A Life Changed by Early Detection
When Sydney couple Adriana and Adam Sharpe welcomed their first child, they had no idea that their daughter would go on to make history, not once, but twice, by the time she was just four weeks old. Alessia’s journey began with a routine newborn bloodspot screening test, also known as a heel prick test. This simple procedure is designed to detect a range of genetic conditions early in life, allowing for prompt intervention.
Adriana recalls that when she first learned about the test, it was presented as a standard part of the newborn care process. “I didn’t really know much about it, being my first child. They just gave up a pamphlet and said it’s just a routine test,” she said. However, this routine test would soon change the course of their lives.
Seventeen days before Alessia’s birth on August 18, 2018, three new conditions were added to the screening test in New South Wales, including spinal muscular atrophy (SMA). This rare genetic condition affects motor neurons, the nerves in the spinal cord that control muscle movement. Without treatment, babies with the most severe form of SMA typically do not survive beyond 18 months to two years.
A Shocking Diagnosis
Thirteen days after her birth, the family received a call from the paediatrician who had been on duty during Alessia’s delivery. The news was devastating: Alessia had tested positive for SMA. Soon after, they were contacted by Sydney Children’s Hospital at Randwick, urging them to come in immediately.
The family was taken into a room where a neurologist, a genetic counsellor, and a social worker were waiting. They were told that Alessia had the most serious type of SMA, a condition that leads to progressive muscle weakness and can ultimately result in respiratory failure.
“We were just devastated. Our whole world just crumbled,” Adriana said. “I kept asking, ‘Are you sure?’”
Alessia became the first case identified after the introduction of SMA screening in NSW. Before this, babies were only diagnosed when symptoms such as poor muscle tone or developmental delays appeared. For the Sharpe family, the diagnosis came with a mix of fear and hope.
A New Treatment Offers Hope
At the time, the only available treatment was medication delivered via lumbar puncture, which was not very effective for Alessia’s subtype. However, there was news of a new clinical trial involving gene therapy that had just begun in the US and was set to be offered in Australia.
If they agreed to participate in the trial, Alessia would be the first baby in Australia to receive this experimental treatment. With the clock ticking — once a child loses function due to SMA, it cannot be recovered — the family made the decision quickly.
“From that first meeting, it was two weeks later she received the treatment,” Adriana said. “They moved heaven and earth to get it done.”
The treatment involved introducing a functional gene into Alessia’s body using a virus. Both Alessia and Adriana had to undergo tests to ensure they were not immune to the virus used in the treatment. Given her tiny size, the IV for the treatment had to be placed in her head. She slept through the one-hour infusion and spent just one night in the hospital before returning home.
A Milestone Achieved
In the weeks and months that followed, the family closely monitored Alessia’s progress. At first, there was uncertainty around what was then an experimental treatment. “We did not know if the treatment was going to work. It was just a gut instinct,” Adriana said.
However, Alessia met all her milestones, albeit slightly later than other children. Today, there is hardly any sign of the condition that would have claimed her life without treatment. “She does have a little bit of weakness in her legs and hips. You can see when she is running she is a little slower than her peers,” Adriana said.
Now seven years old, Alessia is one of the faces of this year’s Jeans for Genes Day on August 7. This charity raises funds to support research into genetic conditions affecting children. For Adriana, the event is a way to give thanks for the incredible work that has been done in the field of gene therapy.
Looking Ahead
Jeans for Genes Day highlights the importance of early detection and treatment for genetic conditions. Ten years ago, a diagnosis of SMA would have been considered a death sentence. Today, thanks to advances in medical science, the outlook is much more hopeful.
Professor Ian Alexander, head of the CMRI Gene Therapy Research Unit, has been involved in the introduction of SMA screening in NSW and the development of gene therapy trials. He and his team are now working on the next generation of treatments, aiming to improve technology and expand the range of conditions that can be addressed.
For families like the Shapres, early detection and access to innovative treatments have made all the difference. Adriana and Adam are grateful that Alessia’s condition was identified and treated in time. “If she was just born three weeks earlier, it would have been different,” she said.
Their story is a powerful reminder of the impact that early screening and groundbreaking research can have on the lives of children and their families. As they continue to support Jeans for Genes Day, they encourage others to contribute to this vital cause. Every donation helps scientists develop new treatments and improve the lives of children with genetic conditions.