Monaco Family (DC LEND Family Faculty) Featured in NORD's 25th Anniversary Video

August 18, 2008

Jana Monaco is a Family Faculty member at the DC LEND & IDDRC, where she helps trainees and Center faculty understand the perspective of being a parent and family member of a child with a disability.  The family has four children, the youngest two of whom have isovaleric academia, a disorder in which the body is unable to metabolize certain proteins properly because of an enzyme deficiency. In about half of the cases, the problem becomes apparent soon after birth and symptoms include vomiting, seizures, and lethargy. In other cases, signs and symptoms don't appear until later.

This disorder is inherited in an autosomal recessive pattern, which means that both parents of the affected child carry an altered gene. However, the parents often are unaware of any potential problem.