Newborn Screening Family Stories: Sophia's Story - Minnesota Dept. of Health

Newborn Screening Family Stories:
Sophia's Story

Sophia Our daughter Sophia was born on April 22, 2011, almost a week late. My pregnancy was fairly normal, and giving birth to her was very easy! But when she was born, the doctors were concerned because she had ambiguous genitalia—her gender was unclear.

She had her newborn screening and then went to a children's hospital soon after birth. They weren't sure what condition she had, but the endocrinologist thought it could be congenital adrenal hyperplasia (CAH). We were able to take her home 5 days after getting her stable. Later that week, we got the news from the Newborn Screening Program that she did have CAH as the endocrinologist had suspected. It was a very scary time. We had a lot to learn about this condition—including that it is life threatening if not well taken care of, but that babies with CAH can also live to be normal, healthy children.

We have learned a lot through a support group founded by the Minnesota Department of Health, and have met some adults who also have CAH. It is great to see how they have grown up, gotten married, and lead very normal lives. We follow very closely with our endocrinologist and make changes to Sohpia's medications as needed. And now she is healthy and loves going to her karate class, riding her bike, and playing with her older sister Bailey.

If it wasn't for newborn screening, Sophia could have died from complications of her disorder. Now she is a very spunky 4-year-old, and nothing holds her back!