In anticipation of gene therapy, Hope gives to the Van Sask family. Boy with rare ‘Childhood Alzheimer’s’

Stephanie McCabe and Andre Doucette were prepared for the worst when they learned that their six-year-old son Emmett had Sanfilippo syndrome, a rare genetic disease that affects the brain and nervous system. They knew that most children with this disease do not live beyond their teenage years, and they had accepted that Emmett’s life would be short.

However, their outlook changed when they heard about a gene therapy treatment that was undergoing an accelerated approval process with the US Food and Drug Administration. This treatment, if approved, would be the first available for children with Sanfilippo Syndrome like Emmett.

For the family, this treatment represents hope for a better quality of life for Emmett. Although it may not reverse the damage he has already experienced, studies have shown that it can significantly improve cognitive skills. The delay in the FDA approval process has been difficult for the family, as every day counts for children with this disease.

While there are research efforts underway in Canada, including at the Elisa Linton Sanfilippo Research Laboratory in Montreal, treatment options are still in the early stages. The family believes that the gene therapy treatment in the US is currently the best option for Emmett.

To access this treatment, the family has had to navigate the healthcare system and work with government officials to secure funding. The process has been positive so far, but the cost of the treatment remains a significant barrier. Similar gene therapy treatments for other conditions have cost millions of dollars, making it a daunting prospect for the family.

Despite the challenges, the family remains focused on getting the most out of Emmett’s childhood. The prospect of treatment has changed their outlook and given them hope for a brighter future for Emmett. They are determined to do whatever it takes to give him the best possible chance at a fulfilling life.

Overall, the journey of the McCabe-Doucette family showcases the resilience and determination of parents facing the challenges of a rare disease. Their story is a reminder of the importance of advocating for innovative treatments and never giving up hope for a better tomorrow.