A Rare Disorder Caused This 4-Year-Old’s Cardiac Arrests | NewsdayTV

追加: 2026-06-03

[00:00:00]Noah was diagnosed right after his second birthday with PPA2 deficiency and that was after suffering from four cardiac arrests after his first arrest at 10 months old. They thought it was just due to a virus. He had surgery where they placed an ICD to protect his heart and then we kind of just went about life the same way. And then again at 18 months old he had another three cardiac arrest. So after that we pushed for more answers and they did do whole exom sequencing which is where they analyze all the cells in the body and all the genes and they came back with the diagnosis of PPA2. At the time there were only about 65 recorded cases in literature. None of our doctors had ever heard of PPA2. We certainly had never heard of it. Not all rare diseases look the same. On the outside, Noah looks like a normal boy. But two of the known triggers for PPA2 are viral illnesses and products that contain alcohol. There is currently no treatment or cure. Most people that are diagnosed with PPA2 receive an implantable cardioverter defibrillator. Um but that doesn't necessarily protect the heart completely.