Program leads way in diagnosing rare diseases

KEY LARGO, Fla. – Many diseases are caused by alterations in our genes but sometimes those changes are hard to detect.

Now a cutting edge technology called Rapid Whole Genome Sequencing, or RWGS is helping find answers to what might otherwise be medical mysteries.

Larissa Andrews had a completely normal pregnancy with her first child Noah until he was born seven weeks premature and extremely jaundice.

“He just wasn’t getting better. His bilirubin was still high and we were seeing a specialist a GI specialist to try and figure it out,” said Justin Andrews, Noah’s dad.

Noah became part of a state funded pilot program at Nicklaus Children’s Hospital which was done in collaboration with the Rady Children’s Institute for Genomic Medicine in California.

The program, called ‘Project Baby Manatee’, looked into the potential benefits of  RWGS for infants admitted to the hospital.

“These are the patients that are very critically ill and they need an immediate diagnosis which will change treatment and long term outcome and prognosis and a future for family counseling and things like that,” said Dr. Parul Jayakar, head of the Division of Clinical Genetics at Nicklaus Children’s Hospital.

Jayakar said RWGS Has the potential to analyze more than thirty thousand genes at once, and provide answers within days, even hours.

“This is incredible because if we don’t do the rapid, the results may take about a few months and it defeats the purpose of why we are doing it and why we urgently need to get a diagnosis for these critically ill patients,” she said.

The testing revealed Noah had Neimann-Pick disease, a rare progressive disorder.

“We immediately, the day we got the diagnosis, we were on finding a clinical trial,” Andrews said.

He and his wife said Without question, admission into that trial, thanks to the early diagnosis, saved Noah’s life.

“Every day he’s doing stuff they said he wouldn’t do, he jumps he talks, he does everything he wasn’t supposed to do.  If that stuff wasn’t out there I mean we don’t know where we’d be today,” Andrews said.

The newly adopted state budget included funding to cover RWGS for Medicaid recipients age 20 and younger who are receiving ICU care for an undiagnosed disease.

About the Authors:

Kristi Krueger has built a solid reputation as an award-winning medical reporter and effervescent anchor. She joined Local 10 in August 1993. After many years co-anchoring the 6 p.m. and 11 p.m., Kristi now co-anchors the noon newscasts, giving her more time in the evening with her family.

Veteran journalist Kathleen Corso is the special projects producer for Local 10 News.