Four-Year-Old Harlow Prado Receives Groundbreaking Gene Therapy

When Harlow Prado woke from anesthesia after receiving life-saving gene therapy on October 15, 2023, her first words were, “Mama, can I walk yet?” The four-year-old girl from Southern Illinois has been diagnosed with TUBB4A-related leukodystrophy, a rare brain disorder impacting her motor skills. Until now, Harlow relied on a walker and attended eight therapy sessions each week. However, this pioneering treatment marks a significant step toward her dream of walking independently.

Harlow’s mother, Daphne Graskewicz-Prado, expressed her determination not to accept the terminal diagnosis doctors initially provided. Speaking from her daughter’s hospital bedside, she stated, “I wasn’t going to accept the terminal diagnosis. I knew there had to be a way to fight for her.”

Understanding TUBB4A-Related Leukodystrophy

TUBB4A-related leukodystrophy stems from a mutation in the TUBB4A gene, which plays a crucial role in producing a protein that protects the myelin sheath surrounding nerve cells. Myelin is essential for the efficient transmission of electrical signals in the brain and body. When the gene is defective, myelin integrity deteriorates, leading to significant neurological issues, including muscle weakness and movement difficulties.

According to Alex, The Leukodystrophy Charity, the condition often presents a diagnostic challenge due to its rarity and varying symptoms. Advanced genetic testing is necessary for accurate diagnosis, as there is currently no cure. Children with severe forms of the disorder often face life expectancies limited to their late teens or early twenties.

Graskewicz-Prado first observed signs of Harlow’s condition when she was just 15 months old. “I knew something was wrong,” she recounted. Harlow could pull herself up on furniture but could not stand or take her first steps. Initial assessments pointed to cerebral palsy, but an MRI scan revealed reduced myelin in critical brain areas, indicating a more severe condition.

After a long wait for a neurology appointment, the family sought help from a pediatric neurologist located three hours from their home. In July 2023, genetic testing confirmed the diagnosis. “We were told to get therapy while we have her,” Graskewicz-Prado said, recalling the doctor’s bleak prognosis. The only hope she received was a mention of a nonprofit organization that could assist in finding treatments.

Pioneering Treatment Offers New Hope

Two months following the diagnosis, n-Lorem, a nonprofit organization based in Carlsbad, California, agreed to help develop a personalized therapy for Harlow. n-Lorem specializes in creating experimental treatments for ultra-rare genetic disorders, funding lifelong access to antisense oligonucleotide (ASO) therapies for patients with unique mutations affecting fewer than 30 individuals globally. These ASOs are engineered to target specific genetic defects, offering a tailored approach to treatment.

To proceed with the therapy, Harlow’s family needed to raise $100,000 to cover associated costs. In August 2024, they relocated to Temecula, California, and launched a crowdfunding campaign. Within four days, they exceeded their fundraising goal, enabling Harlow to receive her first treatment.

Reflecting on their journey, Graskewicz-Prado expressed gratitude for the support they received. “When I got her diagnosis, I had this audacious thought—and through grit, love, support, and luck, we did it,” she said. “I can’t wait to see her take the world by storm now that she’s had this medicine.”

Less than a week post-treatment, Graskewicz-Prado noted subtle improvements in Harlow’s condition, including reduced hand tremors and less foot dragging. Amy Williford, Ph.D., the Executive Director of Communications and Donor Relations for n-Lorem, confirmed that Harlow is the second person worldwide to receive this medication and the first female recipient.

n-Lorem is committed to ensuring that patients are not burdened with the cost of their treatments, offering all research and development efforts free of charge. Williford emphasized the organization’s mission: “Harlow represents the reason that n-Lorem was formed in 2020. We are not focused on a particular disease or gene but rather on a patient population that is severely affected and in need of medicine.”

Aspirations for the Future

Despite her challenges, Harlow has shown a remarkable spirit. Her mother describes her as “an incredible little person with a big spirit,” highlighting the joy and determination Harlow embodies. “My job as a mom is to give her the medicine, treatment, and therapy she needs so she can live the life she wants. The only thing holding her back is this condition.”

In a bid to broaden access to treatment, Graskewicz-Prado co-founded the Kinslow TUBB4A Foundation, advocating for equitable treatment options for all children with TUBB4A mutations. “My dream is to make this treatment available to every mom,” she stated. “We’re blessed to have this opportunity—I want other families around the world to have it too.”

This journey illustrates not only the challenges faced by those with rare conditions but also the power of community support and innovative medical advancements. As Harlow embarks on a new chapter in her life, her story inspires hope for many families navigating similar paths.