Queens infant celebrates milestone birthday amid struggle with rare genetic disease

Screen Shot 2020-09-21 at 10.11.18 AM
Photos courtesy of Ashley Gilio


From social and physical cues, parents can track the developmental milestones their kids pass following their birth. From a baby’s first incoherent gurgle to its fleeting yet determined attempt at their first steps, each parent earnestly witnesses the achievement stages their child undergoes in the transition into toddlerhood. What many parents do not anticipate is failing to see these milestones take place. 

Lucy Gilio of Queens was born Aug. 16 of last year. Barring a lack of expected frequent and energetic kicking, Lucy did not exhibit any worrying indications of any health complications. 

“At birth, she received the typical tests and checkups at the hospital, such as an APGAR score and a physical performed by a pediatrician. There were no remarks or concerns regarding Lucy’s health,” Ashley Gilio, Lucy’s mother, recalled. 

Eleven days following her birth, Lucy’s pediatrician relayed surprising news — screening test results indicated that Lucy was afflicted with spinal muscular atrophy (SMA) type 1, a neuromuscular disease that is progeny of a rare genetic mutation with a grim prognosis of death before a baby’s second birthday. 

Had Lucy not been screened at such an early period in her life, Gilio said, even by a mere difference of a few months, the disease could have progressed rampantly and could have claimed Lucy’s life.

“When it comes to SMA, time is everything,” Gilio said. 

SMA1 — one of the most aggressive forms of the disease —  quickly deteriorates motor neurons in the brain, consequently leading babies to lose conviction over the mobility of their limbs, grow increasingly weak, and eventually lose the ability to autonomously swallow, chew, and ultimately breathe. 

When the body lacks the surviving motor neuron 1 (SMN1) gene, it relies on the SMN2 genes to pick up the slack, but these genes only compensate for a meager 10 percent of the SMN protein production in comparison to the SMN1 gene which leads to the aforementioned complications. 

Left untreated, this disease can cause death from chronic respiratory insufficiency or make the need for feeding support and permanent ventilation by the age of 2 in more than 90% of cases. 

Despite being largely unheard of, SMA is estimated to affect 10,000 to 25,000 children and adults in the United States alone, according to the SMA Foundation. The National Human Genome Research Institute reported that one in 6,000 to one in 10,000 children are born with SMA. In an oxymoronic manner, this makes SMA one of the most common rare diseases. 

According to Cure SMA, SMA is inherited in an autosomal recessive pattern in families. In other words, a baby diagnosed with SMA inherited two mutated non-functioning renditions of the surviving motor neuron 1 (SMN1) gene from each parent. A DNA test can detect carriers of SMA and other genetic diseases.

The American College of Obstetricians and Gynecologists states that approximately one in 40 to one in 60 people are carriers of SMA. If both parents are carriers of the disease, there is a 50 percent chance a child will be a carrier, a 25 percent chance of procreating a child with SMA, and a remaining 25 percent chance that the child will not be affected.

When Lucy’s neurologist gave Lucy’s parents the rundown of SMA1 and the unfavorable statistics, Gilio was shocked at the severity of the disease. Despite the bleak prognosis, she and her husband continued to pursue treatment with Lucy’s care team as well as conducting their own research to adequately make informed decisions regarding Lucy’s treatment options. 

The Gilio’s said they had the unwavering support from family and friends and that they received advice and information from organizations such as Cure SMA and SMA parent and caregiver Facebook groups.

“Seeing what other families are going through, how they are making their treatment decisions and the spirit with which they celebrate their children reaching new milestones have brought my husband and I a lot of comfort and hope,” she said. 

When it came time to decide on a treatment plan, the Gilio family decided on Zolgensma, a one-time gene therapy treatment option via intravenous insertion for children under two years old approved by the Food and Drug Administration (FDA) in 2019.

The drug works by targeting the genetic origin of the disease and replacing the non-working or missing SMN1 gene. To learn more about SMA and Zolgensma, visit the Zolgensma website here.

“We decided on Zolgensma because it is a one-time-only infusion that has been seeing promising results,” Gilio said. “At the time, my husband and I were noticing the positive conversations taking place in our Facebook groups around Zolgensma, and that it seemed to be helping SMA kids without too many adverse effects.”

Following her treatment, Lucy can now be found saying words like “peekaboo,” and has adopted the childish inquisition and curiosity seen in many 1-year-olds, asking questions about her surroundings such as “what’s that?” 

“She is one happy baby — we’ll often catch her waving, dancing, and crawling across the floor. She is now beginning to stand with assistance and cruise along the furniture,” Ashley said. “Many of these milestones she is reaching today would’ve been unimaginable, given the progressive nature of SMA, had she not received treatment. As the one-year anniversary of Lucy’s treatment day approaches, we’re thrilled that she is achieving these age-appropriate milestones. ”

For parents whose children are diagnosed with SMA, Gilio encourages them to seek emotional support and all the resources available to them. 

“With SMA being a rare disease, it’s important to have a community to lean on at every stage of your family’s SMA journey,” she said. “As part of that journey, it’s also important to celebrate new milestones that your child has reached or is working on, no matter how small they seem—each one leads to big memories and even bigger possibilities for your child’s future.”

With August being SMA Awareness Month and September being Newborn Screening Awareness Month in the United States, Gilio would like “to reiterate the potentially monumental benefit that testing for SMA as part of the routine newborn screening panel can bring to affected children and their families.”

New York is one of the 32 states that test for SMA with a routine newborn screening panel, and she hopes that Lucy’s story along with those of other children who reside in states that offer screening will galvanize the 18 states that remain to implement screening to “quickly follow suit.”