Family in Orland Park Advocates for FDA Approval of Drug for Barth Syndrome, a Rare Genetic Disorder

ORLAND PARK, Ill. (WLS) — A baby boy in the Chicago area is battling a rare disease and desperately needs a drug treatment for a better life. The drug has not been FDA approved, and it could disappear if it isn’t soon.

At issue is whether the U.S. Food and Drug Administration will approve the drug that is currently used to treat an ultra-rare disease called Barth syndrome. It’s so rare, the FDA has delayed its approval in part because the sample sizes are so low.

The pharmaceutical company that produces the drug has said it could go out of business. For one family in Orland Park, that could spell disaster.

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In his short life, Adel Mohammed has already been through so much. He was not much more than a month old when he was rushed to the hospital in respiratory distress.

“We’re just watching them trying to intubate him,” his mother Nour Shaban said. “While they are trying to intubate him, he went into cardiac arrest. We were just in shock.”

Mohammed was diagnosed with Barth syndrome, an ultra-rare genetic disease that affects mostly males. There are only about 150 cases diagnosed nationwide.

There are currently no FDA-approved drugs for Barth syndrome, but there is one that has been granted what is known as orphan drug status: Elamipretide. Mohammed has been getting daily injections of the drug for months now.

“Even his pediatrician says he’s a miracle baby,” Shaban said. “He’s able to sit up on his own. Lift his head up on his own. He’s showing things he should be delayed with.”

According to the Barth Syndrome Foundation, without treatment, sufferers will exhibit muscle weakness, heart failure and delayed growth. Most early deaths happen in infancy.

Unfortunately, Elamipretide’s status remains in limbo as the approval process has dragged on for years now.

“We don’t know how long he might live if he doesn’t have access to this medication,” Shaban said. “Like I’ll show you his echos. He went from 10% back in March to 55% currently. He’s close to normal. This drug does work. It does save lives.”

While a spokesperson for Stealth BioTherapeutics admitted Wednesday the company’s future is at risk if the FDA doesn’t act soon, they also said they’re committed to keeping their current patients on the drug, for free, for as long as they can.

Stealth BioTherapeutics did resubmit its new drug application to the FDA this week. The FDA indicated they may not have a decision for up to six months.