Robbie Edwards has a rare disease, one so rare that she’s one of only 17 people in the world with it.
She suffers from hereditary spastic paraplegia which represents a large grouping of degenerative neurological disorders that affect motor neurons and functions. The main symptoms that link all the versions is weakness and a tightening of lower body muscles that make it difficult to walk. To learn more about spastic paraplegia, click here.
There is currently research underway toward finding a cure but it’s extremely pricey. As fate would have it, an anonymous “angel” investor has pledged $100,000. This handsome amount will keep Boston Children’s Hospital research moving for a long time.
The donor, who kept his identity anonymous, made it a matching grant, which means that every donation will be matched up to a total of $100,000 until January 31st.
In order to fund the studies, a minimum of $3 million is required. With this initial donation, preliminary proof-of-concept research could be made, which could surely lead to more grant funding.
Robbie began experiencing the symptoms of spastic paraplegia when she was only 4-years-old. She was missing the major milestones of a toddler and by 15 months, she still wasn’t able to walk on her own.
An MRI confirmed that there was indeed an illness, but actually acquiring the diagnosis took longer. They initially thought this might be periventricular leukomalacia, a brain abnormality. Further research led them to spastic paraplegia which was at the time a recently discovered disease.
