For 35 years, Norah Awad has lived with beta thalassemia major, a severe blood disorder that has required monthly transfusions since she was just three months old. But earlier this year, she embarked on a transformative journey at Loma Linda University Health, the first hospital in Southern California to deliver ground-breaking FDA-approved gene therapy. Now, as she nears the crucial 100-day post-treatment milestone, she and her father, Waddah Awad, are celebrating her normal hemoglobin levels and not having to receive recurring red blood cell transfusions.

“I'll be there for her until my last breath. As long as I have a breath in me, I will be by her side, and I insist on leaving this Earth before her," he said.

Awad was diagnosed with beta thalassemia major at just three months old after her parents noticed her skin turning yellow and excessive crying. What they initially thought was jaundice turned out to be a life-altering condition requiring constant medical intervention and the risk of fatal organ damage. For over three decades, monthly blood transfusions and iron chelation therapies were the only treatments available, as options like bone marrow transplants proved too risky.

Her devoted father, tirelessly searched for solutions, even consulting international experts and pioneers in thalassemia transplants. Despite various attempts, nothing seemed to offer a viable cure. Then, they learned about gene therapy.

Gene therapy is a personalized treatment that involves engineering a patient's own blood stem cells to correct the disease at the gene level. Similar technology is used to treat cancers such as leukemia, lymphoma, and myeloma using patients’ own immune cells. This technology is being used and researched to treat other forms of blood diseases and cancers in the future. These technologies are offered at the Cancer Center for various diseases for children and adults where engineered receptors enable T-cells to recognize and bind to specific proteins on the surface of cancer or diseased cells.

“This new therapy is a life-changer for beta thalassemia patients, who have required cumbersome, expensive, and lifelong monthly blood transfusions,” said Hisham Abdel-Azim, MD, division head of transplant and cell therapy/hematological malignancies at the Cancer Center. “The main reason gene therapy is so exciting is that each person is their own donor. We don’t have to look for a brother or sister or alternate donor – we can use the patient’s own blood stem cells, and this leads to a relatively milder short course treatment.”

When Awad first heard of it, the therapy was still awaiting FDA approval. But she remained undeterred, pushing her doctors to explore every possible avenue. Her persistence paid off when she connected with LLUH’s team.

“She pushed for it hard,” her father said. “Some doctors said treatment didn’t exist for patients like her, but she wouldn’t take ‘No’ for an answer. She knew this was her chance.”

At LLUH, complex conditions are approached with a multidisciplinary disease teams’ approach to deliver treatment. “It takes a village of experts, including physicians, nurses, and specialized clinical and administrative teams to provide this complex therapy,” Abdel-Azim said.

Awad is the first noncancer patient to receive gene therapy using her own cells at LLUH.

Though she faces post-treatment challenges, this gene therapy treatment can result in a complete and permanent cure of the disease. Just weeks later, her hemoglobin levels are stable, and her cells are producing corrected hemoglobin rather than the defective hemoglobin that caused her disease, meaning for the first time in her life, she’s gone longer than a month without needing a red blood cell transfusion.

“The goal is that she can live a normal life,” her father said. “Her blood is doing its job on its own.”

Throughout the process, he has been by Awad's side, ensuring she eats, making sure she takes her medications, and staying on top of her recovery. “He never missed a day at the hospital,” Norah said. “I can’t do this without him.”

While the journey has been arduous, the Awads want their story to inspire others facing similar struggles.

“It’s a hard journey, but it’s 100% worth it,” Norah said. “The goal is to come out with the healthiest life you’ve ever had.”

For her, the dream is simple: to feel better and go home. As she pushes forward, she stands as an inspiration for others considering gene therapy.

“The older you get, the more the disease takes a toll,” Norah said. “If you have the opportunity, take it.”

As they look ahead to the 100-day mark in May, one thing is clear: the therapy is working. And for the Awads, that means everything.

The Loma Linda University Cancer Center is the only center in the Inland Empire and Desert region that provides advanced cancer treatments. The institution provides various cutting-edge FDA approved and experimental gene and CAR T therapy for patients with non-malignant and malignant blood disease as well as solid tumors. LLUCC is FACT accredited and is designated a center of excellence by the California Department of Health for Cell Therapy with various modalities and indications.

Norah's medical and administrative care team

Photo: LLUH

Lollipops help with unique flavors, often described as tomato sauce, that patients taste during infusion

Photo: LLUH

The original article was published on the Loma Linda University Health news site. Follow ANN on social media and join the ANN WhatsApp Channel for the latest Adventist news updates.