Girl With Duchenne Waits for Life-Changing Drug, Eteplirsen, To Gain FDA Approval
August 1, 2015
Susie Arroyo knows she is an anomaly.
The 25-year-old Pendleton woman has a genetic mutation called Duchenne Muscular Dystrophy, a muscle-killing disorder that overwhelmingly affects boys. A female has a one in 50,000,000 chance of having the mutation, compared to a male’s one in 3,500. Getting hit by lightning (with odds of about 1 in 280,000) is much more likely. Literature about the disorder often mentions only boys.
Her muscles started weakening in childhood. Her heart steadily deteriorated. Five years ago, she started using a wheelchair full-time.
Arroyo tried to join a drug trial limited to males but was rejected. She’s got her eye on one drug, Eteplirsen, which has been in the final stage of trials for more than three years.
“This medication would be a game changer,” she said. “All of the people in the trial have maintained their health and some have improved. A boy back east regained the use of his arms. Another was able to get out of his wheelchair.”
As Arroyo ages, her condition gradually worsens. Waiting for the U.S. Food and Drug Administration to approve the medication is excruciating.
“Every day, there’s damage that can’t be undone,” she said.
Arroyo, a 2012 Blue Mountain Community College graduate, carries on despite her condition. She expects to graduate from Eastern Oregon University with a teaching degree in spring 2016.
A special pump implanted in her chest in 2013 gives her some relief. The left ventricular assist device “does 90 percent of the heart’s job.”
Afterward the surgery “I was a completely different person,” she said. “For once, my extremities were warm. My fingernails had been gray from lack of oxygen. Now they are pink. I have more energy.”
Still, so much depends on the approval of Eteplirsen. The process, she said, moves at a glacial pace while people with Duchenne get sicker. Arroyo wrote a letter to the FDA to remind them that there are females with Duchenne and encourage them to expedite approval of the drug.
“Congress has given the FDA the tools it needs to expedite the approval of drugs like Eteplirsen for patients just like me with rare deadly disorders that have no current treatment options,” Arroyo said. “The Catch-22 for the manufacturer of the drug, from my perspective, is that while the FDA has been slow to start using the accelerated approval pathways, there are hundreds if not thousands of Duchenne patients like me hoping and praying to wake up one day and read that this drug has been approved.”
Arroyo communicates with other Duchenne patients via social media. She knows three other females in Oregon who have the disorder.
Last summer she met Scott Griffin, who testified in his home state of Alabama to allow terminally ill patients access to medicines that pass phase one of the FDA approval process. His 10-year-old son Gabe has Duchenne. Griffin was on a team supporting two cyclists riding across America to put a spotlight on the disorder. One of the cyclists, Michael Staley, is a former congressional chief of staff who heard Griffin speak. The other, Wes Bates, a freshman at Indiana State University, lost a close friend to the disorder.
“It touched their hearts,” Arroyo said. “They took the summer off from work to ride their bikes across the country and raise awareness.”
Griffin and two other volunteers met Arroyo at Pendleton City Hall when the team reached Pendleton.
“They had never met a girl with Duchenne,” she said.
She became friends with Staley through social media, though she hasn’t met him personally. Staley encourages people to tell the FDA what they think about drug development by sending comments to www.regulations.gov.
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