Carrie and Mike describe their family – “two kids, two dogs, and two semi-grownups” – as being busy, hectic, crazy, and normal. The pair smile and laugh as they talk about their children, Ella, who is 11, and Parker, who is five, while the dogs snooze at their feet.
They like to be an active family, spending their winters skiing and summers at the beach. They also like to go on bike rides together and Parker is currently learning to ride without training wheels. Outside of school, Carrie and Mike shuttle Ella to horseback riding, art club, field hockey and guitar lessons.
Self-described as joyful and brave, it’s difficult to tell that Ella deals with two rare genetic conditions: generalized arterial calcification of infancy (GACI) and phenylketonuria (PKU). When Carrie was pregnant with Ella in 2011, her symptoms were what she expected in a first pregnancy: she was exhausted and nauseous during the first trimester, but otherwise had no concerns to raise to her doctor.
However, as Carrie’s pregnancy progressed, her obstetrician-gynecologist (OBGYN) noticed on ultrasounds that Ella had a thicker neck fold. That can be a marker for various health conditions and Carrie’s doctor recommended additional testing.
One of these tests was an amniocentesis, which is used to diagnose genetic disorders such as Down syndrome and neural tube defects such as spina bifida. Carrie says they were relieved when the results were negative, but her OBGYN remained uneasy and worried about low birth weight. "This doctor was unbelievable. She did her due diligence and had us go in for a late-term ultrasound which is very rare," Carrie explains. Carrie and Mike agreed to the ultrasound because they thought it would be fun to see their baby again. They had no idea how crucial this exam would be.
During the ultrasound, their technician became alarmed when he saw bright spots around their baby's heart. Mike recalls the technician took numerous images, mumbled something about calcium, told them he had to talk to someone, and left the room. Mike says they pulled out their phones and searched the words calcium, heart, and ultrasound on the internet. "And boom, one of the first things that popped up was GACI.”