Francis Saputra was diagnosed with perinatal severe hypophosphatasia before his birth on February 3, 2025. This rare genetic disorder prevents the body from mineralizing calcium, resulting in soft bones and teeth. The most severe form affects about one in 300,000 births and is usually fatal without immediate treatment.
His parents, Albert and Liviera Grace Saputra, had previously lost a child to the same disorder. Genetic testing revealed both were recessive carriers of the condition. Their daughter Gianna, born in April 2020, did not have signs of the disorder.
During Liviera Grace’s pregnancy with Francis, ultrasounds showed shortened limbs. After consulting Dr. Deborah Krakow at UCLA Health, who has expertise in genetics and genomics, Francis was diagnosed prenatally with perinatal severe hypophosphatasia at around 26 weeks gestation.
Dr. Krakow explained that early diagnosis is uncommon: “It’s so rare that if you’ve never seen it, you don’t immediately recognize it.” She added that time is critical for babies with this condition: “There’s now treatment available, but it’s still a very arduous course… This was one of those cases where there were no promises.”
UCLA Health coordinated a multidisciplinary team to prepare for Francis’ birth and immediate care needs. Nurse practitioner Lauren Mackenzie Mason secured enzyme therapy for use right after delivery—a process typically reserved for outpatient settings. The neonatal intensive care unit (NICU) prepared specialized respiratory support and equipment to protect Francis’ fragile bones.
Dr. Kiran Kavipurapu agreed to manage Liviera Grace’s high-risk delivery by cesarean section at Ronald Reagan UCLA Medical Center while Dr. Krakow stood by to begin postnatal care quickly.
After birth, Francis received enzyme replacement therapy within two hours—believed by his doctors to be the earliest such intervention recorded for this disease at UCLA Health. Initially reliant on a ventilator and feeding tube due to skeletal weakness and chest deformities impeding breathing, he gradually gained strength through continued enzyme shots three times weekly.
By one month old, his parents could hold him without extra support; by two months he no longer needed ventilation but required weaning off pain medications under guidance from UCLA neonatologists.
The family made daily trips from Alhambra to visit Francis during his NICU stay—a journey often lasting up to two hours each way—with support from Child Life Specialists who engaged both siblings during visits.
On May 3—three months after birth—Francis was discharged home. His parents now administer his ongoing enzyme injections and continue therapies for feeding and development as recommended by specialists at UCLA Health’s Skeletal Dysplasia Clinic.
Liviera Grace noted improvements: “His transformation is nothing short of incredible… Every week we see changes — he’s more alert, stronger and more active.” At five months old he began rolling over; on August 11 he underwent surgery to replace his nasogastric tube with a gastric tube for direct stomach feeding as part of ongoing therapy efforts.
Francis will continue lifelong enzyme therapy along with regular follow-ups involving pediatric gastroenterology, nephrology (to monitor kidney health), endocrinology (for growth monitoring), and routine visits with Dr. Krakow every three months initially.
Dr. Krakow continues personal follow-up calls weekly: “He’s been remarkable… 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.”
