When a fragile newborn is struggling with an unknown illness, parents and caregivers alike want answers. And they want them fast.

So it was with baby Noah. Soon after his 2019 birth at 33 weeks, the tiny neonate was struggling with a persistent high bilirubin count. He underwent numerous tests at the hospital where he was born to try to determine the cause. High bilirubin is common among premature babies, yet standard treatments did not help Noah, suggesting an unusual diagnosis.

When no source of the persistent illness could be identified, the family was discharged from the birth hospital with instructions to follow up with genetic and gastroenterology specialists at Nicklaus Children’s Hospital. This guidance soon led to Noah’s hospitalization at the pediatric specialty hospital.

Fortunately for Noah and his family, Nicklaus Children’s was then leading a pilot project to evaluate the benefits of rapid whole genome sequencing (rWGS) for children hospitalized with undiagnosed illnesses. RWGS has the potential to identify countless genetic disorders, with a single test, reducing the diagnostic odyssey for affected children.

Thanks to rWGS, Noah was quickly identified as having Neimann-Pick C, disease a rare, inherited disorder that affects the body's ability to metabolize fat (cholesterol and lipids) within cells. Niemann-Pick can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.

With the rapid diagnosis, Noah was able to participate in a clinical trial at St. Louis Children’s Hospital of an investigational treatment that the family believes was helpful. Today, Noah continues to come to Nicklaus Children’s for ongoing treatment.

What’s more, Noah is thriving. After working through some developmental delays with therapy, he will be attending school in a regular classroom when he starts prekindergarten in the fall of 2023.

 

“We are so grateful for Nicklaus Children’s for helping us identify Neimann-Pick quickly so that we could begin receiving treatment. We are so proud of how well Noah is doing and have high hopes for his future.”

And there’s good news for other children and babies, too. Thanks to the impact of the Baby Manatee pilot project, which demonstrated the clinical and financial value of rWGS, this diagnostic test is now the standard of care in Florida for undiagnosed children and newborns in an intensive care units.