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Hope on the horizon

Without treatment, five-year-old Noah Jancicka of Prince George will lose the ability to walk in just a matter of years. Then, as his fatal form of muscular dystrophy progresses, his heart and lung muscles will eventually stop working.
Noah playing with lego

Without treatment, five-year-old Noah Jancicka of Prince George will lose the ability to walk in just a matter of years.

Then, as his fatal form of muscular dystrophy progresses, his heart and lung muscles will eventually stop working.

As parents Erik and Leah process the dire prognosis that comes with a Duchenne muscular dystrophy diagnosis, they are clinging to hope that promising research breakthroughs will be approved in time for Noah to benefit from them. While the science provides hope, the time-consuming process to get new drugs approved can be unbearable.

"We're just on the cusp, we're on the edge of so many things," Leah said. "It comes down to awareness and funding and bureaucracy, which is so frustrating."

Duchenne affects about one in every 3,500 boys born and is the result of a genetic mutation. In many cases, it's passed down through families, but Noah is among the group where a spontaneous mutation led to the condition.

The error in genetic coding prevents the body from making a certain protein that muscles need to survive. As the boys with Duchenne get older, the muscles continue to deteriorate and often by the time the boys reach 10 or 12 years old, they need a wheelchair to get around.

Then they need a ventilator to help them breathe.

Most boys die by the time they reach their late teens or early 20s.

"It's the lungs and hearts that end up killing them," Leah said. "Because they're muscles too."

The new treatments on the horizon could change that and give boys with Duchenne the chance to live a longer and fuller life. If the breakthroughs hold, it can stabilize the deterioration and in some cases even improve lung functioning.

"It fools the body into skipping the bad chunk of the gene and [helps] produce a protein that's not 100 per cent [correct], but is close enough to have some effect on the body," Erik explained.

Last summer the U.S. Federal Drug Administration (FDA) appeared to signal that it might fast track approval, but in the fall the agency reversed its stance and may send the potentially life-saving medication through a more rigorous screening process, which could take years to complete.

A petition is currently collecting signatures to get U.S. President Barack Obama to intervene and move the drug back on the fast-track route so that children like Noah can get access to it sooner.

In the meantime Erik, Leah, Noah and other Duchenne families wait.

"Boys are losing the ability to walk, boys are dying," Leah said. "It's sickening."

"... you're always grieving for what will be..."

There were signs early on that Noah wasn't developing the same coordination as other children his age. He was never able to jump and he struggled with stairs and related motor skills.

At first, the Jancickas and doctors attributed the problem to flat feet, but as his mobility issues continued Noah was referred to specialists to get a better idea of what was happening.

After undergoing some genetic testing, the family found out last May that the diagnosis was the dreaded Duchenne form of muscular dystrophy.

"It was devastating," Leah said thinking back to what it was like to go through the testing process only to find out the outcome was the one result they didn't want. "All of your hopes and dreams - you can't help but envision a future for your child . . . but you can't think too far into the future any more."

For Leah, she felt the immediate desire to get as much information as possible about Duchenne and spent hours on the computer researching and connecting with online groups of parents who have sons with the disease.

"I was one of those who was on the Internet until 3 a.m.," she said. "Just research, research, research."

The online groups helped Leah look ahead to the future with what the family might expect when it comes to wheelchairs and other medical devices Noah will need.

Erik had a completely different reaction. When he found out his first-born son had the debilitating condition, he sunk into what he describes as a dark place.

"I'd be at work and I'd just completely break down and have to close my door and take five minutes," he said.

The mini-panic attacks he suffered eventually stopped, but they were followed by a period of denial. For a while, Erik focused on living in the moment and didn't let Noah's long term fate enter his mind.

The grieving process for what he hoped Noah would become continued over the next few months but Erik said he's now in a place where he can accept the diagnosis.

"It's one of the hardest things to deal with," he said. "When somebody dies, it's a clean break, you can grieve it and start to move on. But [with Duchenne] you're always grieving for what will be ... it's a horrible mental place."

