By John Chambless
Staff Writer

The world came crashing down on Joanna and Paul Johnson on June 1, 2007 with the news that their 5-year-old son, Elliott, had Duchenne muscular dystrophy. About a month later, their younger son, Henry, got the same diagnosis.

“It was pretty horrific,” Joanna recalled last week during an interview at the family's home. “The doctors said there's no cure, most don't survive past age 30. You're looking at them being wheelchair bound in their teen years, followed by severe respiratory and cardiac complications. It was horrible. But on the day we got the diagnosis, they said, 'We're giving you the worst possible news, but we also have the best possible news we could tell you: There is a drug trial coming up.'”

 Elliott, now 12, started in the initial study of Ataluren in 2008 and continued until 2010. Henry was too young at the time to participate. Elliott went back on the drug in 2012 and Henry was old enough to start in 2014. Both boys have since been on the therapy continuously. Joanna credits the drug – mixed with water and taken three times a day – for slowing the muscle deterioration associated with Duchenne in both her sons.

While the boys are small for their age, both can still walk, and Henry, 10, is able to “run around in the front yard, kicking a soccer ball,” Joanna said. But both boys tire easily, and Elliott sometimes needs to use a mobility scooter.

Elliott quietly described Duchenne as having “lack of energy all the time. I get tired pretty easy.”

Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting about one in every 3,500 male births – about 20,000 cases each year, worldwide. The Duchenne gene is found in the X chromosome, so it primarily affects boys. Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin, a key muscle protein. In the absence of dystrophin, muscle cells are easily damaged. The weakness leads to inability to walk, and damages the heart and lungs. Most young men with Duchenne don't live past their late 20s. There is no cure.

Duchenne can be hereditary, but about 35 percent of cases occur due to a random mutation, called a “nonsense mutation.” Elliott and Henry are in that 35 percent.

Joanna is a Spanish teacher at Unionville High School, and the community has rallied for the Run For Our Sons, a race which has raised more than $300,000 in seven years for the support and advocacy group Parent Project Muscular Dystrophy.

But it's the availability of Ataluren through the clinical trial that has allowed her sons to cope so well with Duchenne, Joanna said. “Initially, the safety study had a small group of maybe 12 patients in the United States. After that, it was a large, multi-site clinical trial with locations in the U.S. and throughout the world,” she said.

With an infusion of federal money for research into muscular dystrophy, there are now more than 20 therapies in clinical trials, Joanna said. PTC Therapeutics, Inc., makes Ataluren, but the company has hit a roadblock since the FDA has issued a statement saying “they are not looking at the drug company's application” for the drug, essentially putting Ataluren on a back burner, Joanna said.

She said PTC Therapeutics has been very supportive, but “if the drug doesn't get FDA approval, I don't know how long they're going to be able to afford to keep this going and provide access. I assume at some point they will stop making it. They have been very committed to us, but there's a financial reality there.”

Presently, the drug – and daily doses of corticosteroids – are the only things keeping Elliott and Henry from suffering the rapid declines that other boys with Duchenne experience.

“The steroid does seem to give some kind of benefit, but there are a lot of horrible side effects. They're both pretty small for their age, and brittle bones is a problem,” Joanna said. But she has nothing but praise for Ataluren. “In 12 years, there have been zero side effects,” she said. “At 12, with Duchenne, Elliott should have lost ambulation at this point. He sees a lot of his friends like that when he goes to camp.”

Having met other families grappling with Duchenne, Joanna said, “this is a rare disease, but there is an unmet clinical need. We don't have the luxury of time. Every day, my sons are losing functions. I'm lucky that they are in the trial and are seeing some benefits, but I want this benefit for every person who has a nonsense mutation. The FDA needs to review this application as soon as possible.”

The drug company is appealing the FDA decision, and parents worldwide are fighting to have their voices heard.

Joanna said she and her husband have become advocates “because we don't have a choice. As parents, we do not have time. This is my whole world. We've done a lot to fight this, and it's frustrating as a parent. You think, at the beginning, that the hardest thing was going to be coming up with a treatment. But to find out that the hardest thing has been the FDA is very frustrating.

“This is for my kids, but it's always been bigger than Elliott and Henry,” she continued. “My husband and I have felt strongly that it's about the future of every young boy who has Duchenne. Even slowing down the progression of Duchenne is hugely meaningful.

“I would love to see the day when a parent can go to a doctor's office and rather than get the horrific news that we got, to hear, 'This is bad news, but there's a treatment available.' That's my ultimate goal. I want hope for myself, and for other parents.”

For more information, visit www.parentprojectmd.org.

To contact Staff Writer John Chambless, email [email protected].