Faces of ATAD3A:

Hillary is 18 years old and lives in Indiana with her parents and two brothers. She was born healthy and came home right away in 2007. When Hillary was just 10 weeks old, her mother noticed a cloudiness in her pupils. Concerned, we took her to her pediatrician, who referred us to our local children’s hospital. Her ophthalmologist told us that Hillary had bilateral cataracts. She had her first surgery to remove them at only 12 weeks old. Because cataracts in infants can someti

Note: this story was submitted in Brazilian Portuguese and translated into English. The original text is included below. In the beginning, Alex’s early development appeared typical, until he started walking. At around 13 months, when he began walking with support, signs of global ataxia (a lack of muscle coordination) and delayed speech became noticeable. Alex started rehabilitation therapies, and by age 3, he began to speak—slowly, but surely. By 5 years old, he could walk w

We are a Belgium-Dutch family, living in Alella (Barcelona, Spain). Senna was born on May 1, 2023, after a C-section due to a drop in his heart rate when I was having contractions. He had the umbilical cord wrapped around his neck three times including a knot, which explained his discomfort. Luckily, he was perfectly healthy, even scoring a 10/10 on the Apgar test. Our dearest dream had come true: a healthy baby boy and a little brother for our daughter Maité. Three months la