Newborn screening, treatment make big difference with rare muscle disorder | Local News

Sadye Matula

Amy and Adan Medina of Fond du Lac have three children with the most serious form of spinal muscular atrophy, or SMA, a rare disorder that weakens muscles. Treatments that have become available in recent years are most effective if the disease is caught early, usually through newborn screening. From […]

Amy and Adan Medina of Fond du Lac have three children with the most serious form of spinal muscular atrophy, or SMA, a rare disorder that weakens muscles. Treatments that have become available in recent years are most effective if the disease is caught early, usually through newborn screening. From right, Amelia, 3, is barely affected by the condition; Javier, 5, is somewhat affected; and Mateo, 10, is significantly affected.

Mateo Medina has never walked or talked. The 10-year-old breathes and feeds through tubes.

His brother, Javier, 5, marches around their house in Fond du Lac and talks up a storm, but he can’t run or jump and his speech is garbled. He can eat soft foods.

Their sister, Amelia, 3, sprints, chats and eats like most kids her age. An occasional morning tremor is the only sign that she, too, was born with the most serious form of spinal muscular atrophy, or SMA. The genetic disorder, which progressively weakens muscles, typically has been fatal by age 2.

Amy and Adan Medina’s children, Mateo, 10, Javier, 5, and Amelia, 3, were all born with SMA or spinal muscular atrophy

New treatments are changing the face of SMA, and the Medinas are Exhibit A. Mateo was born five years before approval of the first treatment, which Javier received in a clinical trial. Amelia got a newer gene therapy — considered most effective if given within a few weeks after birth, before symptoms appear — when she was 11 days old.

For families without a history of the disease, the main way to catch it early is newborn screening. While Wisconsin and most states have added SMA to their infant testing programs, 12 states haven’t, including Alabama, after a federal committee recommended it in 2018.

“A large part of me feels like the state of Alabama failed my son,” said Lauren Hendrix, of Troy, Alabama, whose son Graham died in January. He was diagnosed with SMA nearly six weeks after birth after developing symptoms and received the gene therapy, called Zolgensma, two weeks later.

Lauren Hendrix


“Had he gotten Zolgensma a month sooner, because (SMA) had been tested for in the newborn screening, I fully believe my son would still be alive today,” Hendrix said.

Dr. Mary Schroth, chief medical officer of Cure SMA, based in Elk Grove Village, Illinois, has been urging all states to add SMA to newborn screening. Other states that haven’t are Alaska, Arizona, Hawaii, Idaho, Louisiana, Nevada, New Jersey, New Mexico, Oregon, South Carolina and Virginia. Some plan to start next year.

Amy with Mateo, with Amelia and Javier in background

Amy Medina, with children Mateo, 10, foreground, Amelia, 3, and Javier, 5, said she and husband Adan worked full-time jobs, with opposite shifts, until their daughter was born. “We didn’t see much of each other,” she said. Adan started staying home with the kids until recently, when he went back to work and she started staying home.

“An infant being diagnosed with SMA used to be essentially a death sentence, and it’s not anymore,” said Schroth, who previously was a pediatric lung specialist at UW Health. But, “the sooner a patient with SMA is identified and treated, the better the outcomes.”

New treatments

Like most disorders detected in newborn screening through a few drops of blood collected from a baby’s heel a day or two after birth, SMA is rare, occurring in about 1 in 11,000 births. If both parents are carriers, each of their children has a 25% chance of having SMA.

The condition is caused by a mutation in a gene that normally makes a protein needed by nerve cells that control muscles. Without the protein, the nerve cells die and people lose the ability to move.

A drug called Spinraza, approved in 2016 for SMA patients of all ages, helps a related gene make more of the protein. Given by spinal injection every four months for life, the drug costs $750,000 the first year and $375,000 each subsequent year.

Amy giving breathing treatment to Javier

Javier Medina gets breathing treatments to remove secretions from his airway and mucus from his lungs twice a day. His brother, Mateo, gets the treatments three times a day.

Zolgensma, approved in 2019 for SMA patients younger than 2 years, is a one-time infusion. It uses a harmless virus to replace the mutated gene with a normal one, restoring regular protein production. The gene therapy costs $2.1 million, believed to be the most expensive one-time treatment on the market.

A third treatment, Evrysdi, was approved last year for SMA patients 2 months and older. It’s a daily oral liquid that helps make and maintain more of the protein, costing up to $340,000 a year.

Spinraza has helped most patients treated early maintain the ability to swallow and eat by mouth, its maker, Biogen, reported in June. With Zolgensma, most children with severe SMA sat, stood and walked alone at age-appropriate times, according to clinical trial data by Novartis. Most infants who started Evrysdi after developing symptoms were free of ventilators at their first birthday, Genentech said in July.

