In this special wrap-up episode of Rare Awareness Radio’s CANPKU+ series, we reconnect with Nicole Pallone and Tanya Chute Nagy from the leadership team at CANPKU+ to reflect on the powerful conversations, stories, and lessons shared throughout the series.

Together, we explore the realities of living with PKU and rare metabolic disorders, the importance of advocacy and community, the ongoing fight for equitable access to treatment, and the hope emerging through research and innovation.

This conversation goes beyond healthcare. It’s about resilience, parent advocacy, sustainability, human connection, and the extraordinary strength of families navigating the rare disease journey every single day.

Throughout the series, we’ve had the privilege of speaking with advocates, clinicians, researchers, and caregivers who are helping shape the future of rare disease awareness and support. In this final chapter, Nicole and Tanya help us bring those conversations together while reminding listeners that no family should ever feel alone in this journey.

Topics include:

• PKU Awareness Month

• Rare disease advocacy

• Equity and access to care

• Community-building and patient support

• Research and emerging treatments

• The emotional realities of caregiving

• The future of PKU treatment and rare disease innovation

Learn more about CANPKU+ and support their mission at https://canpku.org/

#RareDisease #PKU #RareAwarenessRadio #CANPKU #PatientAdvocacy #MetabolicDisorders #RareDiseaseAwareness #HealthcareEquity #PKUAwarenessMonth #CommunitySupport

What if the biggest breakthroughs in rare disease aren’t just new treatments… but better data, stronger collaboration, and listening to patients?

In this powerful episode, we sit down with Dr. Beth Potter, a leading researcher at the University of Ottawa, to uncover the hidden engine driving rare disease progress: registries, research, and real-world evidence.

From the early days of newborn screening to today’s rapidly evolving treatment landscape, Dr. Potter takes us inside the fight to better understand conditions like PKU (Phenylketonuria)—and why we’re still far from “solving” them.

In this episode, we explore:

Why rare disease registries could change everything

The truth about living with PKU beyond childhood

How patient voices are reshaping research priorities

The barriers no one talks about (data, privacy, fragmented systems)

Why collaboration—not competition—is the future of rare disease innovation

The takeaway?

Breakthroughs don’t happen in silos. They happen when researchers, patients, and communities come together—globally.

This episode is part of our ongoing series with CanPKU+ and the INFORM RARE Research Network, spotlighting the people pushing rare disease research forward.

🎧 Whether you're in healthcare, research, policy—or part of the rare disease community—this conversation will change how you think about progress.

👉 Listen now. Share widely. Be part of the movement.

For more on CanPKU+, visit - https://canpku.org/

For more on INFORM RARE, please visit - https://www.informrare.ca/

#RareDisease #PKU #HealthcareInnovation #PublicHealth #PatientVoice #ResearchMatters #RareAwarenessRadio

How can rare disease research become more human, more effective, and more accountable to the people it’s meant to serve?

In this powerful episode of Rare Awareness Radio, host Richard Juknavorian speaks with Maureen Smith, a lifelong rare disease advocate whose journey began as a child participant in clinical trials and evolved into decades of leadership in patient-partnered research. From her own lived experience with an ultra-rare condition to her national work advancing research collaboration, Maureen offers a compelling vision for the future of rare disease innovation.

Together, Richard and Maureen explore why patients must be more than research subjects—they must be true partners in study design, governance, clinical trials, and outcome measurement. Maureen shares lessons from her work with CANPKU+, including the development of registries, core outcome sets, youth engagement initiatives, and strategies to reduce power imbalances between institutions and families.

This conversation also tackles urgent questions about funding, tokenism, transparency, and how research priorities should be driven by real, unmet needs—not by academic curiosity alone. Maureen’s insights are practical, passionate, and deeply earned.

If you care about patient-centered healthcare, rare disease advocacy, clinical research reform, or the power of lived experience, this is an episode you won’t want to miss.

More on CANPKU+: https://canpku.org/

More on Rare Awareness Radio: https://rareawarenessradio.org/

#RareAwarenessRadio #RareDisease #PatientAdvocacy #ClinicalResearch #RareDiseaseResearch #PatientEngagement #PKU #CANPKU #HealthcareInnovation #ResearchPartnerships

For eight years, Melanie Colter searched for answers.

Her son Mason was living with Homocystinuria (HCU)—a rare metabolic disorder that often goes undetected—but no one knew it yet. There were no obvious warning signs, no dramatic turning points. Just a quiet, invisible risk beneath what appeared to be a normal childhood.

Until a routine eye appointment changed everything.

In this episode of Rare Awareness Radio, we sit down with Melanie to explore the emotional and medical journey of delayed diagnosis—the uncertainty, the frustration, and the resilience required to keep pushing for answers when the system falls short. She shares what it means to parent a child with HCU, where something as fundamental as protein intake must be carefully managed, and how families learn to navigate a life that balances vigilance with normalcy.

But this conversation goes beyond diagnosis.

