For Stephanie Acord, M.D., a pediatric neurologist specializing in neuromuscular disorders at Cook Children’s, those first conversations with parents are much more than explaining a diagnosis.

“For these families, the biggest thing is trying to learn to trust us,” said Dr. Acord. “We are going to do anything and everything that we can to get their child the best type of treatment, to have the best outcomes possible.”

That trust is especially important because with SMA, time matters.

Before Texas added SMA to its newborn screening panel in 2021, many children were diagnosed only after symptoms began to appear or older siblings were also diagnosed with SMA. Today, newborn screening allows specialists at Cook Children’s to identify babies much earlier and begin evaluating treatment options before symptoms develop.

“Besides stroke, where every minute counts, in the SMA world, essentially every day counts,” Dr. Acord said.

SMA is caused by a genetic change that prevents the body from producing enough survival motor neuron (SMN) protein, which keeps motor neurons healthy. There are five types of SMA categorized by disease severity and the age at which symptoms begin. Even though no cure exists for this condition, there are four different types of medication that are currently approved by the U.S. Food and Drug Administration (FDA) to treat SMA. One of them is SPINRAZA®, a treatment medication that was first approved by the FDA back in December of 2016.

Because Jesse’s newborn screening identified him early, his care team immediately began confirmatory testing while working to start treatment without unnecessary delays.

Rather than waiting weeks for additional approvals, Jesse began taking Evrysdi®, an oral medication that served as a bridge while the team secured authorization for a gene therapy medication called Zolgensma®. Jesse continued his oral medication as physicians closely monitored his progress.

Although Jesse continued to make progress with the first two treatments, Dr. Acord believed he could benefit from the third treatment, SPINRAZA®.

At Jesse’s one-year follow-up appointment, he had not yet reached some of the developmental milestones his care team had hoped to see. After several conversations and close follow-up visits with his family, Dr. Acord recommended adding the third treatment medication that Jesse had not yet received.

On March of 2026, before Jesse’s scheduled treatment appointment, the FDA announced the approval of a higher-dose regimen of SPINRAZA® for eligible patients. The approval did not introduce a new medication. Instead, it expanded dosing for an existing therapy that has been used to treat SMA since 2016, allowing eligible patients to receive a larger dose over a shorter period.

Recognizing the potential benefit, Dr. Acord and her team immediately contacted Jesse’s parents and discussed the newly approved dosing option.

“For Jesse, that meant he was getting more medication in a shorter period of time,” said Dr. Acord.

After discussing the risks and benefits, Jesse’s parents agreed.

Jesse became the first patient in Texas and only the second in the United States, to receive the newly approved higher-dose regimen at Cook Children’s.

“Instead of having to undergo four lumbar punctures, which are more invasive procedures, within a two-month period on the regular standard dosing regimen, he was going to undergo two of those, within a two-week period, but essentially get double that dose within two weeks compared to over two months,” Dr. Acord explained.

Within weeks of the first dose, Jesse’s family noticed changes. He began pulling himself up to stand, cruising along furniture, and clapping his hands. He even attempted to climb stairs. His family quickly learned how to appreciate the little things children normally do, and they took nothing for granted.

For Dr. Acord, those moments never lose their significance either.

“When children come walking in or they just walk across the room for the first time, your mouth hits the ground, and you're just like, ‘this is why I do what I do,’” said Dr. Acord.

Today, watching Jesse continue reaching new milestones gives the family hope they could not have imagined during those first frightening days after his diagnosis.

“I'm glad I took the chance on trying something new, because I just want to give him the best opportunity to walk,” said Lupe Vasquez, Jesse’s mother.

Looking back, she hopes other parents facing an SMA diagnosis will give themselves grace.

“I would tell [other parents] that they're not alone. I know exactly how it feels whether it's SMA or another disease.” Lupe said. “Take care of your mental health… you have to make sure that you are okay too.”

Thanks to early screening, medical innovation, and a team committed to finding every possible advantage, Jesse’s journey is just beginning. Each new milestone serves as a reminder that, for children with SMA, every small step forward can change the course of a lifetime.

Vivianna Madera can drink from a cup, flip a light switch, and pick up her phone thanks to a robotic arm attached to her wheelchair.

That device – with joints that extend, lift, tilt and grip -- enables Vivianna to perform many simple tasks on her own. She operates the robotic arm at the touch of a switch.  

