OZ.VGI.CO.ID - Jesse Vasquez, a 17-month-old boy from Fort Worth, Texas, has achieved an emotional milestone that his family once feared might never come. On June 26, Jesse took his very first independent steps — a triumph made possible by a history-making FDA-approved treatment for spinal muscular atrophy (SMA), the rare genetic neuromuscular disorder he was diagnosed with just one week after birth.
"It's been a whole month of pure joy," his mother, Lupita Vasquez, 29, tells PEOPLE exclusively. "Even though he didn't meet some milestones at the 'normal' ages, we have learned that every child is different and they have their own timeline, especially children with SMA."
A Devastating Diagnosis Seven Days After Birth
Seven days after welcoming her second child, Lupita received a call that would permanently alter the course of her family's life. Jesse's routine newborn screening had returned a positive result for spinal muscular atrophy, a rare genetic condition that causes progressive muscle weakness and atrophy by disrupting the production of survival motor neuron (SMN) protein — a protein critical for the function and survival of motor neurons in the spinal cord.
"At that moment, I had no idea how much of our lives were about to change," Lupita recalls. The news arrived at one of the most vulnerable moments a new mother can experience, just days after childbirth and still navigating the demands of a newborn alongside her 7-year-old son, Tony.
Understanding SMA Type 1: The Most Severe Form
Jesse was diagnosed with SMA Type 1, also known as Werdnig-Hoffmann disease, which is the most severe classification of the condition. According to the Cleveland Clinic, symptoms typically emerge within the first six months of life and can include limited head control, significantly decreased muscle tone, and serious difficulties with swallowing and breathing.
Left untreated, SMA Type 1 historically carried an extremely poor prognosis, with most affected infants not surviving beyond two years of age. The condition is caused by mutations in the SMN1 gene, and its rarity — affecting approximately one in 10,000 live births — means many families, including the Vasquez family, have never encountered it before diagnosis.
The Emotional Weight of an Unknown Diagnosis
Because SMA is so uncommon, Lupita found herself navigating a frightening information vacuum in those first critical hours. "Since SMA is so rare, they didn't have many answers for me, and I had to wait to speak with the neurologist to get more information," she says. "Our family had never heard of SMA before — we had no idea what it was."
Like many parents in crisis, she turned to the internet for answers — and quickly regretted it. "The information made my heart drop," she recalls. "I just kept looking and holding Jesse, and none of it made sense to me. He looked healthy, with no signs of anything I was reading about. My baby looked perfect." The disconnect between what she was reading and what she could see in her apparently healthy-looking newborn made the diagnosis all the more difficult to accept.
Lupita also found herself spiraling into self-blame, a reaction common among parents receiving a genetic diagnosis for their child. "Did I not eat healthy enough? Did I not take enough vitamins?" she remembers wondering. The morning after receiving the diagnosis, she and Jesse's father sat through an appointment with the neurologist — one that Lupita says she cried through entirely. "I felt completely numb, like a zombie trying to process everything," she tells PEOPLE.
Early Treatments at Cook Children's Health Care System
Within Jesse's first month of life, he began two different treatments administered at Cook Children's Health Care System in Fort Worth, Texas, one of the region's leading pediatric medical centers. These initial therapies are standard protocol for newborns following an SMA diagnosis, and while Jesse made some progress, his development did not advance as quickly as his care team had hoped.
"He wasn't crawling yet, so his neurologist suggested we consider switching to Spinraza," Lupita explains. Spinraza — known generically as nusinersen — is a prescription antisense oligonucleotide (ASO) therapy that is delivered via intrathecal injection directly into the cerebrospinal fluid surrounding the spinal cord, targeting the precise site of motor neuron loss. Its mechanism works by modifying pre-mRNA splicing to increase the body's production of functional SMN protein, compensating for the defective SMN1 gene.
Spinraza: The First-Ever FDA-Approved SMA Treatment
Spinraza made medical history in December 2016 when it became the first treatment ever approved by the U.S. Food and Drug Administration specifically for spinal muscular atrophy. The approval marked a watershed moment in the treatment of neuromuscular diseases and opened the door to a generation of SMA patients who previously had no approved therapeutic options.
When Jesse's team recommended the switch, a newly FDA-approved higher-dose regimen of Spinraza had just become available — one that significantly streamlined the loading dose schedule. "Instead of four loading doses two months apart, it was only two loading doses two weeks apart, and then the maintenance would be every four months," Lupita says. "It felt like a sign from God and such a blessing." The simplified schedule was not only more convenient but reduced the number of intrathecal injections Jesse would need during the critical early phase of treatment.
Rapid Progress After Switching to Spinraza
Jesse received his first Spinraza treatment at just over 15 months old. The results came faster than anyone anticipated. "Within just a couple of weeks of making the switch, Jesse made the fastest progress we'd ever seen," Lupita recalls. "It was amazing to watch and it just showed us that every child with SMA has their own journey."
