By Lisa, United States, January 13, 2015
Russell and Lisa Ferlita gave birth to their first child, Vincent in February , 2011. At birth it was evident that he had something wrong with his muscles. After extensive genetic testing and care he lost his fight to an undiagnosed muscle disease at six months of age. On October 4, 2012 the Ferlita Family welcomed Lucia Aurora Ferlita. She too showed signs of a muscle disease. Lucia, aka Lucy, has low muscle tone, needs a feeding tube to eat, has a trach and needs a ventilator at night to assist her breathing. Very recently, Lucy received a diagnosis through a genetic test called Whole Exome Sequencing. We were told that both Lucy and Vincent had a rare recessive genetic disorder called, EMARDD. It stands for Early Onset Myopathy, Areflexia, Respiratory Distress, Dysphasia. The gene associated with this disease is the MegF10 gene.
Lucy loves to go on walks and experience new things. She is a very happy little girl. She is extremely bright and is cognitively doing very well. Lucy has many therapies including Speech, Occupational and Physical Therapy which are proving to be very helpful. The Ferlita Family welcomes any information regarding EMARDD and would love to connect to other families that have a loved one with the same disorder.