Alberta Rare Disease Summit: Turning the Conversation into Action
Alberta's first Rare Disease Summit brought patients, caregivers, government, health leaders, clinicians, researchers, industry and advocacy organizations together to talk about what needs to change in rare disease care. CanPKU+ was there to help bring your voice to the table.
Your voice at the Summit | What we heard | What this means for our community | Our perspective | Alberta advocacy
Bringing Your Voice to the Table
On August 5, 2026, the Government of Alberta hosted its first Rare Disease Summit in Calgary. Participants represented government, health agencies, research, clinical care, industry, advocacy and education organizations, as well as patients and caregivers.
John Adams and Maya Pazouki attended the Summit on behalf of CanPKU+, helping to bring your voice and the experiences of people and families affected by PKU, HCU, MSUD and UCDs into the conversation.
Representation matters, but so does what happens after the meeting. The Summit summary gives us a clearer picture of where future discussions may be headed and where our community needs to remain engaged.
What We Heard
The Government of Alberta's Rare Disease Summit: What We Heard Summary identifies several themes that closely reflect issues our community has been raising.
Earlier diagnosis & expanded screening
This is a major dividing line within our community. PKU has long benefited from newborn screening, while families affected by conditions such as HCU and many UCDs can face a very different path to diagnosis.
The Summit identified earlier diagnosis and expanded screening as a priority, including exploration of the Alberta Newborn Screening Program, genomic analysis, genetic testing pathways, laboratory capacity and data sharing.
Timely & equitable access to therapies and supports
Access does not end with Health Canada approval. Families living with inherited metabolic disorders know how much treatment access can depend on where someone lives, their age, their condition and the funding pathway involved.
Summit participants raised concerns about delays related to regulation, approvals, reimbursement, funding and coverage. They also noted that access challenges can vary by jurisdiction, age, condition, geography and funding pathway.
Care navigation & coordinated pathways
Rare disease care can require families to navigate specialists, metabolic clinics, dietitians, testing, treatment, funding programs and other services.
The Summit described rare disease care as fragmented and difficult to navigate and identified coordinated care pathways as an important area for future discussion.
Research, registries & clinical trials
Alberta's strengths in data, genomics, research capacity, clinical trials and innovation were highlighted during the Summit. Participants also identified opportunities to strengthen the connections between research, data, clinical care and patient outcomes.
Adult care & lifelong transitions
Adult rare disease care emerged strongly enough through written feedback to be identified as a standalone theme. The feedback highlighted adult diagnosis, access to specialized care and supports, coordination across services, and transitions between paediatric and adult care.
PKU, HCU, MSUD and UCDs do not end at age 18. Lifelong metabolic care requires systems designed for adults as well as children, including continued access to specialized clinical and nutritional support.
Meaningful inclusion of lived experience
Written submissions emphasized the importance of involving people with lived experience, caregivers and patient organizations throughout planning, implementation and evaluation.
This matters. Lived experience can identify barriers that may not be visible from inside the health system, help shape practical solutions and help determine whether changes are actually working for the people they are intended to serve.
What This Means for Our Community
For people and families living with PKU, HCU, MSUD and UCDs, these are not abstract policy themes.
They can mean whether a child is diagnosed before becoming ill, whether an approved treatment can actually be accessed, whether specialized care is available close to home, whether someone continues to receive appropriate metabolic support as an adult, and whether families have an opportunity to participate in research and clinical trials.
They also reinforce why our community needs to be involved when governments and health systems begin designing solutions. The people who live with these systems every day bring knowledge that cannot be captured through policy or clinical data alone.
Our Perspective
The summary describes our families' lives accurately: the screening gap between PKU and conditions like HCU and the UCDs, funding that varies by province, and the cliff at transition to adult care.
But describing the problems is not the same as committing to fix them.
Real impact will depend on whether the promised follow-up engagement happens, and whether our community shows up with specific priorities and solutions so this becomes a document that drives action, rather than simply a well-written summary of the challenges we already know.
The Summit summary says participants viewed the event as potentially the beginning of a larger conversation. The Government of Alberta has indicated that future opportunities to participate in engagement about rare disease care in Alberta will be shared.
That gives us an opportunity to be ready with more than a list of challenges. We need to identify priorities, provide real examples of where systems are working or failing, and bring forward practical solutions grounded in lived experience.
Alberta Families: We Need Your Voice
Do you live in Alberta and have lived experience with PKU, HCU, MSUD or a UCD?
CanPKU+ is strengthening our Alberta advocacy network so that when opportunities for engagement arise, our community is ready.
You do not need to be an experienced advocate. You may be a person living with one of these conditions, a parent or caregiver, an adult who has experienced gaps in metabolic care, or someone willing to share what is working and what needs to change.
Participation can look different for everyone. You might share your experience with CanPKU+, help identify Alberta-specific priorities, review an advocacy submission, participate in a meeting, or speak directly about your experience when an opportunity arises.
John and Maya helped bring your voice to the first Alberta Rare Disease Summit. We want even more Alberta voices ready for the conversations that come next.
Join Alberta AdvocacyOr email advocacy@canpku.org with Alberta Advocacy in the subject line.
Source:
Government of Alberta. Rare Disease Summit: What We Heard
Summary. August 5, 2026.
The Summit summary reports that future opportunities to participate in engagement about rare disease care in Alberta will be shared. Questions and additional feedback may also be directed to Alberta Health at AlbertaHealth@gov.ab.ca.
CanPKU+ note: Commentary and interpretation in this article reflect the CanPKU+ perspective on the published Summit summary and the relevance of its themes to the communities we serve.
