Rett Syndrome

Learn how the isolation she felt following her daughter’s diagnosis inspired Trish Guimond to ensure that no other family would feel the same way.

Rare disease

Learn about how a heartbreaking encounter with a rare disease family inspired Jonathan to devote his career to Canada’s 1 in 12.

Sickle cell disease

Learn about how Biba’s son Ismäel’s sickle cell journey inspired her to want to effect systemic change for an entire community.

Gaucher disease

Learn about how Christine’s daughters Kate and Meghan inspired her to join the fight for access to treatments for Gaucher disease.

Morquio syndrome (MPS IVA)

Patient Voice spoke with nine-year-old Simon Hoskins and his mother, Becs, about Simon’s journey with Morquio syndrome, the challenges he faces, and how he continues to remain positive and resilient in the face of a rare disease.

CHD2 myoclonic encephalopathy

Patient Voice spoke with Sandra Markus about her son Zach’s ultra-rare disease diagnosis and why it’s proven so hard to find him appropriate support as he ages into adulthood.

Undiagnosed genetic condition

Patient Voice spoke with Jeff Norgren and Michelle Hooey about how their youngest daughter Goldie has changed their lives for the better, and why they’ve chosen to share their rare disease journey with the world.

Scleroderma

Patient Voice spoke with Jackie Alexander about how a scleroderma diagnosis upended her professional life twice, and why she feels fortunate to have found her community.

ALS and Grief

Patient Voice spoke with Hannah Elston about losing her mother, Rosa, to ALS — and how she manages grief five years after her passing.

Trisomy 13

Patient Voice spoke with Robin Koczerginski about his daughter Bree, her ultra-rare diagnosis, and how her experiences inspired him to pursue a career in accessibility.

Faster access to breakthrough therapies is transforming care for Canadians with rare diseases — and the next phase of the RDDS will focus on proving their real-world impact and ensuring that progress becomes permanent.

Authentic friendships, both in-person and online, became a lifeline for me. They offered strength and allyship when I needed them most.‍

Patient Voice spoke with Dr. Lucie Lafay-Cousin about neurofibromatosis type 1 (NF1), a rare genetic condition that is usually diagnosed in childhood.