Dave Proctor is a runner. And like most great runners, he is running towards something, not away from it.
Dave is running towards a world where rare disease patients have more options for their condition. This summer, he will run across Canada in 66 days to raise over $1 million for The Rare Disease Foundation which has a microgrant program that stimulants new research for rare diseases. That is what Dave is running towards.
Dave is also running for his son Sam who has relapsing encephalopathy with cerebellar ataxia. According to Dave, Sam is 1 of only 6 people in the world with this unique form of ataxia in which an infection can basically shut down Sam’s cerebellum, an area of the brain associated with balance and movement. Sam has had 2 episodes in his young life. During each episode, he was basically paralyzed and following the episode, his motor skills returned but they were not as good as they once were. For example, Sam is about to have his 9th birthday and he has never been able to jump in his life.
The diagnosis of relapsing encephalopathy with cerebellar ataxia was only recently made. For most of Sam’s life, the family has been trying to find a diagnosis. Luckily, Care 4 Rare, agreed to do a whole exome sequence of Sam and 8 months ago the Canada-wide research group confirmed that Sam has relapsing encephalopathy with cerebellar ataxia. That diagnosis can help them focus their efforts towards research as well as doing their best to keep Sam from having another episode.
One concern the family has is that infections are part of life. In an exclusive interview with Zeal Access, Dave said “we’re kind of sitting ducks when it comes to the viruses going around and triggering genes.” They do not know when another episode will occur but in true Dave Proctor fashion, they are running towards finding better treatments for this rare disease (i.e., raising money for research) rather than running away from it.
Why the Rare Disease Foundation
After Sam’s second episode, when he was just 2-years-old, the medical community started to try and diagnose Sam. Dave said, “we exhausted the Canadian health care system and they ended up sending us down to the Mayo Clinic in Rochester, Minnesota.” But even there, at one of the most respected medical institutes in the world, the doctors were stumped as to properly diagnose Sam.
One of the most surprising things about Sam’s diagnosis of relapsing encephalopathy with cerebellar ataxia is that in 20-20 hindsight it makes perfect sense. But until Care4Rare made that diagnosis, the Proctors and all their doctors were stumped. And that got Dave thinking – more awareness and more research is needed so that when parents and doctors start searching for answers, there is more information available to assist them.
“We need to increase funding, we need to increase awareness about rare diseases within this country and all over the world,” acknowledged Dave. And that got him thinking – “hey, I do these outlandish running feats that garner a lot of attention. Why not run across Canada for rare diseases.”
The Across Canada run will require Dave to run from Victoria to St John’s (7200 km) in 66 days. Proceeds from the fundraising run will go towards the Rare Disease Foundation which provides small research grants to rare disease researchers so that more information will be available when that next parent or doctor starts looking for answers. The Foundation also has other programs, like the Parent 2 Parent Network Program and the Family Counselling Assistance Program, that directly help rare disease families.
For more information about the cross-Canada run, outrunrare.com
For more information about the the Rare Disease Foundation, visit rarediseasefoundation.org