This guide is for teachers and school nurses working with students who have urea cycle disorders (UCDs). It includes background… More An Educator’s Guide to Urea Cycle Disorders

This guide is for teachers to help support children with PKU at school. Developed in the Divisions of Metabolism and Genetics… More An Educator’s Guide to PKU

MCADD stands for “medium chain acyl-CoA dehydrogenase deficiency”. It is one type of fatty acid oxidation disorder that is inherited… More The Educators Guide to MCADD

This guide is intended to help families cope with the daily challenges of living with a child who has a… More Fragile X- A-Z A Guide for Families by Families

This honest memoir of fierce and faithful parenting takes readers on a heartfelt journey through chronic illness and Asperger’s syndrome… More The Chicken Who Saved Us: The Remarkable Story of Andrew and Frightful

PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Strep) and PANS (Pediatric Acute-Onset Neuropsychiatric Syndrome) occur when an abnormal immune response… More PANDAS and PANS in School Settings: A Handbook for Educators

Look around you. Every person you meet has been molded by an intertwining of genetic information and personal experience. Fragile… More Fragile X Fred

Becoming Mrs. Rogers is the true and heart-felt story of one couple’s journey into acceptance following a devastating genetic diagnosis… More Becoming Mrs. Rogers

This child-friendly guide helps children understand their own and/or their family member’s diagnosis of cardiomyopathy. It addresses information about inherited… More Cardio What? (¿Cardio Què?)

This book is by a girl with Turner syndrome, about this relatively common but little understood genetic disorder and her… More As a Butterfly: Turner Syndrome Survival Guide