A local girl is one of 17 people in the world diagnosed with a rare genetic disorder.
It's so rare that there's little funding for research, but her parents have made it their mission to change that and they're getting some generous help.
Robbie Edwards turns four Tuesday. She's one of 17 people in the world that suffers from a rare genetic disease.
The Newburyport parents initially noticed some delays when Robbie was less than a year old.
"Her ability to hold up her head was lacking. Certainly by the time most infants are rolling over, it was pretty clear she was having a hard time meeting those milestones," said father Chris Edwards.
After many months, many questions and even more tests, and MRI revealed brain abnormalities that were similar to cerebral palsy, but a full genetic screening revealed a rare genetic disorder, SPG47.
Robbie, 4 of Newburyport, has a rare genetic disorder, only 17 ppl have been diagnosed worldwide. Her parents have made it their mission to raise awareness & funds for research. @boston25 @ 6 & 10, how an angel donor is stepping up for for @CureSPG47 + how you can help too. pic.twitter.com/Nll8v5HQk0— Kerry Kavanaugh (@KerryKavanaugh) December 12, 2017
"So SPG stands for 'spastic paraplegia gene' and they're numbered in the order they were discovered. So this was the 47th link between a defective gene and spastic paraplegia," said Edwards. "It was absolutely overwhelming. At the time, we believe this was the 10th diagnosis worldwide."
Of the known cases worldwide, by a certain age, children no longer make progress and in fact, lose certain functions like walking and talking.
Nonetheless, Chris and Kasey Edwards started gathering all the research they could find, contacting hospitals and doctors, building their own medical advisory team.
Then, they found another case in Philadelphia. Connecting with that family a year ago ignited a mission.
"I think we one day we just flipped the switch. It was like, alright well, there's no funding, there's no research. Let's do it, let's see what we can do," said Edwards.
Out of that moment, the foundation Cure SPG47 was born; a foundation that raises awareness and funding for research. Now, they hope to be able to do even more.
"We have an anonymous donor who has very generously offered to match all donations up to $100,000," said Edwards.
An angel donor is stepping up, hoping to make a miracle happen for Robbie.
"We will continue to fight for this for our lives and if not for our kids, then hopefully any other kids getting newly diagnosed," said Edwards.
The angel donor will match donations up to $100,000 through January 31.
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