Stronger together: Families of girls with SPG47 find support in each other

Imagine your child is diagnosed with a rare neurological condition. So rare that there are only a handful of reported cases, and those are from halfway around the world. This was the case for Chris and Kasey Edwards of Massachusetts and Kevin and Angela Duffy of Pennsylvania. Their daughters’, Robbie and Molly, are among only 11 children in the world to be diagnosed with an extremely rare genetic disorder, called spastic parapalegia-47 (SPG47). “When they told us how rare this was, our minds were going in a thousand directions,” says Kasey, Robbie’s mom. “We didn’t know what to think.” The two families thought they were all alone, until they found each other. And on a recent warm fall afternoon, these two adorable girls and their parents met in person for the first time at Boston Children’s Hospital, where they both receive care. About SPG47 SPG47 is a type of genetic disorder that resembles cerebral palsy. It’s part of a group of disorders known as hereditary spastic paraplegia (HSP) and is sometimes called HSP type 47. As babies, children with SPG47 have very low muscle tone (hypotonia). Children with SPG47 have delays with walking and speech, and may have intellectual disabilities. As the children grow, their muscles become stiff and they can lose the ability to walk on their own. Although the girls’ parents had been anticipating the meeting for weeks, Robbie and Molly seemed oblivious to the fanfare surrounding them, as they played at a playroom kitche...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Department of Neurology Dr. Basil Darras hereditary spastic parapalegia HSP type 47 living with rare disease SPG47 Source Type: news