Orland Park Parents In Fight For Medication That Saved Their Infant Son

ORLAND PARK, IL — An Orland Park mom is in a desperate fight to secure more of a medication that saved her son's life.

Nour Shaban's son Adel has Barth syndrome, a rare and life-threatening mitochondrial disease. Doctors diagnosed him at just 5 weeks old, when he suffered acute heart failure, went into cardiac arrest, and was placed on an oxygen support system as his heart faltered.

Since then, one medication has been essential in improving Adel's condition—and the family risks losing access to it as it awaits FDA approval. The FDA has delayed approval of the drug elamipretide for years, Shaban said, and now families like hers might not have it as soon as September.

"... One of the only treatments that has truly helped him since is a drug called elamipretide," Shaban shared in a social media plea. "It’s not a cure, but it has made a real difference in his strength, energy, and heart function. It gave us hope when there was none."

Barth syndrome currently has no FDA-approved treatments, according to the Barth Syndrome Foundation, MitoAction and United Mitochondrial Disease Foundation. Elampretide has been studied as an investigational therapy for Barth syndrome and other conditions of mitochondrial dysfunction.

The family has been receiving the drug for free, and for a set period of six to nine months. It needs to be approved within that timeframe, Shaban said, in order for Adel to keep taking it. The difference in Adel since being on the medication has been significant. His heart function has improved from 10 percent in March, to 55 percent in June.

"He’s not going back into acute heart failure," Shaban said. "He’s not having respiratory distress. That’s the main thing I’ve seen improve with him."

'We're just trying to get our voices heard'

Adel first showed signs of illness at just two weeks old, his mother said. It first surfaced as nasal congestion. Twice, she and husband Ommar Mohammed took their son to Advocate Christ Medical Center for answers.

"They weren’t sure what it was when we took him to the ER," Shaban said.

All blood work and X-ray images came back clear, further stumping the family and doctors. Doctors said it was a viral respiratory infection, and sent the family home.

At his one-month visit with the pediatrician, initially, the doctor didn't seem concerned about his nasal congestion and respiratory infection.

After that visit, though, Adel was lethargic and not drinking enough milk. His cry was weak, and he wasn’t urinating enough, an indicator of dehydration. He looked very yellow. His skin showed mottling, or a bluish-red, lace-like pattern on the skin caused by disrupted blood flow to small blood vessels, according to the Cleveland Clinic. They went back to his pediatrician.

"'Your baby's very sick,'" Shaban remembers hearing.

From there, EMTs rushed Adel back to Advocate Christ Medical Center, where Shaban said they set to work to save her son.

"We were so grateful they were able to take us to Christ," Shaban said. "There were a dozen or two medical workers working on him."

His heart stopped, and he was intubated. He was then placed on ECMO—Extracorporeal Membrane Oxygenation, known as life support for the heart and lungs—for a week or two. He was diagnosed with Barth syndrome, a rare, life-threatening genetic disorder, which primarily affects males. It occurs in approximately 1 in 300,000 births, Cleveland Clinic reports, and is usually diagnosed in early infancy or childhood, according to the National Organization for Rare Disorders.

"During ECMO, his heart function would get better day-by-day," Shaban said. "Medications helped take the stress off his heart."

Three weeks into Adel's ICU stay, he began receiving elamipretide.

"His heart function was getting better," Shaban said.

The drug was making a difference.

Fight against time

Made by the pharma company Stealth BioTherapeutics, the drug has faced hurdles within the federal agency. Specifically, the company has been instructed to resubmit their NDA, or new drug application. The NDA application is the vehicle through which drug sponsors formally propose that the FDA approve a new pharmaceutical for sale and marketing in the U.S., according to the FDA website. The drug also needs to be specifically approved for use in infants, Shaban said.

"They want to exclude babies, and that’s who it impacts most commonly," Shaban said, of Barth syndrome.

A typical six-month FDA review process for the drug has now breached its 19th month.

"After years of delays and battles for approval, the company behind the drug is now on the verge of bankruptcy," Shaban said. "And unless something changes, Adel and other patients will lose access to this life-saving drug as early as September."

The company's investors have said they cannot continue to guarantee funding for the company, foundations calling for support said in a release.

"These unanticipated and continual delays have reduced their confidence in future expediency by FDA."

"We are pleading with those in power to intervene and overturn the CRL or, if absolutely necessary, grant a 2-month approval review," wrote the Barth Syndrome Foundation, MitoAction and United Mitochondrial Disease Foundation. "Individuals with Barth syndrome and the broader mitochondrial disease community are being denied the right to try."

Shaban is asking for the public to share Adel's story, in hopes of reaching those in control of the drug's future.

On social media, she asks that the public ask the FDA to approve now or approve fast to avoid disrupting elamipretide access.

Relevant hashtags to use and accounts to tag include: #approveelamipretide #barthprogress #fdaactnow #barthsyndrome#raredisease The White House Rare Disease Legislative Advocates S. Department of Health and Human Services U.S. Food and Drug Administration @drmakaryfda @hhsgov @seckennedy

Shaban and parents like her also encourage people to fill out on an online form that generates a letter to the person's respective legislators, calling for the approval of the medication.

"Everybody who’s taken the drug, they’re doing better, they’re living the life they always dreamed of," Shaban said.

"We can’t afford to be silent. Adel’s life — and the lives of others like him — depends on continued access to this drug. This isn’t just about a treatment. This is about my child. It’s about Adel. It’s about giving him the chance to keep fighting."