DSD), such as CAH, as well as complex urological problems and gender concerns. Because we see one of the largest populations of patients with DSD among children’s hospitals in the United States, we have the experience and expertise to drive the conversation surrounding the unique health care needs of these patients.
“In recent years, we have learned a lot about the impacts of DSD and other urological problems on children as they age,” says Dr. Jayanthi. “We work very closely with a multidisciplinary team of experts to educate parents, physicians, children and teens about their bodies and their options.”
Through the THRIVE Conference, first held in 2015 with more than 100 attendees, the team shares expertise and experience regarding the biopsychosocial approach to sex development and gender to advance care for every child.
“Many surgeons and programs can do reconstructive surgery. But recognizing that psychosocial issues are just as significant as their physical needs, we have built a program for the whole child and their family,” says Dr. Jayanthi.