After a healthy twin pregnancy, Charlene and Mark were shocked to be told that one of their boys had been… More Our Altered Life. A Mother’s Heartbreak and the Boys Who Saved Her

“It’s just a virus.” “Oh, they will grow out of it.” “Your child is doing this for attention.” These are… More Rare but Not Alone: Raising Kids with Cyclic Vomiting Syndrome

Jennifer’s mother, a journalist writing about life in their small Midwestern town, embarks on a quest with her daughter, diagnosed… More Every Least Sparrow

This book follows the journey of 13 families who have one or more children with a rare disease called Mucolipidosis,… More Diagnosis: Rare Disease

This charming book is the perfect way to teach children (and adults!) about rare chromosome abnormalities and what makes the… More Chromosome Kids Like Me

A colorful, cheerful children’s book about a boy named Carlos, a bilingual, happy child that has a rare, painful skin… More Carlos

Individuals with Angelman Syndrome (AS) present many unique challenges to professionals, parents and others who are committed to maximizing individuals’… More Angelman Syndrome: Communication, Educational, and Related Considerations

The every day moments captured in An Ordinary Day inspire awareness and empathy, while highlighting the commonalities between families with… More An Ordinary Day: Kids with Rare Genetic Conditions

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