Vivianna is one of about 25,000 Americans who live with spinal muscular atrophy (SMA), a genetic disorder affecting the nerve cells that control muscles. Vivianna can talk and move one wrist and a thumb. But she can’t move other body parts due to the progressive muscle weakness and deterioration caused by SMA.

That’s why the robotic arm, delivered to her Aledo home in October 2024, makes such a difference for this 20-year-old. Vivianna’s knack for optimism and persistence came in handy as she practiced by grabbing Uno cards and Jenga blocks. She maneuvered left and right, up and down, and back and forth to figure out the sensitivities and capabilities of the robotic arm.  

“It’s helped with my independence,” she said. “You have to be very patient. I’ve had to learn how to have a gap and how far the fingers have to be open to grasp something.”

The Custom Mobility Division of Cook Children’s Home Health played a key role in helping Vivianna and her family win insurance approval. The process took about a year and a half, including an appeal when the initial request was denied. Her assistive technology professional (ATP) at Cook Children’s made the case that a robotic arm was necessary for medical and safety reasons. 

“The robotic arm is not a convenience item,” said Custom Mobility Manager Briyet Sigala, ATP. “If there’s a fire or tornado or active shooter, it’s going to allow her to open doors and get to a safe location.”

The apparatus also gives Vivianna a better quality of life. Now she’s able to get a drink by herself, move lightweight objects out of her wheelchair’s path, and help her family with the cooking. In November 2024, she proudly voted unassisted for the first time by poking the touch-screen ballot with a cotton swab held in her robotic fingers.

Understanding Viviana's Condition

As an infant, Vivianna could roll over and try to pull herself up. But at 9 months she stopped moving, said her mom, Kate Madera. She was diagnosed with an intermediate type of SMA. Vivianna began using a wheelchair at 18 months old.

“I can’t walk, but I can drive real fast,” young Vivianna liked to say.

By the time she was in third grade, she had lost the ability to write, brush her teeth and other function of her arms and hands. Over the years she received Cook Children’s Pulmonary, Neurology, Orthopedics and Gastroenterology specialty care.   

“I really need help with every aspect of my life,” Vivianna said. “Right now, I’m at Weatherford College studying political science. My nurse comes with me to make sure that I’m OK and to help me when I need it.”

Robotic Flex

The Madera family reached out to the Custom Mobility Division at Cook Children’s Home Health when Vivianna needed a new wheelchair. They decided to try for insurance approval for a robotic arm, too, which required an evaluation, physician letter, and other supporting documentation. Sigala wrote a 10-page letter of medical necessity. They also submitted videos showing Vivianna using a demo model.

The first application for the robotic arm was denied in 2023, but an appeal was approved in August 2024.

Vivianna remembers how it felt the first time she reached out and clutched a cup:

 “Amazing.”

Learning to operate the robotic arm isn’t easy. Kate says her daughter has a way of figuring things out, and she doesn’t give up. The robotic arm gives her more agency as a young adult.   

Kate credits Sigala with being an instrumental advocate along with Vivianna’s occupational therapist and an attorney from Disability Rights Texas. “They really fought for her,” Kate said. “I couldn’t be more grateful.” 

Empowering Lives Through Custom Mobility

Cook Children’s Home Health provides an array of in-home medical care and delivery of supplies to thousands of patients in five locations across Texas. The staff in the Custom Mobility Division specialize in custom durable medical equipment that meets each patient’s specific needs, such as power wheelchairs, manual wheelchairs, car seats or products for bathing. 

“We meet with families and therapists, and we essentially listen to what is it they’re looking for? What is it they’re struggling with? We try to get the full picture,” Sigala said.  

Custom Mobility serves patients ages 1-21 who require specialized products that are used as tools for mobility and other activities of daily life.  Some were born with conditions such as SMA or muscular dystrophy. Others have been injured in drownings, shootings or vehicle accidents. New equipment requires an order from a Cook Children’s physician or therapist.

Because the usage is long term, Sigala says, the specialists go out of their way to find or design custom pieces with the exact size, best comfort and even the color the patient desires. She remembers collaborating with the manufacturer who engineered, at the family’s request, a wheelchair with the footplate and shock absorption from two different frames.

They also repair equipment when needed, as promptly as possible.

Like the teams across all Cook Children’s sites, they’re connecting the dots to provide exceptional care. 

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