Richmond Man Brings Attention to Rare Disease Day
Thursday, March 2, 2017
Posted by: Caron Trumbo
Rob Drescher sits on the edge of a massage table while a team of Sheltering Arms physical therapists tends to him from practically every angle. Appointments like this one have been a way of life for as long as the 21-year-old can remember.
“I was actually misdiagnosed since I was born,” Drescher recalls. “I was going off the wrong information.”
After years of blindly treating symptoms, doctors finally made the diagnosis when Drescher was 15-years-old: blue rubber bleb nevus syndrome. Drescher, who lives in Chesterfield, says the vascular condition is so rare that fewer than 300 people have it worldwide.
“This mass that’s made up of veins and arteries that tend to float around my chest cavity and my back,” Drescher describes the main symptom of his disease.
The dots on Rob Drescher’s hand are signs of masses within. There are also outward signs in the dots scattered on his skin. They represent masses within his body causing internal bleeding and the need for regular transfusions.
Drescher became a paraplegic at age 14. It is why he relishes each moment he can walk at Sheltering Arms with an Indego Exoskeleton and dreams of having his own robotic suit to use every day. After his physical therapists secure him in the exoskeleton, Drescher steadies himself and takes one step after another, as his uncle, Kevin Kitrick, watches from a few feet away.
“It just makes me so happy,” Drescher exclaims with a gleam in his eye. “It’s so hard to explain because it brings out this joy in me and happiness. I can’t stop smiling. It just changes my life more than you’d ever know.”
He educates others about blue rubber bleb nevus syndrome in as many ways as he can. He is a mentor to newly-injured patients at VCU Medical Center and volunteers with the United Spinal Association of Virginia as a peer mentor. This year Drescher is partnering with Virginia Blood Services to thank donors.“There’s people like me that just need blood on a daily basis to get through life,” he said.
Drescher advocates before lawmakers and pharmaceutical companies to secure more resources for others with rare diseases. The Sportable wheelchair lacrosse player also tells anyone and everyone about blue rubber bleb nevus syndrome. “There is no limits,” Drescher explains as he maneuvers out of his wheelchair and into the car he drives with hand controls. “Everybody is able to do whatever they put their mind to.”
Rare Disease Day is held on the last day of February every year to raise awareness about rare diseases and the individuals who live with them. There are an estimated 6,000 rare conditions, according to the Rare Disease Day campaign. In the United States, a disease or disorder is defined as rare when it affects fewer than 200,000 Americans at any given time.
Learn more about this story here.