It’s about transformation—from uncertainty to empowerment. From searching for answers to becoming an advocate. Melanie opens up about how she’s using her voice and experience to support other families facing similar challenges, ensuring that fewer children go undiagnosed and unsupported.

This is a powerful story of persistence, perspective, and purpose.

🎧 Listen, learn, and share to help raise awareness for rare diseases like HCU.

👉 To learn more, access resources, and support the PKU and HCU community, visit CanPKU+:

https://canpku.org/

For more information on Rare Awareness Radio, please visit https://rareawarenessradio.org/ and https://resonancefound.org/

#RareAwarenessRadio #RareDisease #HCU #Homocystinuria #PatientAdvocacy #CaregiverStories #RareDiseaseAwareness

What happens when a routine newborn screening call changes your life forever?

In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with two powerful advocates in the PKU community — Nicole Pallone and Tanya Chute Nagy from CanPKU+.

Both Nicole and Tanya are parents of children living with Phenylketonuria (PKU) — a rare genetic metabolic disorder that requires lifelong dietary management and constant vigilance. What began as a deeply personal journey for their families has grown into a mission to support thousands of others navigating the same path.

Nicole serves as Chair of the Board, and Tanya serves as CEO and President of CanPKU+, a national organization dedicated to education, advocacy, research awareness, and community support for individuals and families affected by PKU and allied disorders.

In this powerful conversation, we explore:

• The moment parents receive the PKU diagnosis

• What daily life managing PKU really looks like

• The emotional journey families experience after diagnosis

• Why community support is critical in rare diseases

• The advocacy work happening across Canada

• How parents transform into leaders and change-makers

Rare diseases can often feel isolating — but stories like these remind us that community, advocacy, and shared knowledge can change everything.

CALL TO ACTION

If you want to learn more about PKU, support families living with the condition, or get involved in advocacy efforts, please visit:

https://canpku.org

You’ll find resources, programs, and ways to support the incredible work being done for the PKU community.

About Rare Awareness Radio

Rare Awareness Radio brings together patients, families, researchers, clinicians, and advocates working to advance awareness, understanding, and progress across the rare disease community.

Each episode shares real stories and real voices from those living and leading in the rare disease space.

Please visit - https://rareawarenessradio.org/

If you found this conversation meaningful:

• Like the video

• Subscribe to the channel

• Share this episode with someone who cares about rare disease awareness

Every share helps amplify these important voices.

#RareDisease

#PKU

#Phenylketonuria

#RareDiseaseAwareness

#MetabolicDisorders

#PKUCommunity

#PatientAdvocacy

#RareAwarenessRadio

Episode Description

In this episode of Rare Awareness Radio, host Richard Juknavorian sits down with John Adams, a passionate advocate and leader with CANPKU+, the Canadian organization supporting individuals and families affected by phenylketonuria (PKU) and related metabolic disorders.

John’s journey into rare disease advocacy began when his son was diagnosed with PKU shortly after birth through newborn screening. What started as a deeply personal experience quickly evolved into decades of advocacy—working to improve awareness, policy, treatment access, and outcomes for families living with rare metabolic conditions.

In this conversation, John shares powerful stories from his family’s journey, including the challenges of navigating a rare diagnosis, the evolution of PKU treatment, and the life-changing impact of medical innovation. He also discusses the critical role of newborn screening, the importance of community and patient organizations, and why advocacy remains essential in advancing research and improving care for people living with rare diseases.

John’s perspective is shaped not only by his son’s experience with PKU, but also by his own complex health journey and years of working to build stronger support systems for families across Canada and beyond.

This episode highlights the power of persistence, patient advocacy, and the global rare disease community working together to drive meaningful change.

🎧 Listen now and learn more about PKU, rare disease advocacy, and the people pushing the boundaries of innovation and care.

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### About Rare Awareness Radio

**Rare Awareness Radio** is dedicated to amplifying the voices of patients, advocates, researchers, and innovators working to improve the lives of people living with rare diseases. Find out more at: https://rareawarenessradio.org/

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### Topics Covered

• Phenylketonuria (PKU)

• Newborn screening and early diagnosis

• Patient advocacy and policy

• Rare disease innovation and drug development

• Building community for rare disease families

CANPKU+: https://www.canpku.org

#RareDisease #PKU #Phenylketonuria #RareAwareness #PatientAdvocacy #NewbornScreening #HealthInnovation #RareDiseaseCommunity

Jordan Kruse | Fighting for a Cure for OTCD

What happens when a newborn appears perfectly healthy… and within days everything changes?

In this episode of Rare Awareness Radio, we speak with Jordan Kruse, a mother, educator, and advocate whose son Pruitt was diagnosed with OTCD (Ornithine Transcarbamylase Deficiency) — a rare genetic disorder that prevents the body from safely removing ammonia. Elevated ammonia levels can rapidly become toxic to the brain, and early detection can mean the difference between survival and tragedy.

Pruitt passed his newborn screening and showed no immediate warning signs. But when subtle feeding and breathing changes appeared, Jordan trusted her instincts. By the time ammonia testing was performed, his levels were critically high — a delay that reshaped her family’s life forever.