As tough as the weeks and months were in the aftermath of the diagnosis, Erik said he's happy he and his wife handled it differently because they were able to balance each other out and support one another.

The Jancickas took proactive steps right away, such as finding an accessible house in Pineview to move into so that Noah could live in a home where stairs aren't in his way.

"There are going to be so many differences in his life that he's going to have to deal with, I don't want his home to feel that way," Leah said. "It needed to be inclusive."

One step at a time

The treatment in clinical trails in the United States that has been so promising for boys with Duchenne won't help Noah, at least not right away.

The exon skipping therapy currently proposed would help about 13 per cent of cases, but Noah isn't part of that group. There are many different forms of the genetic mutation that causes Duchenne and the proposed treatment is designed to help only the most common type.

"It's creating a bridge to make the gene complete," Leah said.

The bridge also creates a road map to create similar treatments for each of the other forms of the illness, including the one that Noah is diagnosed with. He has the 10th most common type of Duchenne, so it might take some time after the initial approval before the drug he needs is created.

"Once the first one is approved and shown to be effective, it should be a no-brainer to click, click, click and produce it down the list [of the different types]," Erik said.

Once the medication is approved in the United States, the Jancickas and other Canadian parents will then need to begin to lobby Health Canada to approve it here.

For now, they're taking it one step at a time.

Erik and Leah know that the treatment for Noah won't come overnight, but that's why they feel it's all the more urgent for the FDA to approve the first generation of treatments so work can begin on the next phase.

For the past few weeks, they've been encouraging everyone they know to sign the petition soon so that it reaches the 100,000-signature threshold by March 29 so that it can be forwarded on to Obama's desk. With a week to go in the campaign, organizers are about two thirds of the way to their goal.

The campaign got off to a slow start, but with some celebrity endorsements coming from the likes of Sarah Jessica Parker, it's beginning to pick up steam.

Canadians can sign on as well and join the call to have the FDA fast-track the medication. Your name and an email address is all that's required to sign up. The petition is available at: http://pgc.cc/1gGCgWc

More information about the campaign to get the drug fast tracked is available at TheRacetoYes.org.

The petition campaign is also about making more people aware of Duchenne and the potential breakthrough that's on the horizon for those with the condition and their families.

"This cutting edge stuff is so close," Leah said. "We're almost there."

Like just any other kid

Although Noah can't move as fast as other kids his age or jump as high, his motor functions right now are relatively strong. His kindergarten classmates treat him like just another kid and find ways to include him in physical activities, like games of tag.

"They slow down so he can tag them," Leah said. "Kids are amazing."

In addition to all of his doctors appointments, Noah takes part in water therapy and horse riding therapy programs to stay active.

He's on the current standard treatment of steroids, which helps give the body a temporary boost in muscle development. That can delay the onset of complete muscle deterioration by a few months or even a couple of years. The steroids buy Noah some extra time, but prolonged use of the drug will lead to side effects.

So far Noah has never expressed concern about not being able to do everything that other kids can.

"He's pretty amazing because he just adapts," Leah said. "I've read over and over again, it's the parents who have the hardest time of it."

His parents have yet to tell Noah the full details of his diagnosis, but they suspect he knows something is up. They expect he'll begin asking questions when he's ready to know more and at that point they'll give him the honest answers.

"He had a rough go of it because when we got the diagnosis of course we were destroyed," Erik said. "We were doing our best to shelter him from that and protect him from that, but of course he knew something was going on because mom and dad were always sad."

Leah and Erik are doing better now that they've had the time to fully process what's going on with their son. They also had Noah's younger brother Caleb tested for Duchenne and were relieved to find out that he doesn't have the genetic mutation.

As they wait for new treatment options to become available, the Jancickas remain hopeful that Noah will be part of the first generation of Duchenne patients to survive the disease.

"I just keep pushing forward," Leah said. "You have to be strong and believe that something is going to come."