The progress continued to build, and on June 26, Jesse — now 17 months old — took his first independent steps. The moment represented far more than a developmental milestone; it was a testament to what modern medicine, an unwavering care team, and a determined family can accomplish together. "He keeps getting stronger," Lupita says, describing a child who has defied the historical trajectory of his diagnosis.
A Multidisciplinary Care Team That Never Let Them Walk Alone
Lupita is emphatic in crediting the comprehensive support network that surrounded Jesse throughout his journey. His care team includes his pediatrician, a dedicated neurology team, a physical therapist, an occupational therapist, and a pulmonology team — specialists who together address the wide-ranging physical systems that SMA can affect. "They have been there every step of the way," she says. "This journey has not been easy, but I'm so thankful to God that we have never walked it alone."
The multidisciplinary approach to SMA care reflects broader advances in how clinicians now manage the condition. Early intervention, newborn screening programs, and the availability of disease-modifying therapies like Spinraza have collectively transformed SMA from a condition with a near-certain fatal prognosis into one where affected children are increasingly reaching developmental milestones once thought impossible.
Lupita's Mission: Raising Awareness and Giving Other Families Hope
Having navigated the fear, grief, and uncertainty of an SMA diagnosis firsthand, Lupita has channeled her experience into advocacy. She actively raises awareness for the condition and reaches out to other parents who are facing the same overwhelming news she once received. She also shares glimpses of Jesse's journey on TikTok, building a community of families navigating rare neuromuscular diseases. "I know how scary this whole journey is," she says. "I want to encourage other families to not lose hope and remind them that SMA doesn't define our babies."
Her message is grounded in the reality she has lived: that an SMA diagnosis, as frightening as it is, is not the end of a child's story. It is important, she emphasizes, for parents to ask questions, trust their medical teams, and advocate for the treatment path that feels right for their child. "Every child with SMA has their own journey," she says, "so it's important to just ask questions, trust your team of doctors and choose what you feel is best for your child."
Looking Ahead: A Future Defined by Possibility
The Vasquez family is taking Jesse's future one day at a time, celebrating each new development as it comes. Lupita describes her son as "so stubborn, funny, happy, strong and determined" — a personality that shines through despite, and perhaps because of, the challenges he has already faced in his short life. She holds onto the hope that Jesse will grow up knowing no limits.
"He already loves soccer so much, and I hope one day I get to cheer him on from the sidelines just like I do with his big brother," she says. "Whether that's soccer or something else, I just want him to grow up believing in himself and never let his diagnosis define what he can accomplish." For now, those first steps — small in distance, enormous in meaning — have given the entire family reason to believe that everything, as Lupita puts it, will be okay.
Frequently Asked Questions (FAQ)
What is spinal muscular atrophy (SMA)?
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder caused by mutations in the SMN1 gene, which leads to insufficient production of survival motor neuron (SMN) protein. Without this protein, motor neurons in the spinal cord degenerate, resulting in progressive muscle weakness and atrophy. It affects approximately one in 10,000 live births.
What is SMA Type 1, and how severe is it?
SMA Type 1, also called Werdnig-Hoffmann disease, is the most severe form of spinal muscular atrophy. Symptoms typically appear within the first six months of life and include limited head control, low muscle tone, and difficulty swallowing and breathing. Before modern treatments became available, most infants with Type 1 did not survive beyond two years of age.
What is Spinraza and how does it work?
Spinraza (nusinersen) is an antisense oligonucleotide (ASO) therapy that became the first FDA-approved treatment for SMA in December 2016. It is delivered via intrathecal injection directly into the cerebrospinal fluid surrounding the spinal cord. Spinraza works by modifying pre-mRNA splicing to increase the production of functional SMN protein, which helps compensate for the defective SMN1 gene responsible for SMA.
How quickly can children respond to Spinraza treatment?
Response times vary by individual, but Jesse Vasquez began showing his fastest developmental progress within just a couple of weeks of starting Spinraza at 15 months old, going on to take his first independent steps at 17 months. His mother, Lupita, notes that every child with SMA has their own unique timeline and journey.
What specialists are typically involved in caring for a child with SMA?
Children with SMA typically require a multidisciplinary care team. Jesse's team at Cook Children's Health Care System in Fort Worth, Texas, includes a pediatrician, neurologist, physical therapist, occupational therapist, and pulmonologist. This comprehensive approach addresses the wide range of physical systems that SMA can affect, from motor function to respiratory health.
Is SMA detected through newborn screening?
Yes, SMA can be detected through newborn screening programs, which is how Jesse Vasquez was diagnosed just seven days after birth. Early detection is critical because initiating treatment before symptoms appear — or as early as possible — significantly improves outcomes for affected infants.
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