<p>Kathleen Simonetti&#39;s&nbsp;4-year-old son, Noah, was diagnosed with a rare mutation classified as PPA2 Deficiency. Simonetti hopes to spread awareness of the condition.&nbsp;</p>


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LI mom spreads awareness for son's rare deficiency

Stony Brook

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Kathleen Simonetti of Stony Brook's, 4-year-old son was diagnosed with a rare mutation classified as PPA2 Deficiency. Simonetti hopes to spread awareness for the condition.

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A genetic panel showed Noah, now 4, had a mutation in the PPA2 gene, which controls the amount of energy, or mitochondria, made in the body.

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