'I Just Started Crying': Redondo Beach Baby Diagnosed With Rare Genetic Disease That Will Cost Millions To Treat
REDONDO BEACH (CBSLA) — Rhys Devine was born in the pandemic — a quarantine baby — full of love and the apple of her parents' eyes.
"She is happy," Ceri Devine, Rhys' mother, said. "She is smiley."
But a few months after she was born, her parents noticed something seemed off.
"Everyone kept telling me, 'It's nothing. She's just behind on her development, and I kind of just," Ceri said. "I felt like there was something wrong."
Rhys was struggling to hold herself upright, so her parents took her to the doctor.
"The pediatrician had us come in right away, and she examined her and that was when she expressed her concern that it might be spinal muscular atrophy," Ceri said. "I remember googling it on my way home from the pediatrician and the first thing that came up was, you know, most infants diagnosed with SMA do not live past two years of age, and I just started crying."
Spinal Muscular Atrophy Type 1 is a devastating genetic disease in infants that causes their muscles to waste away, eventually making it difficult to do things like move, eat and even breathe.
"These infants would then become progressively weaker and weaker and weaker until they can't breathe," Dr. Perry Shieh, UCLA professor of neurology, said. "The parents who choose to keep them alive they would actually have to get a ventilator."
The Devine's doctors told them about two brand new, potentially lifesaving drugs, but there was a catch.
"He gave us some hope telling us that the Spinraza and the Zolgensma were options to help have Rhys potentially live into retirement age," Rory Devine, Rhys' father, said. "But then he also told us that the cost of one dose of Zolgensma is $2.1 million dollars."
The family is determined to give Rhys a fighting chance. To help, friends started a GoFundMe page to help cover the enormous costs of care.
Doctors said now it's a race against time.
"This is like a down hill, and you can't actually climb back up the hill," Shieh said. "So what we like want to do is emphasize that it's important to be able to identify our patients as early as possible."
On Wednesday, California started screening all newborn babies for SMA before they leave the hospital, a move doctors said would be a game changer in guaranteeing treatment.
As for the Devine family, they have a long road of treatments ahead and have created a website where they will be documenting their journey.
