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Jan. 26, 2021

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Jana Monaco, Virginia Rare Action Network Volunteer Ambassador

Posted by Sean Roberts

Newborn Screening
From just looking at my son, 22, and daughter, 17, who both have isovaleric academia, the profound impact of newborn screening on my family and our children’s lives is obvious. Their lives parallel one another only with the close management of their disorder by their specialists. Stephen’s late diagnosis at age three and a half due to lack of NBS altered his normal life to one with severe disabilities and complex medical issues. Caroline, on the other hand, was screened early and lives a normal, healthy life fulfilling her dream as an equestrian. Stephen and Caroline represent why newborn screening is so critical for every baby.

Medical Nutrition
My son Stephen and daughter Caroline both have an inborn error of metabolism whose treatment includes a medical formula that restricts a specific amino acid in their diet. While costly, it is imperative that they have access to this specialized treatment. Medical nutrition has enabled them to grow, develop and remain metabolically stable, and it must be covered by insurance.