Today on #NationalDNADay, we are spotlighting Jana Monaco, one of this year's NORD #RareImpactAwards Honorees whose family's story is profoundly impacted by DNA. 🧵
Jana's son was diagnosed with #IsovalericAcidemia as a toddler, once symptoms of the rare disorder had begun to impact his ability to thrive. She learned this could have been caught with #NewbornScreening but that her state of #Virginia did not include it in its screening panel.
As a NORD #RareActionNetwork Ambassador, Jana Monaco fought to make sure Virginia screened newborns for as many #RareDiseases as possible. Now, the number of conditions Virginia screens for went from just 8 to 33 and counting! This had personal repercussions for Jana's family...
When Jana had a daughter several years later, she was able to get diagnosed with the same condition in utero and receive therapies that kept her from manifesting symptoms of the disease. Today, she is perfectly healthy, thanks to her mother's advocacy.