We are the Heart of PPA2

By Kathleen Simonetti

It all begin in April of 2022. Our son Noah was 10 months old at the time, and after a seemingly normal day we put him to bed for the night. Little did we know that when we woke up, our lives would be forever changed.

In the early morning hours, Noah experienced a cardiac arrest in his sleep. Due to quick acting resuscitation and response by emergency personnel, his life was spared. Doctors were bewildered as to what could have caused an otherwise healthy ten month old to have a cardiac arrest. Noah had an implantable cardioverter defibrillator (ICD) surgically placed, and after genetic testing results came back inconclusive we were sent on our way.

Months went by as we worked to regain a sense of normalcy, only for our lives to shift again right after the holidays. In December 2022 following a bout of pneumonia, Noah went into respiratory distress where he then had an additional three cardiac arrests. The doctors did not think he was going to make it, and we were told to call our families. He slowly stabilized, and again defeated the odds against him by recovering fully after twenty-five days in the intensive care unit. Determined for answers, we asked for full exome sequencing to be performed.

After an agonizing few months wait, we finally received a diagnosis in June 2023 – “PPA2 Mutation – Sudden Cardiac Failure”. Upon frantically searching the internet, we found that it was not only rare, but that the outcome was bleak. PPA2 Deficiency is an autosomal recessive mitochondrial disease that affects the energy production in the body. Viral illnesses or consumption of alcohol are considered triggers that can then lead to cardiac arrest in affected individuals. At the time of diagnosis, literature reported that there were 65 known cases with only 10 living individuals worldwide. There is no treatment or cure currently available for PPA2.

In an effort to find more information, we came across a Facebook group for PPA2 that consisted of approximately 20 members from all around the world whom had family members affected. Together we would share medical information, and more importantly support. With time, our membership slowly grew – today our group has close to 80 members, with 20 being individuals affected by PPA2 that are still alive.

While sharing of medical histories and stories was comforting in the sense that we now had others that truly understood what it was like to walk in our shoes – it wasn’t enough. We knew we needed to do more to raise awareness and fight for a future for our children, but we didn’t know how. It wasn’t until the heartbreaking loss of two of our precious PPA2-affected children that we finally pushed forward. What was founded in the wake of unimaginable grief quickly turned into a shared mission: to ensure that no other family endures the same pain. Out of this devastation, Heart of PPA2 was born—driven by love, bound by loss, and powered by the unwavering commitment to protect our families.

Heart of PPA2 consists of members from all around the world, from Europe to North America to Australia and beyond. We are oceans apart, but united by our shared experiences and hope. We work to share our stories so that others may learn, we advocate for earlier detection and diagnosis, and we fight for research to potentially develop a treatment or a cure. With our efforts, we hope to make diagnosis with PPA2 a story of survival, not sorrow.

WE are the Heart of PPA2—because while there is not yet a cure, love is the strongest medicine we have…and we have a lot of it.