At her eight-month pregnancy check-up, Lizmara Figueroa met with a new doctor. As he walked out the door, he made a parting comment.
“He says, ‘Oh, just so you know, you’re a carrier for (spinal muscular atrophy) so you should get your husband here to get tested,’” Lizmara Figueroa, 28, of Levittown, Pennsylvania, told TODAY Parents. “I hadn’t heard of SMA. I didn’t know what to think.”
Soon after, her husband, Angel Figueroa, underwent testing and learned that he also was a carrier. Still, they weren’t sure what that would mean for their unborn daughter.
“I was really hopeful that she wouldn’t be affected, so it wasn’t that serious to me,” she said.
Their daughter was born with the most severe type of spinal muscular atrophy. Just a few years ago, this news would have been a death sentence.
Their daughter, Millie, was born with the most severe type of spinal muscular atrophy. Just a few years ago, this news would have been devastating, possibly a death sentence. Babies born with type 1 SMA can have a hard time sucking and swallowing; in the past, most died before their second birthdays. In Millie's case, though, she received gene therapy when she was 19 days old along with additional ongoing treatments. Today, at age 3, she is thriving.
The Figueroas hope their family's experience will encourage more parents to pursue SMA screenings for themselves and their newborns.
“Other families and couples should at least get some form of genetic testing done to know if they’re carriers for a disease like SMA,” Angel Figueroa, 27, told TODAY Parents. “That way they can be proactive … and have a plan of action.”
‘We were in shock’
After her appointment with the doctor who mentioned SMA, Lizmara Figueroa began doing research online. She quickly realized just how serious the condition can be.
“I saw there were babies with feeding tubes and they were on breathing apparatuses and mostly in wheelchairs,” she said. “It scared me.”
The couple still hoped that their daughter would be spared from it. Millie underwent screening as a newborn. Her results came back three days later.
“We were in shock, honestly,” Angel Figueroa said.
The next day, the couple took Millie to Children’s Hospital of Philadelphia (CHOP) to meet with neurologists and consider treatments.
“They did let us know that there were treatments available, when before there were not,” Lizmara Figueroa said. “There was a treatment that was actually going to freeze the progression of SMA. That was huge for us. It gave us so much hope.”
What is SMA and how is it treated?
In SMA, people lose motor neurons in the spinal cord, which contributes to a gradual weakness of muscles.
“Spinal muscular atrophy is an inherited nerve condition. It’s genetic in nature,” said Dr. John Brandsema, a pediatric neurologist in CHOP's neurology division who treated Millie. “Before we had target treatments for it, it was the most common (genetic) cause of death in infants.”
SMA exists on a spectrum. The most common form of it — accounting for about two-thirds of patients — starts in infancy and is life-limiting, said Brandsema. In infantile-onset SMA, also known as type 1 SMA, babies “rapidly lose” strength until they need assistance breathing and eating by the time they’re about 2.
“There is a significant risk to life throughout young childhood for those who have that infantile onset,” said Brandsema, who is also the director of the Muscular Dystrophy Association’s Care Center at the hospital. “There are several families that we follow in clinic who have young adults that had infantile onset of their disease. They’re thriving in terms of their mental function because their cognition is not affected, but their body simply doesn’t move.”
The condition is progressive, which means that people’s symptoms worsen over time. SMA is also considered rare, accounting for one in 10,000 live births, Brandsema said. Many people carry the gene for SMA but don’t show symptoms. If both parents are carriers of it, there’s a one in four chance the baby will have it, Brandsema said.
“Carrier status is quite common for SMA,” Brandsema said.
That’s why screening is so important. Parents can undergo genetic screening before or during pregnancy to understand the risk of passing SMA on to their children. Newborn screening, “which has been recommended since 2018,” is how doctors diagnose children with it.
“We’re up to over 97% of live births being screened with only two or three states left to (start screening) ... which is a very rapid adoption,” Brandsema said.
Treatments have been available for SMA since 2016, and there are now three treatments that patients can access. Brandsema said the existence of those treatment options “has led to a tremendous shift in care.”
The treatments work best when they are given before symptoms start and the damage to the motor neurons begins.
“It’s critical to start treatment as soon as possible because the lost ground we can never get back is that the motor neurons have died and we can’t replace them,” Brandsema said. “This is why there is such a push to identify people as early as possible.”
Screening allows babies to undergo treatment in the first days or weeks of their lives.
“Prior to newborn screening for spinal muscular atrophy, infants born with SMA wouldn’t be diagnosed until most symptoms were irreversible, and many children passed away,” Paul Melmeyer, vice president for public policy and advocacy at the Muscular Dystrophy Association, told TODAY via email. “Now, with treatments available and diagnoses occurring within a week of birth due to newborn screening, children with SMA are thriving. Newborn screening truly saves lives.”
While early intervention is key, experts believe there are also benefits to giving children with symptoms treatments in the hopes of slowing the condition's progression, he added.
“In the natural history of SMA those nerve cells are still sick and are being lost over time, which is why the weakness progresses,” he said. “If we now stabilize the disease, we do see the potential for a therapeutic impact in people who have a more severely affected body.”
Brandsema noted that SMA is still a lifelong condition that requires careful management. While doctors are hopeful that the available treatments will allow children to grow into adults with “minimal symptoms,” the therapies are so new that it’s unclear what adulthood might be like for these patients.
“Nobody has been treated with these things for an entire lifetime at this point,” Brandsema said. “We still need to be very vigilant.”
Millie’s life with SMA
When Millie was 19 days old, she received her first treatment: Zolgensma, a one-time gene therapy. Then at 3 months old, she started another treatment called Spinraza.
“(The two treatments) work together to get really the best possible outcome,” Millie’s mom, Lizmara Figueroa, explained. “This is all kind of experimental because it’s so new.”
Every four months, Millie receives an injection of Spinraza “for life,” and she’s under anesthesia when she receives it. Doctors advised the Figueroas not to worry if Millie doesn’t meet milestones, such as sitting up, at the expected age.
“She’s on her own timeline,” Lizmara Figueroa said. “They were not so concerned with her hitting milestones at certain months.”
She sat at 9 months and started crawling at 14 months, for example. So far, Millie hasn’t needed any support to help her with breathing or eating, unlike children with infantile SMA born prior to treatments. Now 3 years old, her mom said the spunky little girl is “the boss around the house.”
“She enjoys fingernail polish, her purses, her babies,” Lizmara Figueroa said. “She’s the girliest girl.”
She had early intervention with physical, speech and occupational therapy, and she even did horse therapy. The toddler is excited to start preschool, and her parents are grateful to see her thriving.
“We are so fortunate,” Lizmara Figueroa said. “Being able to share our story gives a little bit of hope (to others).”