A girl was diagnosed with NARS1 after having difficulty speaking may finally have a chance to live.



For nearly a decade, Marley Mansour, 11, struggled with unexplained symptoms — difficulty speaking and problems with movement — while medical specialists were left puzzled.

Her parents, Jonathan, 43, a brand manager, and Kayla, 40, a marketing manager, both from Rowlett, were desperate for answers.

With guidance from Rachel Heilmann, who lost her own daughter to the same condition, Marley is now a candidate for a cutting-edge, personalized therapy.

The treatment was developed by n-Lorem, a non-profit that specializes in personalized medicines to treat patients with rare diseases.

Kayla said "it was all out of chance" she went on Facebook the day of Marley's diagnosis and found Rachel through a NARS1 group."

Rachel is president of the Rory Belle Foundation — a nonprofit supporting families affected by NARS1.

While the treatment itself is free, her family must raise $100,000 to cover hospital costs as they fight for a brighter future.

Medicine is free for life but the two-year clinical trial, the administrative side.

Doctors will administer antisense oligonucleotide (ASO) treatment to target and regulate RNA molecules within the body.

"They just basically said, ‘This is what it is. We don't know anything about it. There's no cure. There's no treatment and here's a piece of paper. Good luck.' And that's kind of where we left," Jonathan said."

Marley's condition, NARS1 deficiency, is so rare that fewer than 100 people worldwide are known to have it.

The disorder disrupts the body's ability to build proteins, leading to neurological and developmental challenges.

For Marley, it has meant a childhood marked by silence and struggle. But just when hope seemed out of reach, her family received a lifeline after finally getting a diagnosis.

"Within one month, Rachel with the Rory Belle Foundation said, ‘Hey, I think we've got a treatment option,'" Kayla said. "

Rachel Heilmann, 42, a former clinical pharmacist from Denver, Colorado, lost her 17-month-old daughter, Rory, to the same disorder.

"Hope wrapped in tragedy is Marley's story and Rory's story and so many others," Rachel said. "We must celebrate the wins with each other and mourn our losses together."

Kayla added: "It's sad to know that a little girl had to die, so something good could come and be created for so many other families. So we're so grateful for Rory Belle."

Rachel's knowledge and empathy became a guiding light for the Mansours.

"Rachel probably knows more about NARS1 than anyone in the world," Jonathan said."

She was the first person I talked to the day we got our diagnosis and she told me more than the hospital told me."

For Rachel, the mission is deeply personal.

"All our stories are hope wrapped in inextricable tragedy. The opportunity for Marley to have a chance at n-Lorem personalized therapy comes at the price of Rory's death," she said."

The Rory Belle Foundation's motto, "Joy for today and Hope for tomorrow," reflects the spirit of families battling rare diseases."

"We want that laughter to turn into words and that joy to turn into running that doesn't stop. I want that for Marley and the other children accepted by n-Lorem," Rachel added."

Now, Marley is on the cusp of a medical breakthrough.

Her treatment, developed by the nonprofit n-Lorem Foundation, is a form of antisense oligonucleotide (ASO) therapy — an advanced method that targets her specific genetic mutation at the molecular level.

The therapy is designed to neutralize the faulty RNA so Marley's healthy RNA can function properly, potentially improving her communication and motor abilities.

The drug is infused into her spine every three to four months for the rest of her life. Because she's the first patient to receive ASO therapy for NARS1, it's unclear whether it will work and there is no success rate recorded.

But Kayla says it gives her "hope" that the treatment has worked on other people with rare genetic disorders."

"In the near future, Marley may receive a personalized investigational therapy that will be targeted to the specific change in the NARS1 gene that is causing her symptoms," Dr. Kaitlin Batley, 36, Marley's physician at UT Southwestern Medical Center in Dallas, explained."

Dr. Batley will administer the treatment by infusing it directly into Marley's spine.

"If effective, this therapy could improve gene expression and allow her to continue to grow and develop," she added."

"We will evaluate whether it may slow or halt progression of her neuropathy, prevent seizures from recurring, and improve her neurocognitive development and communication skills."

"Most importantly, we will assess whether this therapy and the technology used to create it has the potential to improve Marley's quality of life and impact the rare disease space by extending to treat other conditions as well."

While the drug itself is being provided free of charge by n-Lorem, the Mansours face a daunting hurdle: the high cost of hospital care.

The family needs to raise approximately $100,000 to cover administration costs for two years of clinical trials.

These funds will help pay for hospital expenses, monitoring, and specialized care during Marley's treatment.

Kayla and Johnathan, who share also share two sons, Maddox, 6, and Marshall, 4, have a large family to support.

Despite the challenges, Marley's light shines brightly.

"Marley is such a joy and so happy and has literally the best smile you have ever seen," Kayla said. "

"She's made us better people. She's made us stronger people. She's given us purpose and determination and grit."

Marley's SupportNow link: https://www.supportnow.org/marley-s-miracle

Rory Belle Foundation link: https://therorybellefoundation.org/