‘A walking miracle.’ Breakthrough at Valley Children’s Hospital gives infants new life

On a recent visit to Valley Children’s Hospital, Angelica Hernandez was keeping a watchful eye on her 15-month-old daughter, Willow Vander Laan, as she ran and jumped. She needed to make sure the bubbly girl didn’t take a hard tumble.

Willow has found joy in moving and even picks up on sounds from TV commercials and quickly gets to dancing, her mother says.

Those would seem like regular things young children do. But for Willow, moving the way she does once seemed completely out of reach.

“She’s a walking miracle,” Hernandez says with tears in her eyes.

Willow was a beautiful newborn who seemed as healthy as can be, Hernandez says. But at 1 week, Hernandez was told she needed to bring Willow right away to see doctors and get some exams.

After several tests at Valley Children’s, Hernandez was told that her newborn baby girl was diagnosed with a genetic disorder called Spinal Muscular Atrophy (SMA).

SMA is a disorder that affects the SMN1 proteins being produced in a newborn’s body and slowly causes the muscles to deteriorate and lose control, according to Dr. Raymund David, a pediatric neurologist and director of Valley Children’s Muscular Dystrophy Clinic. He is also Willow’s doctor.

There are four types of SMA with Type 1 being the most severe, David says.

“With SMA, the muscles become weak and activities of daily living like feeding or breathing or moving can be affected by this condition,” David says.

SMA affects one in every 10,000 to 11,000 newborns and most children with Type 1 SMA face the likelihood of a short life – an 8 percent survival rate at 20 months, according to David. However, spotting the disorder early, along with the use of gene therapy, can give children the ability to live almost normal lives despite their disorder.

But just a few years ago, it was difficult to diagnose early, since patients don’t show signs of the disorder until later on in infancy. Valley Children’s in Madera County is one of eight centers in California that can provide gene therapy for SMA.

Screening and gene therapy

The California Newborn Screening Program was created to screen all babies born in the state. All newborns were checked for more than 80 serious genetic disorders, according to David.

It was only recently, in June 2020, that the panel added SMA to the disorders they look for in newborns. Thanks to this addition, infants can get diagnosed early on and receive gene therapy to help them live somewhat normal lives. In late 2020, Valley Children’s began seeing newborns who may carry the SMA gene and has now administered gene therapy to several babies.

“Gene therapy is one of the treatments in SMA and it’s life-changing to these infants,” David says.

There are other treatments included in the therapy.

Every four months, Willow and her mother arrive at the hospital for regular spinal injections called “Spinraza.” David says such treatment helps infants reach milestones like sitting and standing. Those are things that would be impossible without therapy, David says.

He adds that in Willow’s case, her walking journey has been remarkable.

Hernandez, Willow’s mother, said that the doctors at Valley Children’s have been extremely helpful as she deals with her daughter’s condition.

“Without their support, who knows, Willow probably wouldn’t be able to walk,” Hernandez says. “Five years ago, families probably wouldn’t have the results we have now.”

David says, “Kids are no longer given a death sentence at 2 years old. This has completely changed our conversation with parents and now we can focus on what they can do and not on what they can not do.”

This story was originally published March 8, 2022 at 12:01 AM.