A North Vancouver boy's battle with a rare degenerative disease took a turn for the better this August, when he was approved to take part in the trial of a promising new drug. He is the first Canadian to join the study.
Trey Purcell's seven years of life have been a struggle with Hunter Syndrome. While he was still a baby, a series of seemingly unrelated medical conditions led to the heart-breaking diagnosis.
"We were just devastated," said Trey's mother Deb Purcell. "I've never been hit that hard by anything in my life."
Those affected by the disease - 35 people in Canada - lack the enzymes to break down certain long-chain sugars. These sugars build up and damage many different tissues in the body and in most cases, including Trey's, the brain.
Untreated, Hunter Syndrome is fatal.
In 2006, Trey started to receive IV Elaprase, which helps break the sugars down in the tissues of the body. The results, said Purcell, have been clear.
"He's growing when he wouldn't otherwise be growing anymore," she said. "Before he started treatment, his height was already starting to go down. He wasn't shrinking, but in terms of his place on the growth charts. His facial features are softening. If you look at pictures of him before the treatments, his face was already starting to coarsen.
"It's helping his connective tissues and heart muscles. His organs have shrunk back to their normal size so his belly isn't enlarged, and his range of motion is back within normal limits. He was having some trouble hanging on monkey bars and that sort of thing. It's helping him live, basically."
On Aug. 19, after a battery of tests, including an IQ screen and a pressure
test of his brain, Trey qualified for another drug, IT Elaprase, which is intended to deliver similar effects for brain tissue. Even more fortunately, Trey was admitted to the trial group that received the drug, rather than the control group.
Purcell says the results in other children so far have been promising.
"The first kid, who's been on the drug for a year-and-a-half now, his IQ is normal again," she said. "It went back up. So it's not just halting progression; it's reversing it.
"Another child who had moderate to severe hearing loss, his hearing is now normal."
To receive the drug, Trey and his mother must travel to North Carolina for ten days out of every month. The schedule is a grueling one, despite the pharmaceutical firm Shire covering their travel and accommodation expenses. But Purcell says the monthly trans-continental trips are a small price to pay for hope for her son.
"For anyone whose child's life isn't riding on this drug, it's inconvenient. For me, it's the gravy," she said cheerfully.
The first drug given to Trey is now considered a safe, effective treatment.
Although the IT variant is still only a trial, Purcell said she is very hopeful that the two will give Trey the opportunity for a normal life.
"He's starting to struggle socially," she said. "The kids he knows accept him and work with him, but he's starting to have trouble with meeting people. But he loves his life and we're excited to get him into the trial."
Purcell and her husband Ryan, who have two other young children, have received support from the Canadian MPS Society, which helps patients and families affected by the group of conditions that includes Hunter Syndrome. The Purcells are also staging a fundraising gala Sept. 24 at the Sutton Place Hotel in Vancouver.
Joining them will be a roll call of actors from locally filmed television series, from Smallville to Stargate, Fringe to Supernatural.
To learn more about the gala or Hunter Syndrome, visit www.onceuponacure.com or www.treypurcell.com.
