<p>Kathleen Simonetti&#39;s son Noah, now 4,&nbsp;was diagnosed with a rare gene mutation, PPA2 deficiency.&nbsp;Simonetti hopes to spread awareness of the condition.&nbsp;</p>


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LI mom spreads awareness for son's rare disease

Stony Brook

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'Not all rare diseases look the same'

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Kathleen Simonetti's son Noah, now 4, was diagnosed with a rare gene mutation, PPA2 deficiency. Simonetti hopes to spread awareness of the condition.

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A genetic panel showed the boy, now 4, had a mutation in the PPA2 gene, which is required for energy production in the body.

PPA2 deficiency caused cardiac arrest in 10-month-old boy. His mom is now an advocate for those with the condition.

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