Parents say baby with rare condition makes progress after intensive therapy at Fralin Biomedical Research Institute
Source: Virginia Tech
Evie was at her six-week-old checkup near Dublin, Ireland, when doctors noticed her head was not growing as fast as it should. Five months later, doctors diagnosed her with a rare genetic disorder – a form of microcephaly caused by a mutation in a gene called CASK. Doctors said her condition was only reported in only 53 females worldwide, and it was associated with insurmountable developmental problems.
From those beginnings, Evie’s parents Emma Nolan and Keith Purdy embarked on a journey that would take them from their home in Ireland to talk with Virginia Tech scientists at the Fralin Biomedical Research Institute at VTC Neuromotor Research Clinic in Roanoke, Virginia. They met Stephanie Deluca, co-director of the Neuromotor Research Clinic, and occupational therapist Megan Price. Together, the group would prove a lot of people wrong about how much Evie really could accomplish.