Out of that loss, Jordan and her husband founded the Brave Little One Foundation to:

• Raise awareness of OTCD and urea cycle disorders

• Advocate for earlier ammonia testing in newborn emergencies

• Support families navigating serious pediatric medical conditions

• Help move research closer to a cure

This conversation is about more than one family’s story —

It’s about recognition, advocacy, community, and the impact of rare disease awareness on saving lives.

If you work in healthcare, are a parent, or simply want to understand why rare disease education matters, this episode is essential listening.

Learn More & Support:

Brave Little One Foundation: https://sites.google.com/view/thebrav...

Follow on Instagram: https://www.instagram.com/brave.littleone/

CureOTCD: https://cureotcd.com/

Episode Title: Advancing Hope Through Science: Dr. Bruce Morimoto on V-ATPase Disorders

Episode Description:

In this episode of Rare Awareness Radio, host Richard Juknavorian speaks with Dr. Bruce Morimoto, a translational medicine expert with nearly 30 years of experience in CNS drug development, about the science, challenges, and hope surrounding ultra-rare V-ATPase–related neurological disorders.

Dr. Morimoto, who serves on the scientific board of the V-ATPase Alliance, helps break down the complex biology behind these disorders in a way that families, caregivers, and advocates can understand. He explains how mutations that occur in utero affect critical cellular machinery, contributing to developmental delays, seizures, and other neurological symptoms.

The conversation explores:

🔬 Why basic science research is the foundation for future treatments

🧬 The growing promise of personalized medicine and oligonucleotide-based therapies

📊 The importance of patient journey data and biological sample collection

🏥 How clinical trials must be designed around what truly matters to patients and families

🤝 The power of collaboration across researchers, clinicians, regulators, and rare disease communities

💙 The critical need for caregiver support and connection so families don’t feel alone

Dr. Morimoto also shares a hopeful five-year vision: stronger global networks, deeper biological understanding, shared learnings across diseases like Parkinson’s and ALS, and the first meaningful therapeutic efforts emerging for this community.

This episode is a reminder that progress in rare disease doesn’t happen in isolation — it happens through science, shared data, and people who refuse to give up.

🎧 Listen in to learn how momentum is building — and why awareness, community, and research today can shape treatments tomorrow. For more information, please visit https://vatpasealliance.org/

In this episode of Rare Awareness Radio, Richard speaks with Beth McKenzie and Dave Robertson, parents of Lucy and active members of the V-ATPase Alliance, a global, parent-led organization dedicated to research, advocacy, and community for families affected by rare V-ATPase genetic conditions.

Beth, a longtime special education teacher, and Dave, a third-year medical student who transitioned from a career in oil and gas after Lucy’s diagnosis, share an honest and heartfelt look at their family’s journey. They reflect on the “diagnostic odyssey,” the challenges of navigating an ultra-rare condition, and the profound relief of finding a community through the V-ATPase Alliance.

The conversation offers a window into daily life — from coordinating complex medical care and feeding support, to the importance of school, family, and community in Lucy’s life. Beth and Dave also discuss the power of parent-to-parent “life hacks,” the emotional weight of uncertainty, and the hope they hold for research that could one day benefit their daughter and others like her.

Above all, this episode is a testament to resilience, empathy, and collective action — showing how families transform personal challenges into shared purpose, connection, and advocacy.

For more information, please vist https://vatpasealliance.org/

In this episode of Rare Awareness Radio, Richard Juknavorian sits down with Ana Rita Moreira Moreira, Founder, Co-Founder, and President of the v-ATPase Alliance — a volunteer-led global advocacy and research movement she built alongside neuroscientist Luis Oliveira and advocate Kristin Anderson.

Ana Rita shares the story of their son Danny, one of only 27 children in the world living with an ultra-rare genetic mutation in the ATP6V0C gene — a diagnosis that came with no name, no roadmap, and almost no answers. What Ana Rita did next changed everything.

With a rare blend of economics, brand communications, and founder intuition, she helped transform isolation into organized action: launching a multilingual website in 100+ languages, mobilizing families across continents, collecting patient-reported outcomes, securing EMRs through AI-enabled platforms like Citizen, and building a centralized bio-repository to de-risk and accelerate research investment.

This conversation captures the heart of the rare-disease community — where connection beats competition, small victories become shared milestones, and hope turns into momentum.

Call to Action:

If you’re a parent, advocate, researcher, clinician, or volunteer with expertise in legal, accounting, research, marketing, operations, or tech — your contribution matters. Even a few hours can help power the impossible.

Find the Alliance:

v-ATPase Alliance Website - https://vatpasealliance.org/

v-ATPase Alliance on Social Media - https://www.instagram.com/vatpasealliance

Hosted by: Richard Juknavorian

Podcast produced in partnership with: Principled Research Resources

Let’s amplify. Let’s accelerate. Let’s support every family where they are — and move rare knowledge forward, faster.