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Nobody knows exactly why we are born the way we are, sometimes its a case of genetic inheritance, sometimes its cause an accident can happen during our development, and sometimes things just happen the way they do. Four years ago Kathleen Simonetti gave birth to her son Noah but, to everyones surprises he was diagnosed with PPA2 a genetic condition so rare there are only 100 written cases worldwide. On this episode join us for an important conversation about the value of genetic testing, the online community and true maters of the heart. New episodes of the Sit Down Stand out Show drop ever Wednesday 7am EST wherever you get your podcasts. Be sure to leave us a 5 star review on our website www.rollingdragonmedia.com until next time Keep Calm and Roll On #rareconditions #PPA2#genetictesting #sitdownstandoutshow
Until next time Keep Calm and Roll on.
Mom, co-founder non profit
Mother to a four year old living with a rare mitochondrial disease called ppa2 deficiency. He was diagnosed after experiencing four cardiac arrests. There are less than 100 cases worldwide as per current literature. There is no treatment or cure. We connected with several family and together formed Heart of PPA2 to advocate, raise awareness, educate and fundraise for research.