Stephanie McCabe and Andre Doucette had come to terms with the grim reality that their young son Emmett, a six-year-old diagnosed with Sanfilippo syndrome, faced a short life expectancy due to the rare genetic disease affecting his brain and nervous system. The syndrome, often likened to childhood Alzheimer’s, leads to developmental delays, regression, and the eventual loss of speech and mobility. With only one known case in Saskatchewan, the family had resigned to making the most of their time together, cherishing every moment with Emmett.
However, their outlook changed when they learned about a gene therapy treatment for Sanfilippo syndrome that was undergoing accelerated approval by the U.S. Food and Drug Administration (FDA). This potential treatment, if approved, would be the first of its kind for children like Emmett with the condition. The family shifted their focus to advocating for access to this groundbreaking therapy, navigating the complexities of government processes and regulations to secure the treatment for Emmett.
Despite their initial hopes for a swift approval, the FDA’s delay in the approval process due to manufacturing concerns has set back the timeline to potentially 2026, causing anxiety for families like the Doucettes. The family emphasized the urgency of time for children with Sanfilippo syndrome, as delays in treatment could result in irreversible loss of skills and abilities.
While Canadian research on Sanfilippo syndrome is ongoing, treatment options are still in the early stages and years away from potential approval by Health Canada. The family remains optimistic about the benefits of the gene therapy, which may not reverse existing damage but could significantly improve Emmett’s cognitive abilities and quality of life.
As they navigate the process of accessing the gene therapy, the family is hopeful that their efforts will lead to a positive outcome for Emmett. They are engaging with local authorities and health officials to seek support for Emmett’s treatment, acknowledging the financial challenges associated with such advanced therapies. Despite the hurdles ahead, the family remains determined to give Emmett the best possible chance at a fulfilling childhood, embracing the hope that the gene therapy holds for their son’s future.