Coulda-shoulda-woulda? Not for Tory Provenzano.
If I want to try something, I try it. If I dont like it, I dont do it again, Tory said. Wise words from someone who has only be around a decade.
He might not be able to run fast or walk long distances, and he has trouble doing stairs, but, he said, he can do anything he puts his mind to.
Since being diagnosed with DMD when he was two, Tory has rappelled down a 40-foot wall, zip lined, snorkeled in Cuba and rode the big roller coasters at Disneyland. Hes a regular swimmer, is a cub scout and has taken up karate. Tory also does therapeutic horseback riding weekly.
Im still a little bit upset, but not as much as I was, Tory said, admitting that he used to be angrier about having DMD and wondered why he was born with the genetic disorder that has no cure.
It was when he rappelled down that wall in a harness at scout camp a few years ago that he realized there were lots of things he could do, and his outlook changed. Im mostly like an ordinary kid but I have a few challenges, he said.
DMD is one of several neuromuscular disorders in the muscular dystrophy family and it typically affects boys.
Muscular dystrophy causes the muscles to weaken and waste away because of an error in the gene that produces the dystrophyn protein, which keeps muscles strong. Depending on the type, it can manifest itself in childhood or later in life and in some cases, those with muscular dystrophy can lose the ability walk, speak and, in some cases, breathe. The median length of survival for someone with DMD is in the mid-20s.
There currently is no cure for any of muscular dystrophys subsets, but Tory is one of about 170 boys enrolled in a worldwide clinical trial for a therapy that could help slow the progress of DMD.
Every Tuesday, Tory and his parents drive to London for his injection. Hes learned deep breathing exercises so he doesnt scream when he gets the needle. I can tell it really helps now, Tory said.
Dr. Craig Campell, a pediatric neurologist at the Childrens Hospital of London Health Sciences Centre, heads the London site of the clinical trial, which is funded by GlaxoSmithKline, the manufacturer of the drug. The trial started about a year ago.
It doesnt correct the problem entirely, Campell said of the test drug, but it could help reduce the severity of DMD by helping the recipient produce a more complete though still imperfect form of dystrophin.
The two-phase clinical trial includes a 48-week random double-blind trial and, after that, an extension where patients keep receiving the study drug and are monitored for its effects.
There are nine boys enrolled in the trial in London, making it the largest site of the 20 trial sites worldwide.
Weve been able to move kids through the study safely. No ones had to drop out for safety issues, Campell said. The researchers expect to have results by the end of 2013.
With weekly injections, safety monitoring and strength tests to see if the drug is having an effect, Campbell said, it certainly is a strenuous process for families.
Its tough, said Torys mom Kelly Provenzano, who runs a daycare in Chatham. But she and her husband Frank, an engineer, do what they have to do for their only child. We just live day to day and make sure that everything we do is to make his life better.
While Tory needs help with stairs and getting up off the ground, the daily routine is manageable, Provenzano said. There is daily stretching to keep Torys muscles supple, the weekly drive to London and organizing an annual golf tournament and muscular dystrophy walkathon, which have helped the Provenzanos raise close to $300,000 for muscular dystrophy research.
Tory said that while classmates are pretty familiar with muscular dystrophy (he gives presentations regularly at school) hes surprised at how few people know about the disorder. And yes, he does tire of having to explain it to people over and over again.
Tory is helping his family organize the annual golf tournament, which takes place each August, and then hes headed to his uncles cottage. Hes already been camping and to Disneyland since the start of summer vacation. And hes starting to give some thought to how he wants to celebrate his birthday at the end of the summer.
He hasnt figured out what new things he wants to try in the second half of 2012, he said, but he definitely wants to give snorkeling another go.
Torys parents began hosting an annual charity golf tournament nine years ago, when Tory was diagnosed with DMD.
All of our friends were golfers so it seemed like the way to go, Provenzano said. The family decided to support the Jesses Journey foundation, based in London, because it gives money directly to research.
Torys Tourney, as it is known, will be held Aug. 11 at Rochester Place Golf and Country Club in Belle River. There is also a steak barbecue at the Knights of Columbus Hall in Emeryville afterwards.
For registration information visit www.torystourney.com .