In the world of rare diseases, the journey often begins with isolation and fear. For Danielle’s family it started with the devastating and life-altering diagnosis of PPA2 while her daughter Airlie lay in the ICU. It was a moment defined by helplessness and desperation—her doctors had never heard of PPA2 and she was handed a single published paper that stated there were only six known living cases worldwide. In that moment they were faced with the unthinkable: a rare and poorly understood condition with almost no established path forward

Written by Kathleen Simonetti, Danielle Green and Jessica Mehring, members of the PPA2 community.

What is PPA2?

PPA2 (inorganic pyrophosphatase 2) deficiency is an extremely rare genetic disorder that affects cellular function and energy production, typically resulting in sudden cardiac death when triggered by viral infections or alcohol consumption. Because of its rarity, very little is known about the disease, and the symptoms can vary widely from person to person. In many cases, it leads to severe neurological and metabolic complications, often requiring intensive and ongoing medical care. One of the most catastrophic aspects of PPA2 is the severe heart conditions it can cause, including cardiomyopathy and arrhythmias, which, in some cases are only diagnosed post-mortem. The lack of research and documented cases makes it incredibly challenging for families and medical teams to establish effective treatment plans.

The foundation

As a mother, Danielle’s instinct to fight for answers, connection, and hope kicked in immediately. She knew she needed to find others who understood what they were facing and learn everything she could about PPA2 to build an effective medical emergency plan for Airlie. In that search for knowledge and support, she created an online Facebook group. What started with just a handful of members, slowly grew with time as other families desperate for the same answers reached out. The group quickly became a hub for sharing vital information; whether it be treatment plans, insights on symptoms, therapies, or emerging research, creating a collective knowledge base that didn’t exist before. With each new member we gained more data, more understanding, and more hope. Today, this group contains over 69 members, uniting families from across the world – Australia, America, Canada, England, Ireland, Netherlands, and beyond. This includes families who have tragically lost loved ones to PPA2 but still need that vital connection. Together, we grieve, remember, and support one another through the most difficult times.

Taking root

While a void felt like it had been filled by the community that was formed, the support alone wasn’t enough—we needed to advocate for change. After experiencing the loss of three beautiful group members which deeply impacted us all, several of our families decided that the time for change was now. As our network grew, so did our collective voice. We began asking crucial questions: How do we fundraise for research? How can we encourage and support scientific studies into PPA2? How do we ensure the current published data accurately reflects the growing number of diagnosed families? Together, we’ve set these ambitious goals with the hope of driving forward the search for treatment and, ultimately, a cure. Together, through this smaller subset of families advocating for change, the “Heart of PPA2” was born.

Hope blossoms

Receiving a PPA2 diagnosis is completely life altering for a family. It’s not just the fear factor, it’s all the dietary changes, the constant vigilance around germs, and the rush to the hospital with every common childhood illness. Heart of PPA2 helps us to stay connected when it’s so easy to become insular. When we look at advocating for treatments and hope, it’s like piecing together a puzzle. While the Facebook group is considered the “discovery” piece of the puzzle—where our families first connect and how we stay abreast of the more medical side of things—our Heart of PPA2 advocacy group is the “outreach and action” piece, where we are taking pointed steps to make a difference. Awareness, research and community are additional pieces of the puzzle. Each piece, though different in shape and purpose, comes together to create a whole picture of change.

The goal is to help people see that the pursuit of a brighter future is not just about one effort but a unified movement made up of many crucial components. The Heart of PPA2 is a movement of families and advocates determined to shine a light on this ultra-rare disease. Through fundraising initiatives, awareness campaigns, and partnerships with medical professionals, we’re working toward a future where no family facing a PPA2 diagnosis feels alone. Our journey is far from over, but with every connection we make and every step we take toward research and advocacy, we strengthen the heart of this incredible community. For every child and family affected by PPA2, and for the hope of a brighter tomorrow—we will keep fighting.

If you’d like to learn more about the Heart of PPA2, join our community, or support our efforts, please follow our social media page @heartofppa2 

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