‘…If sick, please stay home or be considerate, trying not to infect others.’

Kathleen Addiss Simonetti, Medford

“Our story isn’t just one of things that have happened to us as in past tense. It’s a story of things still happening to us on a daily basis. While our son Noah at 2½ looks and acts like a normal kid, he’ll never be a normal kid. He knows he’s different but doesn’t yet understand why.

“At 10 months old, Noah had a cardiac arrest while sleeping at 4 a.m. My husband and I performed CPR and saved him. He had surgery and an ICD [implantable cardioverter-defibrillator] was placed. He was frequently sick after that, more than other kids his age, and always got hit harder. He’d get a cold and be sick for weeks or have to go to urgent care. It was like a weekly thing. When he was 18 months old, we took him to the hospital; he had pneumonia and coded three times. We were in the PICU [pediatric intensive care unit] for 25 days, and he had to relearn how to eat, sit, walk again. We still had no answers as to why. In June, just before his second birthday, we received genetic results that Noah has a rare condition called PPA2, which can cause sudden cardiac failure. There are only about 60 cases worldwide. Very few cases have been identified worldwide, and even fewer people are living with the condition. It’s very poorly published, and it took us 18 months to get an official diagnosis.

Noah is the sweetest, strongest, most intuitive boy, and we’re so grateful to have him, no matter his condition.

“I’ve connected with other families. A lot of them have previously lost a child and now have a second child and finally got a diagnosis. It’s not something that’s easy to grasp, having a child that’s going to deal with this for the rest of their lives. It’s kind of just taking it one day at a time. We want to get the word out regarding PPA2, this rare mitochondrial disease, in hopes that it will spark interest in research. We think it should be considered in general genetic testing panels, not just after individuals experience events. This could potentially help better the outcome for individuals with this disease as they’ll know the diagnosis from birth. We’re also hoping others will be more considerate of those with suppressed immune systems, because even though Noah looks normal, a ‘minor’ cold could mean heart failure or death for him. So, if sick, please stay home or be considerate, trying not to infect others. Noah is the sweetest, strongest, most intuitive boy, and we’re so grateful to have him, no matter his condition.”

Interviewed by Liza Burby