With its hefty, ongoing price tag, Spinraza “exceeds common thresholds for cost-effectiveness,” according to the Boston-based Institute for Clinical and Economic Review, or ICER, which studies the cost and benefits of medical treatments.

Zolgensma’s price is “right at the upper bounds of what could be considered cost-effective,” said David Whitrap, a spokesperson for ICER, which hasn’t reviewed Evrysdi.

Javier and Mateo in Mateo's room

Javier Medina, left, plays on his tablet as his brother Mateo lies on his bed at their home in Fond du Lac. Sometimes Javier or his sister Amelia will grab Mateo’s hand and help him play a game, their father said. “They include him as much as they know how to include them,” Adan Medina said.

Among about 80 patients with SMA at UW Health, including adults with a later-onset form, 17 take Spinraza, a dozen have received Zolgensma and about 50 are on Evrysdi, said Dr. Jennifer Kwon, a UW pediatric neurologist. Insurance coverage is sometimes a challenge for Spinraza and Evrysdi, but most plans promptly cover Zolgensma, especially for infants, Kwon said.

Since Wisconsin added SMA to newborn screening in October 2019, nine babies have been found to have the condition through the testing. Eight have received Zolgensma and one got Spinraza.

One Wisconsin baby who had symptoms of SMA before getting Zolgensma shortly after birth has had physical delays, but the others who got the gene therapy “are doing remarkably well,” Kwon said.

Kwon with Piper, Caiti and Ben in hospital

Dr. Jennifer Kwon, a pediatric neurologist at UW Health, tests Piper Droessler’s strength in this photo from January 2020, as her parents Caiti and Ben Droessler look on.

What their lives might be like years from now “is a question we can’t answer,” she said. “While it seems like it’s continuing to be effective, we just don’t have longer-term data.”

Results vary by state

Seated in her high chair, Piper Droessler bounced up and down, kicked up her feet and ate strawberry-banana yogurt with a spoon — until she decided to scoop it up with her fist and smear it across her face.

Piper eating

Piper Droessler eats with her family at their home near Platteville a few weeks before turning 2 on Nov. 25. Piper was the first baby to test positive for spinal muscular atrophy through newborn screening in Wisconsin, which started the testing in October 2019. She got a new gene therapy for the condition shortly after birth and shows no signs of SMA.

A few weeks before her second birthday last month, the toddler chased her older brother and sister around their home near Platteville, occasionally falling on the floor before springing back up and racing again.

Piper was the first child in Wisconsin to test positive for SMA through newborn screening and the first identified through screening to get Zolgensma, 23 days after she was born. Today, she shows no signs of the disease.

Caiti holding up Piper

Caiti Droessler said she’s grateful Wisconsin started screening babies for spinal muscular atrophy six weeks before daughter Piper was born. After Piper tested positive, Caiti and husband Ben learned they are carriers, meaning each of their children has a 25% chance of having the disease. Ellianna, 8, and Finley, 5, don’t have it, but “if one of them would have had it, it would have been a whole different story,” Caiti said.

“You wouldn’t even know,” said her father, Ben Droessler.

Caiti Droessler, Piper’s mother, interacts online with parents whose children with SMA have died or use feeding tubes. “I don’t know their struggle at all,” she said.

In Alabama, after Lauren Hendrix’s son died, she started a petition to get SMA added to newborn screening. The state plans to start screening for SMA by late January, said Arrol Sheehan, spokesperson for the Alabama Department of Public Health.

Graham Hendrix

Graham Hendrix

Graham Hendrix looked normal at birth in October 2020, but a few weeks later he stopped moving his arms and his head, his mother said. After being diagnosed with SMA, he got Zolgensma at Children’s of Alabama hospital in Birmingham. The treatment seemed to help, but he stopped breathing in January and died the next day.

“It blows my mind that we don’t test for (SMA) in our state, but we have a team for it at the children’s hospital,” said Hendrix, who is expecting a daughter in April.

Wisconsin first state to screen newborns for rare immune disorder

The state started testing babies for severe combined immunodeficiency disorder in 2008. 

Haley Comer of Middleton, Idaho, said she and medics had to resuscitate her son, Ryder, a month after he was born. Tests showed he had SMA, and he got Zolgensma two weeks later.

Today, at 10 months, Ryder is moving his arms and sucking on his fingers again, but he doesn’t sit or hold his head like most children his age, his mother said. Idaho plans to start screening for SMA in February, said Greg Stahl, spokesperson for the Idaho Department of Health and Welfare.

Ben Droessler with daughters

Ben Droessler, with daughters Ellianna, 8, and Piper, who turned 2 on Nov. 25, said Piper shows no signs of the spinal muscular atrophy she was born with but treated for shortly after birth.

“It’s very frustrating” Idaho hasn’t started the testing yet, Comer said. “Getting treatment sooner gives them such a better chance.”

Audrey Wiley’s daughter Adelynn was born in Storm Lake, Iowa, on June 25, 2020. Six days later, Iowa started screening newborns for SMA.

