Testing, monitoring and planning<\/p>\n
When the Saputras\u2019 first son was born in 2019 at a local hospital, prenatal ultrasounds showed that his limbs would be shorter than normal. Liviera Grace and Albert expected that he\u2019d have dwarfism. But the baby, John, actually had perinatal severe hypophosphatasia, which wasn\u2019t diagnosed until after he was born. He lived just 33 hours.\u00a0<\/p>\n
Both parents subsequently underwent genetic testing and found that they were recessive carriers for the disorder.\u00a0<\/p>\n
When Liviera Grace became pregnant again, she was monitored by a fetal maternal specialist. This time, though, all of the developing fetus\u2019 measurements were considered normal; daughter Gianna was born in April of 2020 with no signs of the disorder.<\/p>\n
![\"Woman,](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/08\/francis-family.jpg\" "\\"Newborn")
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Courtesy of the Saputra family<\/p>\n
Newborn Francis Saputra is welcomed by his family, from left, sister Gianna, mom Liviera Grace and dad Albert.<\/p>\n
During Liviera Grace\u2019s pregnancy with Francis, however, ultrasounds revealed that he had shortened limbs, and that the condition was becoming more pronounced as he grew. Having learned of Krakow\u2019s expertise after the birth of her first son, she immediately booked an appointment.<\/p>\n
By this point, Liviera Grace was about 26 weeks pregnant.\u00a0<\/p>\n
After reviewing the ultrasounds, Krakow diagnosed perinatal severe hypophosphatasia. Liviera Grace\u2019s baby would need to begin enzyme replacement therapy as quickly as possible after birth to maximize his chance of survival.<\/p>\n
\u201cI told her, \u2018There\u2019s now treatment available, but it\u2019s still a very arduous course,\u2019\u201d Krakow said. \u201cThis was one of those cases where there were no promises.\u201d<\/p>\n
Although the treatment has been available for the last several years, time is of the essence in a case like this: Babies born with perinatal severe hypophosphatasia lose critical time when they\u2019re not diagnosed until after they\u2019re born. Moreover, for medical professionals who aren\u2019t familiar with the disease, it\u2019s often a scramble to identify specialists and determine the correct diagnosis.<\/p>\n
The enzyme that Francis was missing, alkaline phosphatase, is critical for making hydroxyapatite crystals, the form of calcium necessary for bone growth and durability, Krakow said. Without the enzyme, \u201cyou can\u2019t make these tiny crystals,\u201d she explained, \u201cand the bone cannot mineralize calcium.\u201d\u00a0<\/p>\n
The result is profound skeletal weakness, including chest deformities that impede breathing. \u201cWhen you have these very weakened ribs laying on top of the lungs, the ribs are just like noodles,\u201d Krakow said. \u201cThe lungs try to expand but can\u2019t.\u201d\u00a0<\/p>\n
A team approach<\/p>\n
As Liviera Grace\u2019s due date approached, Krakow continued to see her every few weeks. Meanwhile, she focused on coordinating the care team and resources that would be needed immediately after the birth.<\/p>\n
The first step was obtaining the enzyme therapy, which is usually given on an outpatient basis, for in-hospital use. \u201cOur nurse practitioner, Lauren Mackenzie Mason, was critical in getting the treatment,\u201d Krakow said.\u00a0<\/p>\n
The UCLA Neonatal Intensive Care Unit (NICU) also had to plan in advance for the specific respiratory support that Francis would need, she noted, given that Francis\u2019 condition would make ventilation more difficult. They also obtained a special mattress that would best protect his fragile bones until the medication began to do its work.<\/p>\n
Dr. Kiran Kavipurapu,<\/a> an obstetrician and gynecologist whose expertise includes high-risk pregnancies, agreed to take on Liviera Grace as a patient to deliver the baby by cesarean section, with Krakow there as well to begin caring for the baby as quickly as possible.<\/p>\n With the team assembled, the medication procured and the NICU prepped, UCLA Health was ready for Francis\u2019 arrival.<\/p>\n Francis\u2019 first months<\/p>\n On delivery day, Liviera Grace and Albert arrived at Ronald Reagan UCLA Medical Center early. \u201cThe (operating room) was already full of people \u2014 nurses, respiratory therapists, anesthesiologists and NICU staff, all standing by, not just ready, but present, with love,\u201d she recalled.<\/p>\n As soon as Francis was stabilized and had undergone baseline testing, he received his first enzyme therapy shot.\u00a0Krakow said Francis is likely the youngest patient to date to receive treatment for the condition.\u00a0\u201cI\u2019ve never treated anyone at two hours of age; I don\u2019t think anyone\u2019s ever treated someone at two hours of age,\u201d she said.\u00a0<\/p>\n At first, he was so fragile that his parents weren\u2019t allowed to hold him. He required a ventilator to breathe and a nasogastric tube for feeding.<\/p>\n When Francis was 1 week old, his parents were able to hold him for the first time, but only while he rested on top of his tiny, specialized mattress to support his still-weak bones.\u00a0<\/p>\n Courtesy of the Saputra family<\/p>\n Gianna Saputra enjoys spending time with her brother.<\/p>\n As Francis continued the thrice-weekly enzyme shots, however, he quickly gained strength.\u00a0<\/p>\n By the time he was a month old, his bones were strong enough that his parents could hold him without needing to cradle him on the mattress. \u201cThe first true cuddle felt like a miracle,\u201d Liviera Grace said.<\/p>\n By 2 months, he was able to breathe on his own and was removed from the ventilator, but he still needed to be weaned off of the various pain medications, including morphine, he was receiving. Through that period, all UCLA Health neonatologists collaborated to develop a pathway to accomplish the complicated care.<\/p>\n Meanwhile, Liviera Grace was pumping so that Francis could receive breast milk in addition to the nutrition he received via his tube.<\/p>\n![\"Young](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/08\/francis-gianna.jpg\" "\\"Gianna")
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![\"Baby](\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/08\/francis-seated.jpg\" "\\"Francis")
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