A baby diagnosed with a rare and typically fatal genetic disorder before birth has shown significant improvement after receiving immediate treatment at UCLA Health, according to the medical team involved in his care.
Francis Saputra was born on February 3, 2025, with perinatal severe hypophosphatasia, a condition that affects about one in 300,000 births. The disorder prevents proper bone mineralization due to a deficiency of alkaline phosphatase, leading to soft bones and potentially life-threatening complications. Francis began enzyme replacement therapy within two hours of birth, which doctors at UCLA Health believe is likely the earliest such intervention for this disease.
Dr. Deborah Krakow, assistant dean of genetics and genomics and chief genomic officer at UCLA Health, said the rarity of the disorder can make diagnosis difficult. “It’s so rare that if you’ve never seen it, you don’t immediately recognize it,” Krakow explained.
Francis’ parents had previously lost a child to the same disorder before learning they were both recessive carriers through genetic testing. When signs of skeletal abnormalities appeared during Liviera Grace Saputra’s pregnancy with Francis, she sought out Dr. Krakow for specialized care.
Krakow coordinated a multidisciplinary team to prepare for Francis’ delivery and immediate postnatal care at Ronald Reagan UCLA Medical Center. Special arrangements included securing enzyme therapy for hospital use and preparing respiratory support and protective equipment for Francis’ fragile bones.
Following his birth by cesarean section, Francis received his first dose of enzyme therapy after stabilization and baseline testing. According to 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.”
Initially requiring ventilation and tube feeding due to weak bones and muscle tone, Francis gradually gained strength through ongoing enzyme shots administered three times weekly. By one month old he could be held without special support; by two months he was breathing independently.
UCLA Health neonatologists collaborated on his complex care plan as he transitioned off pain medications. The family made daily trips from their home in Alhambra to visit him in the NICU while also receiving support from UCLA’s Child Life program.
On May 3 — three months after birth — Francis was discharged home. His parents now continue administering his enzyme shots and supplementing feedings as he works toward developmental milestones with occupational and physical therapy.
Liviera Grace Saputra noted improvements: “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 continues under close follow-up by multiple specialists at UCLA Health for ongoing monitoring related to feeding, kidney health (due to potential side effects from treatment), growth tracking, and regular visits with Dr. Krakow at the Skeletal Dysplasia Clinic every three months.
Krakow maintains contact with the family: “He’s been remarkable,” she 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.”
