A $2 million Medi-Cal grant is giving babies and their families at Valley Children’s Hospital the answers they desperately need.
When Nathan Aguirre Martinez was born in Bakersfield in October, his parents thought they’d be taking him home to meet his older brother. Instead, they’ve spent every day visiting him in the neonatal intensive care unit, at times not knowing what was making their son sick.
Nathan weighed just 2 pounds 2 ounces when he was born.
“He wasn’t premature,” his mom, Pamela Aguirre, said. “He was full-term, but he was small.”
Soon after his birth, he began having seizures and trouble eating. But no one knew why.
He was taken to Valley Children’s Hospital a few days before Christmas where doctors were waiting with a test that finally gave his family some answers.
A pilot program called Project Baby Bear is providing whole genome sequencing to certain NICU babies who are covered with Medi-Cal. Only four hospitals in the state were chosen for the grant.
It has given Nathan’s parents a diagnosis for their son that may have taken several months if doctors had ordered multiple routine genetic testing.
Instead, Nathan’s diagnosis came within a week.
“It’s kinda like finding the needle in the haystack, and they found the needle,” Nathan’s dad, Armando Martinez, said. “Now they have to find out what to do with it.”
The genome sequencing found a mutation on one of Nathan’s genes that caused a rare disorder called Cutis Laxa Type 3. There are only eight diagnoses in the world that match Nathan’s, according to research from the American Journal of Human Genetics.
The high-tech genome testing provided by the grant usually costs between $12,000 and $20,000, according to Jason Carmichael, the lead genetic counselor at Valley Children’s Hospital. Most insurance policies won’t cover it.
Seven babies have been tested at Valley Children’s Hospital so far. Carmichael said about 1,200 babies have been tested independently through the Rady Children’s Institute for Genomic Medicine and 34 percent were given a genetic diagnosis. Out of those 34 percent, 70 percent had their care changed as a result. He is impressed with the results and hopes the success of the pilot program will make the testing more widely available.
Although there is no cure for Cutis Laxa, doctors now have a head start understanding how to care for Nathan. He’s already had several surgeries, including for cataracts in both eyes and a hernia.
It’s also given Aguirre and Martinez some peace of mind.
“You don’t want to be left in the dark,” Aguirre said. “Was it something that happened with me? Was I not eating well? That’s how I felt — like I did something wrong.”
Carmichael said the mutation on Nathan’s gene was not inherited from his parents and they didn’t do anything to cause it.
Aguirre’s and Martinez’s 10-year-old son has yet to meet his brother. Noah, who has autism, has only seen Nathan through a window at the hospital. Aguirre and Martinez are hoping to change that soon.
Although the future is still uncertain, they are both grateful for the information Project Baby Bear has given them.
His parents are documenting their journey to come home on Facebook and Instagram, where they are counting down the days until they can finally use the car seat they brought to the hospital back in October.
“It’s hard to say what’s next,” Martinez said. “We’re still hopeful that everything will be alright.”
This story has been corrected from an earlier version. The original story should have reported that Rady Children’s Institute for Genomic Medicine was was the group that independently tested 1,200 babies.