I just finished this article written by Jacqueline Lee in The Mercury News. Ralph is the gentleman that made the Kennedy's Disease Awareness video on Rare Disease Day. Ralph is definitely doing everything he can to raise awareness for this progressive neuromuscular disease. Thank Ralph
"These days, Ralph Briones, 42, has trouble walking up stairs, jogging, swallowing food or lifting heavy groceries.
Still, Briones is using what energy he has to raise awareness about Kennedy’s Disease. He was diagnosed in October with the relatively unknown neurological condition, which affects about 1 in 40,000 adult men.
On Rare Disease Day, which was Feb. 28 this year, Briones launched an online campaign to raise at least $10,000 to further research on the genetic disease that still baffles scientists, doctors and patients: There is no cure or treatment.
All proceeds go to the Kennedy’s Disease Association, which awards annual grants for research.
Just looking at Briones, who continues to work at Stanford University, does not offer many clues of his suffering.
“If you’ve known me a while though, you’d say, ‘You sound kind of funny, you’re walking kind of funny, your smile is crooked,’” Briones said.
That’s because the adult onset disease causes muscle weakness and deterioration, especially in the arms, legs, face and throat. The disease progresses at a different pace in each patient.
Eventually, Briones might not be able to talk or walk. But he’s focusing on the positive.
“When I got diagnosed with Kennedy’s Disease, the first thing I thought was, ‘How long do I have to live?” said Briones, a Santa Clara father of two. “From what I’ve seen, it’s not something that will shorten my life or that I’ll die from quickly.”
A video on Briones’ fundraising site, www.gofundme.com/kennedysdiseaseresearch, features men from around the world — Australia to Taiwan to Michigan — with different symptoms at varying severity.
Kennedy’s Disease patients often are misdiagnosed with ALS, which has similar symptoms. The disease is difficult to diagnose because it’s not on doctors’ radar and requires genetic testing for confirmation, Briones said.
When Briones first experienced symptoms in his late 30s, he thought he was just feeling the effects of aging, so he started to work out daily. Briones, who actively played tennis, snowboarded and danced until his mid-30s, noticed though that he wasn’t building muscle. His muscle cramps and spasms worsened, and workouts would leave him feeling unusually fatigued and sore.
After many doctor consultations, blood tests and an MRI that didn’t turn up anything, Briones and his wife discovered in online research that his symptoms matched Kennedy’s Disease. They asked for a DNA test and, sure enough, it was a match, Briones said. Briones later learned his mother was a carrier.
Because there is no cure or treatment, Briones has had to figure out how to live with the disease. His community through the Kennedy’s Disease Association is a big help. ..."
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