Like most 3-year-olds, Robbie Edwards loves action. But Robbie faces more challenges than most her age.
Last summer, an MRI revealed a genetic cause for Robbie’s developmental delays. She was diagnosed with an ultra-rare sub-type of hereditary spastic paraplegia called SPG 47. The brain can’t correctly produce a protein needed for central motor neurons to function properly. At the time, there were only nine known cases in the world.
Robbie’s father, Chris, said, “We wanted answers and there’s very little information.”
At this point, what researchers do know is there is no cure and patients lose mobility. In the already documented cases, patients have developed paraplegia and quadriplegia.
Dr. Basil Darras, a pediatric neurologist at Boston Children’s Hospital who studies SPG 47, described some of the symptoms.
“Instead of having tight muscles, the muscles are floppy and they have low tone. Sort of unusual,” Darras said. “As time goes on, they develop spasticity. As we see with kids who have cerebral palsy.”
It was a devastating finding for Robbie’s parents, Kasey and Chris. So Kasey went online, reading research papers and joining forums for parents with children diagnosed with similar diseases.
In September, in one of those parent forums, the unexpected happened.
Kasey said, “It was disbelief at first. I just thought, oh, he, that’s a typo.”
Despite the extreme rarity of SPG 47, another parent in the forum shared his daughter also had the genetic mutation. It was a sudden link to someone going through exactly what they were.
Chris said, “We realized that we weren’t completely alone in this.”
The Duffy family lives in Philadelphia and their 3-year-old daughter, Molly, also has SPG 47. The girls are the only known cases in the U.S. Through Facetime, the families got to know each other and last month, they met at Children’s Hospital in Boston. That meeting full of smiles, hugs and the beginning of a friendship that is now the force behind their nonprofit, Cure SPG 47.
Chris said, “We’re facing pretty much impossible odds, we know that but you know, we’re not going to give up on our kids.”
For more information about SPG 47 and the Edwards and Duffy families, click here.