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Families in limbo after FDA rejection of new drug for muscular dystrophy

Parents Roberto Enriquez and Ashley Rassett pose for a photo with their children Gian, 3, and Talia, 2. Youssef Rddad / Forum News Service1 / 3
Parker Byrnes. Kari Byrnes / Submitted photo2 / 3
Gian Enriquez, 3, of Woodbury, Minn., sits on his father's lap while he plays on his tablet after a day at preschool. Youssef Rddad / Forum News Service3 / 3

WOODBURY, Minn. — Ashley Rassett and Roberto Enriquez want to give their son a fighting chance.

The Woodbury couple's 3-year-old son Gian was recently diagnosed with Duchenne Muscular Dystrophy, or DMD, a rare genetic disorder that leads to the weakening muscles over time.

The family had planned to treat their son's condition with a new drug called Ataluren, but a recent Food and Drug Administration rejection of the treatment has their family and others in limbo.

"As a parent, you're supposed to fix everything for your kids," Roberto Enriquez said. "You're faced with a challenge that may not have a solution to that problem."

At his age, Gian seems like a normal 3-year-old. He gets a big burst of energy when he comes home from pre-school, and he likes to run around the house and play with his younger sister, Talia.

DMD, and a similar condition called Becker's Muscular Dystrophy, affects about one in 7,250 males nationwide, according to the U.S. Centers for Disease Control and Prevention.

Most with DMD lose the ability to walk without a wheelchair by the time they're teenagers. Many don't live past their 30th birthday, a reality that's rocked the Woodbury family's life.

"Getting all that thrown at you in about 15 minutes' time was definitely something that was devastating," Rassett said, recalling the day Gian received a pre-diagnosis.

She said the little things like Gian being able to still walk on his own and upcoming milestones, like seeing Santa Claus next month, are more special.

"We know that potentially these memories we're making with him now are things we're going to look back on should his disease progress," Rassett said.

For Kari Byrnes of Moorhead, Minn., the news of Ataluren's rejection was difficult.

Her 10-year-old son, Parker, had been taking the drug for the past two years to treat DMD.

A recent TV broadcast showed an active Parker Byrnes brimming with energy as he rode his bike and played basketball — abilities most kids his age lose to the disease.

His mother said she attributes her son's ability to have a normal childhood to his treatment.

Since the disease progresses in people differently, patients with Duchenne often rely on treatments that slow the damage while they hold for newer and better treatments.

Recent advances in treating the illness have afforded people living with disease more time.

Roxan Olivas, a spokeswoman for the national Muscular Dystrophy Association, said researchers are finding and developing more new treatments than any other time in the past 50 years.

According to the association, some people with DMD have survived into their 40s and 50s.

But researchers have yet to find a way to completely stop or reverses the disease's damage.

Rassett and Enriquez have already noticed signs of deterioration in their son's muscles, which cause him to fall more often and make it difficult for him to pull himself up off the ground.

But Rassett said she worries about managing her son's condition with steroids — a common treatment for muscular dystrophy — because it can lead to weight gain and a heightened risk of diabetes, both of which can lead new complications.

Ataluren has few minor side effects, like headaches and stomachaches.

The drug's developer, New Jersey-based PTC Therapeutics Inc., is appealing the agency's decision. A second FDA rejection may see boys like Gian and Parker wait years for new treatments.

During the appeal process, patients would still be able to receive Ataluren through clinical trials.

In its initial decision, the FDA said it wanted more evidence about the drug's effectiveness.

Ataluren received expedited approval in the European Union, and the thought of uprooting her family has crossed Kari Byrnes' mind, she said.

"Our boys don't have time to waste," Byrnes said. "This will take their life and the more time we stay here and push this back is just taking cherished time from our kids."

The FDA will issue its consideration in the coming weeks.

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