Sienna was developing normally through her third month of life, but things changed suddenly. One night, she had difficulty sleeping. “In the morning, she kept crying. She was inconsolable,” Jean says. Her husband took over care duties because Jean had been up all night. He noticed that Sienna kept having little tics, something he had not seen before. “We took her to an urgent care center two cities over,” Jean says. “As soon as they saw her, they had us emergency transferred to the hospital.” There, the doctors performed a multitude of tests and eventually determined that Sienna had suffered a stroke.
Eventually, the doctors got her seizures under control, and the family went home. “We had appointments after that to follow up to find out why this had happened,” Jean says. “We did a genetic test and that is how we found out she had GACI.” Her parents learned that they were carriers of the ABCC6 gene mutation. GACI Type 2 makes it difficult for the body to control calcification. Sienna’s stroke was caused by calcification in her carotid artery, which runs up the side of the neck.
Sienna’s medical team grew as they worked through the diagnosis and treatment. Her primary doctor was an endocrinologist. Others on her team included a hematologist, who specializes in blood issues, a geneticist, and a neurologist, a doctor who specializes in conditions that affect the brain, spinal cord, and nerves.