Spinal muscular atrophy: newborn screening for early detection and treatment
Melissa Currie
Communications Manager at VCGS
Babies diagnosed with SMA typically show symptoms within the first six months of life. Without treatment, these infants usually do not survive beyond the age of two. The landscape is changing, however. SMA is now treatable, and early detection and treatment can make a big difference to the outcome.
"If we had the opportunity to have her screened at birth and treated straight away, I am certain she would lead a typical childhood today. Unfortunately, we missed that window in the first three months."
- Adriana Baron, mother of Mariana (4), diagnosed with spinal muscular atrophy
Mariana was born in March 2020, just as the World Health Organisation declared COVID-19 a pandemic.
Following her birth, Mariana had an Apgar assessment. This is a standard procedure evaluating her immediate health by looking at her skin colour, pulse, breathing, muscle tone, and reflex response. She received a score within the normal range.
Mariana's mother Adriana assumed all was well and chose to bring Mariana home to be with her dad and older sister, Valentina.
Something wasn’t right
During the initial weeks at home, life revolved around typical newborn routines: sleep deprivation, frequent nappy changes, and feeding sessions. “It wasn’t until I was putting together a photo collage and had Mariana’s photo next to Valentina’s photo at the same age that I realised Mariana wasn’t lifting her head,” says Adriana.
Adriana also recalls the occasions when Mariana did 'tummy time,' a crucial activity for babies to enhance neck and shoulder muscles and advance their motor skills. “She wasn’t lifting her head,” says Adriana. “I was thinking, ‘something’s not right here.’”
Adriana attempted various methods to encourage Mariana to raise her head, but none afforded positive results. “One day, as she cried and cried, Mariana looked at me, and at that moment it felt as if she was communicating, conveying, ‘I can't do it,’” remembers Adriana.
Pictured: Valentina at two months old.
Pictured: Mariana not able to lift her head at the same age.
Diagnosis
Because of COVID-19 lockdowns, Adriana couldn't take Mariana to see the general practitioner (GP) but was able to send a video. The GP noticed Mariana wasn’t moving her legs. Despite a 6-month waitlist, the GP prioritised Mariana's speedy referral to a paediatrician.
The paediatrician suggested it could be one out of three conditions – spinal muscular atrophy (SMA) being one of them. “At the time, I had no idea what SMA was,” says Adriana.
The hospital neurologist and the test confirmed Marina had SMA. She was three months old.
Understanding SMA
SMA is a genetic disorder affecting the nerves that control muscle movement. In Australia, approximately one in 40 people carry the altered gene responsible for the condition.
Infants with SMA typically display symptoms within their first six months of life. Without intervention, their life expectancy is rarely beyond two years. However, advancements in treatment since 2018 have significantly improved outcomes, emphasising the importance of early detection and intervention.
Perspective shift
The SMA diagnosis profoundly altered life for Adriana and her family. "When you have a baby, you don't think about these things. You assume you’re going to have a typical child and look forward to milestones like their first steps," says Adriana. "Instead, we were unsure about whether or not she would live."
The neurologist advised Adriana and her husband of their options: they could admit Mariana to hospital for disease-modifying therapy or seek a palliative care approach. “That’s when everything changed,” says Adriana. “At that point, you start asking yourself, ‘How can I save her life?’ and ‘How can I make her life better than what the doctors say it can be?”.
Babies with SMA experience severe muscle weakness, often resulting in the inability to reach essential developmental milestones such as head control, rolling, or sitting up without help. “Just imagining Mariana’s life like that was very overwhelming,” says Adriana.
Treatment
Adriana and her husband began researching and connecting with other SMA community parents to understand the condition better. Empowered by this knowledge, they chose to pursue treatment for Mariana.
Nusinersen, a disease-modifying therapy for all types of SMA was first made available through the pharmaceutical benefits scheme (PBS) in 2018. Mariana received treatment when she was three and a half months old.
During this period, Adriana and her husband became aware of a gene therapy treatment known as onasemnogene abeparvovec being administered to children with SMA in the United States. They also learned that some Australian children had received this treatment. “We started to plan how we could get funding,” says Adriana. “Mariana didn’t have feeding or breathing issues, and we wanted to preserve those functions.”
With the guidance of Mariana's neurologist, they applied for a government program to secure funding. Before becoming accessible through the PBS in March 2022, onasemnogene abeparvovec had a price tag of $2.5 million per treatment. With government support, Mariana received treatment when she was eight months old.
Pictured: Mariana, at eight months old, being treated with onasemnogene abeparvovec, a gene therapy.
Dr. Eppie Yiu, Mariana's neurologist and lead of the neuromuscular program at The Royal Children's Hospital Melbourne, highlights the remarkable progress in treating SMA thanks to approved disease-modifying therapies. “In the past, babies with SMA did not survive beyond the age of two, but today we see these children not only survive into childhood, but also thrive and have great quality of life. Children with infantile onset SMA who participated in the early clinical trials are now attending school which is wonderful to see. We know that early treatment results in better outcomes, which is why newborn screening for SMA is so important.” says Dr Yiu.
These days
Mariana is now nearly four years old. “She’s a little miracle,” says Adriana. “She walks and almost runs. She’s very close to a typical child.”
"If we had the opportunity to have her screened at birth and treated straight away, I am certain she would lead a typical childhood today. Unfortunately, we missed that window in the first three months."
Pictured: Mariana, these days. Aged (nearly) four with mother, Adriana.
SMA now part of newborn screening
The recent inclusion of SMA in the newborn screening program at VCGS offers every newborn in Victoria screening for SMA within their first few days of life. This allows timely detection and treatment during this critical period.
“We take great pride in testing for life-threatening conditions through our newborn screening program at VCGS and opening up the path to effective treatments,” says Dr. Meg Wall, Executive General Manager - Laboratory at VCGS. “Adding SMA to our newborn screening program underscores our commitment to getting our smallest patients in Victoria off to the best possible start in life.”