Co-Chair of the Board | HCU Representative | CanPKU+ Board Member

We are incredibly fortunate to have Melanie Colter on the CanPKU+ Board of Directors. She tackles every challenge with compassion, grit, and unwavering resilience.

Melanie serves as Co-Chair of the Board, HCU Representative, and general board member, bringing both leadership and lived experience to her roles. She is also a member of the Global Scientific Advisory Board with HCU Network America, helping direct Canadian-raised funds toward HCU research. In this capacity, she plays a pivotal role in advancing research by:

• Calling for expressions of interest from researchers
• Reviewing submissions to ensure scientific merit
• Recommending funding decisions that determine which HCU projects receive support

A passionate advocate for newborn screening, Melanie has spoken at both provincial and federal government levels and has delivered presentations in multiple provinces to ensure that every baby born in Canada has access to HCU testing during newborn screening (NBS).

Her advocacy is deeply personal. When Melanie took her 8-year-old son, Masen, to a routine eye appointment, she was shocked to learn he had homocystinuria (HCU)—an ultra-rare metabolic disorder that was missed during newborn screening, a situation that affects roughly 50% of babies tested.

The diagnosis came on Mother’s Day and introduced her family to:

• A highly restrictive low-protein diet
• Two eye surgeries just weeks apart
• Daily formula drinks that were difficult to manage

Yet, Melanie’s story is one of resilience and action. Like any devoted mother, her support for Masen has been unwavering, helping him navigate this late diagnosis and all its challenges. Rather than letting this define their family, she has become a driving force for change, working tirelessly to improve newborn screening protocols across Canada so that no other family faces what hers did.

Masen has also shown incredible resilience, following in his mom’s footsteps as a tremendous young advocate for this community - an inspiration to all of us at CanPKU+.

Through her work, Melanie continues to advance research, raise awareness, and strengthen patient advocacy across Canada and internationally, embodying the mission of CanPKU+ and making a tangible difference in the lives of families living with rare metabolic disorders.