When Emily and Mitch Harrison recently celebrated their son Xavier’s fifth birthday, it marked a significant and cherished milestone for the family. Xavier, a young boy from Sydney, was diagnosed with spinal muscular atrophy (SMA) shortly after birth through a routine heel prick test. This condition is recognised as the most prevalent lethal genetic disease in infants, leading his parents to worry he might not survive past the age of two.
Professor Michelle Farrar presented the Harrisons with an option to join a clinical trial for a medication known as risdiplam. This treatment works by enhancing the body’s ability to produce spinal motor neuron proteins, which is crucial for individuals lacking the SMN1 gene due to SMA. This breakthrough offered a glimmer of hope that seemed improbable.
Under the influence of risdiplam, Xavier has achieved remarkable milestones: he learned to roll, sit, and eventually stand and walk independently. According to Professor Farrar, none of these feats would have been conceivable without the medication. Notably, recent trials indicated that 26 infants treated before showing any symptoms responded positively, with 81 per cent able to sit unassisted, 54 per cent standing, and 42 per cent walking independently after a year of treatment.
Farrar described the progress observed as “dramatic” and filled families with real hope. Risidplam is one of three approved treatments for SMA; however, the others involve more invasive procedures, such as lumbar punctures or infusions, which complicate treatment for a condition that is time-sensitive.
Xavier takes his medication daily, and while the oral drops are part of a lifelong treatment, his medical journey continues. Ongoing research aims to bolster muscle growth, allowing him more prospects for strength and an improved quality of life as he matures. Mr Harrison expressed optimism regarding this development, highlighting the potential for Xavier to lead a more manageable life in the future.
The Harrison family’s experience underlines the positive impact of medical advancements and clinical trials in combating severe genetic disorders, providing hope to many affected families.