Three hundred and ten: The number of days we had prior to our lives forever changing.

On April 13, 2022, it was a day like any other. My husband and I had gone to work after dropping our ten-month-old son, Noah, off at daycare. Afterwards, we had our usual nighttime routine of dinner, bath, and bedtime story before saying goodnight and putting him to sleep in his crib. In the early morning hours of April 14, I heard strange gargling noises over the monitor and rushed into his bedroom to find him blue and limp in my arms when I picked him up. I immediately placed him on the floor and began CPR, yelling for my husband to call 911. Upon arrival of the police and emergency medical technicians, they continued CPR and shocked him twice with the defibrillator. Once stabilized, he was transferred to the hospital. He recovered well, but the doctors were baffled as to what had caused cardiac arrest in an otherwise healthy child. We were transferred to a second hospital where they surgically placed an implantable cardioverter defibrillator (ICD) and performed cardiac-specific genetic testing; however, the results were inconclusive and did not provide any answers. It was determined that he likely had suffered from myocarditis as a result of a virus, and we were eventually discharged.

Two hundred and fifty-nine: The number of days between our first life-changing event and our second, third, and fourth.

After Noah’s first arrest, life continued as normal as possible, albeit more cautiously. He returned to school, celebrated his first birthday, and even went on an airplane for the first time for vacation—twice! The holidays came around, and we were able to celebrate with family. On December 29, 2022, Noah had started with a cold and respiratory symptoms. Following dinner, he was more tired than usual and we started to notice sternal retractions, so we brought him to a local urgent care facility. There, they assessed him and, while his oxygen saturation was within normal range, his retractions did not slow despite the administration of steroids. The doctor informed us we would have to be transferred to the hospital via ambulance, which we thought was a little over the top at the time. Noah was transported without issues, but once at the hospital, he went downhill quickly. He went into respiratory distress and, while trying to intubate, he had a cardiac arrest. Over the course of the next few hours, he experienced an additional two arrests and we were told to call our families because they did not think he was going to make it. Noah’s heart was not functioning within normal range, and he remained intubated for a week. Things slowly began to look up from there, as he grew stronger and recovered from pneumonia. He had to relearn how to sit, eat, walk, and talk, and within twenty-five days, his heart was functioning close to normal again and we were allowed to go home. This sequence of events frightened us even more and confirmed that his first cardiac arrest was no longer just a chance occurrence. We needed answers and requested that whole exome sequencing be performed.

One hundred and eighty-two: The number of days from the second set of arrests to diagnosis.

When we requested additional genetic testing, we were warned that we might receive results we were not anticipating. We knew this going in, but we needed answers. On June 29, 2023, at 4:46 p.m., I received an email from the genetic testing company with the results. “Pathogenic Mutation.” “Autosomal Recessive.” “Sudden Cardiac Failure.” The words flew off the page and I couldn’t catch my breath. What did this all mean? As it was late in the day, we were unable to get in touch with our medical team to discuss the results, so we resorted to an internet search. Resources were limited but cited that there were around sixty known reported cases worldwide at the time, with only six individuals still alive. Six. This definitely was not the news we were expecting. The next day, we simultaneously received calls from multiple of our doctors who all connected with each other upon reviewing the results. They were relieved to have an official diagnosis: PPA2 Deficiency; however, they all admitted to never having heard of it before.

PPA2 deficiency is a rare genetic disease that occurs when there is a mutation in the enzyme inorganic pyrophosphatase 2, or PPA2. PPA2 is involved in the production of energy within the mitochondria, which is crucial for heart health. Deficiencies in PPA2 can result in a range of symptoms, most notably sudden cardiac death, as a result of known triggers including viral illnesses or consumption of alcohol.

Six hundred and ninety-four: The number of days that have passed since diagnosis.

At the time, receiving a diagnosis that both we as well as our doctors had never heard of, and of which there was minimal information on the internet, was terrifying. We had to learn as much as we could ourselves and find others to add to our medical team to support us. In our research, we came across a Facebook group with approximately twenty members consisting of families affected by PPA2. Today, this group has over seventy members. Together we share the good and the bad; whether it’s our latest medical treatment plans or news of one of our loved ones passing. Having a rare disease diagnosis is isolating, but having the support of a community that understands what you are going through means everything.

Unknown: The number of days we have left with our PPA2-affected son.

To date, there is no treatment or cure for those with PPA2 deficiency. As a parent, this is a tough reality to accept. Since becoming a member of the PPA2 group on Facebook, we have lost several children to cardiac arrests as a result of viral infections. Even though we only know each other through a computer screen, it broke our hearts just the same to lose them—however, it also further ignited our passion for advocacy. In an effort to raise awareness surrounding PPA2 deficiency and in hopes of sparking interest in research for treatment or therapies, several families came together and created an advocacy group—Heart of PPA2. Our mission is to bring together families affected by this rare condition, foster collaboration among researchers to drive groundbreaking research, educate, and advocate for the importance of earlier diagnosis in an effort to improve long-term outcomes.

We recognize that our days may be numbered, not just in the bad ways but also hopefully the good ones. We know that loss and struggles are part of this journey. But despite that—we hold on. We keep going. We fight for meaning, for love, for awareness. We fight for more days.  

 

 

Author Bio: My name is Kathleen Simonetti, and I’m a mother of two and co-founder of a patient advocacy group called ‘Heart of PPA2’. My four-year-old son, Noah, was diagnosed with a rare mitochondrial disease called PPA2 Deficiency just after his second birthday. With there being limited information regarding PPA2, we’ve made it our mission to share our story in an effort to spread awareness, connect families and advocate for research. When we aren’t busy advocating, Noah and I love to bake, hike and read books together. You can follow us on Instagram @get_to_noah_me and @heartofppa2, and on Facebook @Heart of PPA2.