Girl from Rowlett potentially leading the way in treatment for uncommon genetic condition
Rewritten Article:
Little Marley Mansour, merely ten-years-old, is a baseball enthusiast with a quirky fashion sense - rocking a vibrant tutu for every game she plays. Apart from her love for the sport, she adores bubbles and church, with "pizza pie smothered in pepperoni" being her favorite grub.
As an infant, Marley struggled with her weight, and walking was a challenge. She had frequent falls, seizures, and vomiting almost every meal. Her distressing situation led her parents down a long and lonely road filled with countless doctors and specialists, but without any answers.
Finally, when Marley was nine, genetic testing revealed a shocking revelation: She had a mutation in a gene known as NARS1. This gene plays a crucial role in central nervous system protein production, a condition only identified in 2020.
"There wasn't a roadmap, I didn't know the resources yet, and I didn't know the places to look," said Marley's mother, Kayla Mansour, reflecting on the nine-and-a-half-year-long wait. "It was quite the journey, to be honest," she added.
A NARS1 mutation can result in developmental delays, such as speech impediments. Those affected may also suffer from seizures, intellectual disabilities, and nerve issues. Marley is among the approximately 100 known individuals worldwide to have the condition.
Upon receiving Marley's diagnosis, doctors informed her mother that there was no cure. Despite this, Marley was already receiving physical, occupational, and speech therapy, swimming lessons, and consulting neurologists while exploring every potential treatment available.
However, Kayla Mansour's determination led her to a nonprofit organization focused on devising individual treatments for rare diseases. Later this year, Marley might become the first person worldwide to receive personalized therapy tailored to her disease.
Dr. Kaitlin Batley, Marley's doctor and the pediatric neuromuscular neurologist at UT Southwestern and Children's Health in Dallas, explains the treatment. "This therapy modifies the NARS1 gene, enabling Marley to produce the necessary protein products that she lacked earlier," Batley says.
This therapy has been developed for a variety of diseases but has yet to be used on Marley's specific genetic mutation. Batley believes this development represents a step forward for the medical community, opening doors for personalized medicine.
Marley will require periodic spinal injections for the rest of her life, with the hope that the treatment will slow the progression of her disorder. Her mother acknowledges the uncertainty regarding the treatment's effectiveness, pointing out, "I've never given my child an antibiotic. Here I am, planning to infuse an experimental medicine into her spine."
Marley's father, Jonathan Mansour, expresses their excitement about the breakthrough treatment, despite the apprehension. "We're a bit nervous, but for the greater goal, I think it's a good thing for us and a lot of other kids," he says.
Although the medication is free, the administrative costs aren't. The family has established a support registry in Marley's name, aiming to raise up to $100,000 to cover the expenses. "Insurance won't cover the costs because it's experimental for a couple of years. We have to navigate these uncertainties, and now, we're facing a six-figure burden to improve our daughter's life," Kayla Mansour explains.
Marley is the eldest of three siblings, and her parents have chosen not to inform any of their children – including Marley – about her condition. Instead, they focus on their children's childhood, hoping one day Marley would understand the battles she has overcome.
Olla Mokhtar is KERA's news intern. If you have a tip, you can reach her at [email protected].
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- The medical community may find a breakthrough with personalized medicine as Marley Mansour, a ten-year-old with a rare genetic condition, might become the first person worldwide to receive a tailored treatment for her disorder.
- Kayla Mansour, Marley's mother, is reaching out to the community for financial support to cover the administrative costs of the experimental treatment, aiming to raise up to $100,000.
- This treatment, developed for various diseases, modifies the NARS1 gene, allowing Marley to produce the proteins her body is currently lacking, potentially slowing the progression of her chronic disease.
- Fitness, therapy, and mental health all play significant roles in Marley's life, as she navigates her health and wellness journey, despite the challenges brought on by her medical condition.
