A baby born at UCLA Health earlier this year is showing significant improvement after receiving immediate treatment for a rare and typically fatal genetic disorder. Francis Saputra, diagnosed prenatally with perinatal severe hypophosphatasia, began enzyme replacement therapy within two hours of birth at Ronald Reagan UCLA Medical Center. According to his doctors, this is likely the earliest such intervention for the condition.
Francis’ parents, Albert and Liviera Grace Saputra, previously lost a child to the same disorder in 2019. Genetic testing revealed both parents as recessive carriers. Their daughter Gianna, born in 2020, did not have the disorder. During Liviera Grace’s pregnancy with Francis, ultrasounds indicated shortened limbs—a sign that led her to seek out Dr. Deborah Krakow at UCLA Health.
“It’s so rare that if you’ve never seen it, you don’t immediately recognize it,” said Dr. Deborah Krakow, assistant dean of genetics and genomics and UCLA Health’s chief genomic officer, and professor of orthopedic surgery and human genetics at the David Geffen School of Medicine at UCLA.
Dr. Krakow confirmed the diagnosis around 26 weeks into the pregnancy and stressed the need for rapid postnatal treatment. “I told her, ‘There’s now treatment available, but it’s still a very arduous course,’” Krakow said. “This was one of those cases where there were no promises.”
Enzyme replacement therapy has been available for several years but requires prompt administration after birth to be effective in severe cases like Francis’. The missing enzyme, alkaline phosphatase, is necessary for bone mineralization; without it, infants can experience profound skeletal weakness that impairs breathing.
UCLA Health assembled a multidisciplinary team before delivery to prepare for Francis’ care. Nurse practitioner Lauren Mackenzie Mason helped secure the medication for in-hospital use. The Neonatal Intensive Care Unit prepared specialized respiratory support and equipment to protect Francis’ fragile bones.
Dr. Kiran Kavipurapu managed Liviera Grace’s high-risk delivery by cesarean section with Dr. Krakow present to begin immediate care for Francis.
After birth on Feb. 3, 2025, Francis received his first enzyme shot following stabilization and baseline testing. “I’ve never treated anyone at two hours of age; I don’t think anyone’s ever treated someone at two hours of age,” Krakow said.
Initially requiring ventilation and tube feeding due to fragile bones and weak muscle tone, Francis gradually improved with ongoing therapy. By one month old his parents could hold him without special support; by two months he was off the ventilator.
“Every step of the way,” she said, “the UCLA team stood beside us.” Francis’ primary nurses in the NICU — Josie Sunga, Liz Blackwood, Katie Haugh and Ivonne Alonzo – “didn’t just care for Francis, they cherished him.”
Francis was discharged from UCLA Health three months after birth. At home he continues enzyme shots administered by his parents and receives occupational and physical therapy to aid development.
“His transformation is nothing short of incredible. His bones are stronger and his X-rays have improved significantly,” she said. “Every week we see changes — he’s more alert, stronger and more active.”
Francis will continue follow-up care with multiple specialists including pediatric gastroenterology, nephrology (to monitor potential kidney side effects), endocrinology (for growth), as well as regular visits with Dr. Krakow at UCLA’s Skeletal Dysplasia Clinic.
“He’s been remarkable,” Krakow said. “It’s shocking how much better he is. I believe he’s going to be this lovely, normal child — I’m excited to see him just be a little boy.”
