Heart of PPA2

10/30/2026

Happy Birthday Floris 🎈

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10/29/2026

10/29/2026

We are thrilled to share an exciting milestone for Heart of PPA2! We have funded a one-year research study in collaboration with Dr. Van Hove at the University of Colorado Denver, set to start next week!🔬

This study will investigate how pyrophosphate (PPi) is generated in PPA2 deficiency, including the potential contributions of ethanol and acetate, and explore new approaches to reduce its production and the toxicity and dysfunction it may cause.

Why does this matter? Because every step toward understanding the underlying mechanisms of PPA2 brings us closer to identifying new ways to reduce its impact on those living with this devastating condition.

For our PPA2 families, research represents more than scientific discovery. It represents the possibility of answers, new approaches, and a future with more hope.

When Heart of PPA2 was founded, our mission was to turn the fear and uncertainty of a diagnosis into action — to help move research forward and work toward a treatment and, one day, a cure. This study is another meaningful step in that mission. ❤️

We are incredibly grateful to Dr. Van Hove for his collaboration and to everyone who has supported Heart of PPA2. Every donation, fundraiser, share, and act of advocacy helps make research like this possible!

10/26/2026

Exciting news coming soon! 😉

10/23/2026

“Stella was a typical 4-year-old girl. In November 2023, she developed flu-like symptoms that came and went. After about two weeks, I took her to our local ER because of how pale her face had become. She also complained of a tummy ache and had a decreased appetite.

Our local ER did a CT scan and referred us to St. Louis Children’s Hospital for further evaluation. While waiting for an ambulance, Stella became unresponsive, and she was ultimately flown to Children’s.

There, doctors performed an echocardiogram and discovered that her heart was not pumping as it should. Within 24 hours, Stella was intubated, and within another 24 hours, she was placed on ECMO, where she would spend 13 days fighting for her life.

During that time, the hospital ordered urgent genetic testing to determine the cause of her sudden, rapid heart failure. That’s when we learned she had a PPA2 gene mutation.

Stella was able to come off ECMO, but two days later, she underwent surgery to receive a ventricular assist device (VAD) to support her heart until she could receive a transplant.

Just four days before her fifth birthday, Stella got the call that a donor heart was available, and she received a successful heart transplant.

Since then, she has thrived. She returned home just eight days after her transplant and was back in school less than a month later.

I honor her donor by doing my best to raise Stella and remind her that it is because of an organ donor that she is able to do all the things a typical little girl does. We are eternally grateful.”

—Karrie S.

10/23/2026

Why is this publication such a big milestone for PPA2?

Because this is about so much more than a paper being published!

🔬 More cases recognized: The reported number of individuals with PPA2 has grown from 65 to 93, expanding our understanding of this rare disease.

📋 Clinical management guidance: For a disease with so many unanswered questions, having published guidance helps clinicians better understand how to care for affected individuals.

🧬 Advancing research: Every new piece of knowledge helps build the foundation for future discoveries, improved care, and potential treatments.

🌎 Greater awareness and recognition: Publishing in AHA Circulation: Genomic and Precision Medicine helps bring PPA2 to a wider medical and scientific audience.

❤️ A resource for families: This publication can help families and clinicians find information, recognize the complexity of PPA2, and connect with a growing body of knowledge.

And perhaps most importantly, this represents years of dedication, collaboration, and persistence from clinicians, researchers, and patient families who have worked tirelessly to move PPA2 forward!

Read more here ➡️ https://www.ahajournals.org/doi/10.1161/CIRCGEN.125.005673

10/22/2026

🚨BREAKING NEWS FOR THE PPA2 COMMUNITY!🚨

A new publication on Pyrophosphatase 2 (PPA2) Deficiency: Clinical Management is now available in AHA Circulation: Genomic and Precision Medicine Journal!

This is so much more than a publication. It represents years of hard work, dedication, collaboration, and determination from clinicians, researchers, and patient families who have continued to push for answers in a disease that remains incredibly rare and underrecognized.

This publication brings us one step further in understanding PPA2, caring for those affected, and building a foundation for the future of research and potential treatments.

To every clinician who has cared for these patients, every researcher who has dedicated time and expertise to finding answers, and every patient family who has shared their story and helped move this work forward — thank you! This milestone belongs to all of you.

We still have so much work ahead of us. There is currently no cure for PPA2, but every step forward matters. Every piece of knowledge matters. Every family matters.

Today, we celebrate progress. Tomorrow, we keep pushing for answers, treatments, and a future for everyone affected by PPA2. ❤️

Article is in the process of becoming open access but it can be found here: https://www.ahajournals.org/doi/10.1161/CIRCGEN.125.005673

10/21/2026

When Answers Matter: The importance of postmortem genetic testing.

In a powerful Marie Claire Australia feature, Melissa Carlton and Danielle Green share their experiences of losing two children each and their determination to advocate for greater access to genetic testing and more comprehensive death investigations.

For Melissa Carlton’s family, the impact of the postmortem genetic testing has been profound. Following the deaths of her daughters, Abigail and Molly, postmortem genetic testing for Molly, facilitated through the SUDC Foundation’s complimentary Postmortem Genetic Testing Program, identified a pathogenic variant in the PPA2 gene associated with PPA2 deficiency, a rare inherited metabolic condition. The finding provided insight into a genetic contribution to the deaths of both daughters and highlighted the importance of advanced genetic testing in identifying inherited conditions that may have implications for surviving family members.

At the SUDC Foundation, we are committed to advancing access to postmortem genetic testing, supporting families in their pursuit of answers, and working with medical examiners, coroners, and research partners to strengthen death investigations.

We thank Melissa and Danielle for sharing their deeply personal experiences and for their continued advocacy. Their voices are helping bring attention to an issue that deserves greater recognition and action.

Read the article: https://www.marieclaire.com.au/news/advocacy/sudc/

To learn more about the SUDC Foundation's complimentary Postmortem Genetic Testing Program: https://sudc.org/post-mortem-genetic-testing/

10/21/2026

Read the full article here ➡️ https://www.mamamia.com.au/danielle-green-melissa-carlton/

"It's Christmas morning, it just felt like a sick joke." https://bit.ly/4ixoqze