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TAYLORSVILLE — One in 40 people carry a mutation of a gene responsible for muscles throughout the body.
That includes muscles that assist with breathing and swallowing, two critical life functions.
The mutation of SMN1 doesn't necessarily affect the carrier, but when two carriers have a child, that child has a 25 percent chance of ending up with spinal muscular atrophy. The disease almost always results in the child's death, as it is the No.1 genetic cause of infant mortality.
But that was before a treatment became available and before babies were screened for the basically terminal illness.
"I'm excited for people to get to enjoy their children a little bit longer as I'm enjoying her now," said Janell Lewis, who lost her first child, daughter Blakely Joe Lewis, to spinal muscular atrophy in 2013. Blakely was 21 months old and had never developed as a child should.
Lewis and her husband, Elliot Lewis, of Ogden, knew the chances of it happening again, but he said they "wanted to grow their family."
"We were meant to have these special babies," she said.
Evie Snow Lewis, a second daughter, was born in April, days after the family's insurance company agreed to cover an expensive medication that received U.S. Food and Drug Administration approval just four months prior.
"When you're dealing with a disease that is life and death, and you hear there's a treatment, you jump at the opportunity to take it," said Elliot Lewis, adding that they didn't have the option with Blakely.
Though Evie's potentially debilitating condition was known before she was born, it took several days to confirm the diagnosis once she was here. Evie received her first dose of Spinraza, which is given through an injection in the spinal cord, at 12 days old.
Her course of repeated doses every four months will be much the same for others with the disease, as it is now one of the 41 rare disorders included in the Utah Department of Health's Newborn Screening Program, which tests blood collected from sticking a baby's heel within 48 hours of his or her birth and again at 2 weeks of age.
"The diseases we screen for are not apparent at birth and there may not be any sign that a newborn is sick until there is irreparable harm, even brain damage and death," said program manager Kim Hart.
She said the screening is critical to saving and prolonging lives.
Spinal muscular atrophy affects 1 in 10,000 babies and is the latest condition to be added to the list of preventable struggles. Since the blood from babies is already being tested, it is "simple and inexpensive" to add another assay and screen for spinal muscular atrophy.
"What you see in SMA is a catastrophic loss over a very short period of time and that is irreversible," Dr. Russell Butterfield, a neurologist with the University of Utah, said Wednesday. He said that deterioration of motor nerves most commonly occurs between 6 weeks to 2 months of age in the most severe cases.
"In the past, there was no hope," he said. "It was a death sentence to these children. That changed all of a sudden last year. There is hope now. We can treat this disease and it changes everything."
Butterfield said the complex disease "is rare, but not that rare." About 25 children in Utah are now receiving the life-changing medication.
"It's a transformation to be able to treat it before symptoms even start," he said, adding that, with treatment, most patients with the disease can expect to live a normal life.
"It's night and day compared with her big sister," said Janell Lewis, adding that life with a baby is "fun."
"It's all the stuff I've never experienced before," she said. Evie, she said, can sit up, grab her hand and "do all kinds of things Blakely was never able to do."
Losing Blakely, Elliot Lewis said, was "almost unbearable."
"You never think you'll be able to get over it," he said. "But, we're much stronger, much better people because of her. It makes you try to see the beauty in every day. It makes you just live life because she wasn't able to."
The family had never heard of the disease prior to Blakely's diagnosis and intended then to help inform others, but never had the time. With Evie, they've created a YouTube vlog, called SMA Dad, to show other families what it is like to live with spinal muscular atrophy and how Spinraza works for them.
"There's always hope, it may not come in the form you expect, but just keep at it and do the best you can for yourself and your children," Eliott Lewis said, adding that he believes that helping others will end up benefitting his family.
Other potentially beneficial medications for spinal muscular atrophy are in the works and it remains unknown how it could help little Evie. But, Janell Lewis said, "you never know when that silver lining is going to show up."
FDA approval of Spinraza, each dose of which is about $125,000, was accelerated due to its positive impacts, but the health department also acted quickly to get the disease included in the newborn screening regimen. A grant has helped to fund the additional test for the first six months of implementation, which began in January, but the Utah Legislature must approve a budget request to continue funding the screening beyond July in Utah.
"It's really incredible to have a treatment. To have hope is incredible," said Elliot Lewis. "The future for these kiddos is pretty bright."