Adelynn, diagnosed with the disease at 3½ months, got Zolgensma a month later. She started moving more but stopped breathing in January and died.

“It’s as bad of luck as it gets,” Wiley said. “Obviously, she was not treated soon enough.”

In adults, new treatment for muscle disease can have mixed results

Two sons with SMA

Like most parents affected by SMA, Amy and Adan Medina had never heard of the disease before their son Mateo was diagnosed with it a month after he was born in 2011.

He has used a feeding tube since he was 3 months old and a breathing tube, attached through a hole in the front of his neck, since 7 months. He wears diapers. He can’t move, except for his eyes, and, very subtly, his feet and left index finger and thumb. “You have to really be watching to see it,” Amy Medina said.

Adan with Mateo

Adan Medina cleans around his 10-year-old son Mateo’s breathing tube before getting him dressed. Nurses provide some care for Mateo, but Adan and his wife Amy also spend a lot of time caring for him.

Three times a day, his parents or a nurse use machines to clear secretions from his airway and mucus from his lungs.

Mateo spends his days in bed or on a wheelchair-stroller, extended upright to support his spine and prevent the buildup of secretions. He goes to public school, where he has been trying to use a communication device activated by eye movement to converse with fellow fourth-graders.

When the Medinas got pregnant again, they knew they had a 25% chance of having another child with SMA. But, “one in four is also a 75% chance you’re not going to have an affected baby,” Amy said.

Photos on wall

Photos in the hallway of Amy and Adan Medina’s home in Fond du Lac show them with their sons, Mateo and Javier, who were born with spinal muscular atrophy. Photos of Javier, right, show him grinning before age 3, when his facial muscles weakened so much he became unable to smile.

More than five months into the pregnancy, amniocentesis confirmed the baby would have SMA. The news was no easier to accept the second time. “It was still heartbreaking,” Adan said.

After Javier was born, the family drove 14 hours to Johns Hopkins University in Baltimore, where he got his first dose of Spinraza in a clinical trial at 12 days. They made 18 trips to Baltimore, most by airplane, before Javier started getting the injections last year in Chicago.

Mateo also got Spinraza, starting at age 6, before switching last year to Evrysdi.

Javier eats — mostly oatmeal, mashed potatoes, cookies and Cheetos — but gets much of his nourishment through a feeding tube at night. He also receives supplemental oxygen while sleeping, especially when he’s sick.

Amelia and Javier

Javier Medina, 5, and his 3-year-old sister, Amelia, get going soon after waking up on a recent morning at their home in Fond du Lac.

In addition to getting treatments to remove secretions and mucus twice a day, the kindergartner receives physical therapy, occupational therapy and speech therapy.

Family photos show him grinning until he was 3, when his facial muscles weakened. “He lost his smile,” his mother said. “He says it’s broken.”

A third child

When the Medinas got pregnant a third time, they figured the odds must be in their favor. But they learned, again through amniocentesis, that their third child would also have SMA.

“I cried, loud, uncontrollably and a lot for a period of time,” Amy wrote on the family’s CaringBridge page.

Amelia was born in March 2018, when another clinical trial was available, for Zolgensma. After getting the gene therapy at UW’s American Family Children’s Hospital, she is doing well today.

Outside the family’s house, a big red van sits in the driveway, equipped to carry the five Medinas and all of their gear. On a recent morning, Amelia ran along the sidewalk. Javier swung his arms as if he was running, but his feet stayed on the ground. Mateo watched them from his horizontal perch.

Amy and Amelia

Amy Medina, shown with 3-year-old daughter, Amelia, said the only sign Amelia shows of having a spinal muscular atrophy is an occasional tremor in the morning.

Amelia pushed her scooter, adorned with a unicorn on the front. Javier rode his three-wheel, lime green adaptive bicycle, sporting a hotdog costume he likes to wear around the house.

“They’re two peas in a pod, but they fight like crazy too,” Amy said.

With three children who represent the spectrum of SMA today, the Medinas see the importance of newborn screening.

“Catching it early makes a world of difference,” Amy said. “You shouldn’t have to wait until your child is showing symptoms to figure out what’s happening.”

Javier waking up

Javier Medina, 5, wakes up at his home in Fond du Lac. He started treatment for spinal muscular atrophy less than two weeks after he was born, but he still has some symptoms of the muscle weakening disease. At night, he receives supplemental oxygen and nourishment through a feeding tube. 

More from this series:

No time to lose: Finding rare diseases in infants

Many Wisconsin hospitals send some newborn screening samples late

Wisconsin wants to hold onto newborn screening specimens longer

Newborn screening not equal among states, leaving some babies untreated

Wisconsin’s newborn screening list shorter than in many states

In adults, new treatment for muscle disease can have mixed results

Wisconsin first state to screen newborns for rare immune disorder

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