Spast R499H disease

Navpreet Gill, a mother from British Columbia, shares her heartbreaking journey advocating for her three-year-old son, Gurmo, who suffers from the rare neurodegenerative disease Spast R499H. The condition, caused by a toxic protein buildup, progressively destroys nerves, leading to loss of mobility, speech, and eventually life-sustaining functions. Despite a delayed diagnosis—initially mislabeled as cerebral palsy—Navpreet fought tirelessly to secure a correct identification and access to a groundbreaking gene therapy being developed at McGill University in Montreal. The treatment, tailored specifically to Gurmo’s genetic mutation, is not part of an existing study but a new initiative requiring $8 million in funding, with $2.7 million urgently needed to begin. While the community has rallied with donations and gestures—such as support from Burnaby firefighters and the Vancouver Canucks—Navpreet emphasizes that provincial funding from BC remains unavailable, despite her son being a resident. She calls on the government to step in and fund this life-changing therapy, not only for her son but for other children worldwide with the same rare mutation.