A baby born at UCLA Health earlier this year is thriving after receiving early treatment for a rare and often fatal genetic disorder. Francis Saputra was diagnosed with perinatal severe hypophosphatasia, a condition that affects bone development and is typically fatal without immediate intervention.
Francis’ parents, Albert and Liviera Grace Saputra, had previously lost a child to the same disorder. After learning they were both carriers of the gene responsible for hypophosphatasia, they sought specialized care when Liviera Grace became pregnant again. During her pregnancy with Francis, ultrasounds revealed abnormalities in limb length, prompting further investigation.
Dr. Deborah Krakow, assistant dean of genetics and genomics at UCLA Health and chief genomic officer, identified the disorder before birth. She emphasized the importance of quick diagnosis: “It’s so rare that if you’ve never seen it, you don’t immediately recognize it.” Dr. Krakow explained that missing alkaline phosphatase prevents proper bone mineralization: “Without the enzyme, ‘you can’t make these tiny crystals,’ she explained, ‘and the bone cannot mineralize calcium.’”
With careful planning from a multidisciplinary team at UCLA Health—including neonatologists, obstetricians specializing in high-risk pregnancies like Dr. Kiran Kavipurapu, and nurse practitioner Lauren Mackenzie Mason—Francis received his first enzyme therapy shot within two hours of birth. According to Dr. Krakow: “I’ve never treated anyone at two hours of age; I don’t think anyone’s ever treated someone at two hours of age.”
The infant required intensive support initially but responded well to ongoing enzyme replacement therapy administered three times weekly. By one month old his bones strengthened enough for his parents to hold him normally; by two months he no longer needed ventilator support.
The family credits UCLA Health staff for their dedication throughout Francis’ hospitalization: “Every step of the way,” said Liviera Grace Saputra, “the UCLA team stood beside us.” She described how nurses Josie Sunga, Liz Blackwood, Katie Haugh and Ivonne Alonzo provided not just medical care but also emotional support.
After three months in the neonatal intensive care unit (NICU), Francis was discharged home where his parents continue administering his treatments. He now receives occupational and physical therapy to aid feeding and development but is progressing well overall.
Liviera Grace noted improvements each week: “His transformation is nothing short of incredible. His bones are stronger and his X-rays have improved significantly,” she said. Despite some delays in reaching milestones such as rolling over—which he achieved at five months—his outlook remains positive.
Ongoing follow-up will include visits with various pediatric specialists at UCLA Health to monitor potential side effects from treatment as well as growth and nutrition needs. Dr. Krakow continues regular check-ins with the family: “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.”
