A Little More Than Perfect – My Life With (and In Spite of) Osteogenesis Imperfecta

Heather’s inspiring true story of living with a disorder that touches every part of her life. The disease makes her bones incredibly fragile, and the slightest touch can sometimes cause a fracture. This led to numerous trips to the hospital, casts, and surgeries. Yet from an early age, Heather refused to let the disability stop… More A Little More Than Perfect – My Life With (and In Spite of) Osteogenesis Imperfecta

Alphabet Kids: From Add To Zellweger Syndrome: A Guide To Developmental, Neurobiological and Psychological Disorders for Parents and Professionals

Book Cover, Alphabet Kids: From Add To Zellweger Syndrome: A Guide To Developmental, Neurobiological and Psychological Disorders for Parents and Professionals

From ASD (Autism Spectrum Disorder) to ZS (Zellweger Syndrome), there seems to be an alphabet disorder for almost every behavior, from those caused by serious, rare genetic diseases to more common learning disabilities that hinder children’s academic and social progress. Alphabet Kids have disorders that are often concurrent, interconnected or mistaken for one another: for… More Alphabet Kids: From Add To Zellweger Syndrome: A Guide To Developmental, Neurobiological and Psychological Disorders for Parents and Professionals

An Educator’s Guide to PKU

This guide is for teachers to help support children with PKU at school. Developed in the Divisions of Metabolism and Genetics at Boston Children’s Hospital, with input from teachers, students, and parents, the guide includes helpful information about low-Phe nutrition, common learning challenges, guidance for educators, resources to find additional information and support, and more. Click… More An Educator’s Guide to PKU

An Educator’s Guide to Urea Cycle Disorders

This guide is for teachers and school nurses working with students who have urea cycle disorders (UCDs). It includes background information about UCDs, as well as in-school health care strategies, nutrition guidelines, ideas for academic support, and a parent-teacher-school-nurse communication planner. Click here for a printable PDF version of this guide Save

An Ordinary Day: Kids with Rare Genetic Conditions

Book Cover, An Ordinary Day: Kids with Rare Genetic Conditions

The every day moments captured in An Ordinary Day inspire awareness and empathy, while highlighting the commonalities between families with rare genetic conditions, and more deeply between us all. Poignant and revelatory, An Ordinary Day illuminates what it means to be a family.

Angel Lady

Mother and daughter co-authored this book to give a positive family view of Angelmans Syndrome. Light and enjoyable reading for anyone with a family member havng a developmental disability

Angelman Syndrome: Communication, Educational, and Related Considerations

Individuals with Angelman Syndrome (AS) present many unique challenges to professionals, parents and others who are committed to maximizing individuals’ competence while ensuring them the best possible quality of life. This book provides readers with a comprehensive understanding Angelman Syndrome along with an in-depth exploration of communication (with a focus on augmentative and alternative communication),… More Angelman Syndrome: Communication, Educational, and Related Considerations

As a Butterfly: Turner Syndrome Survival Guide

This book is by a girl with Turner syndrome, about this relatively common but little understood genetic disorder and her experiences with it. It contains warnings, advice, and valuable tips for any family affected by Turner syndrome.

Becoming Mrs. Rogers

Book Cover, Becoming Mrs. Rogers

Becoming Mrs. Rogers is the true and heart-felt story of one couple’s journey into acceptance following a devastating genetic diagnosis for both of their sons. Their story, its highs and lows entwined with its wisdom and compassion, has become a beacon of hope for thousands of families struggling with Fragile X and other autism spectrum… More Becoming Mrs. Rogers

Ben’s Big Decision

Ben’s Big Decision describes many of the features and characteristics of a child with Williams Syndrome through the story of a young boy who is trying to decide what he wants to be when he grows up. An excellent book for classroom inclusion. K-3rd grade

Cardio What? (¿Cardio Què?)

This child-friendly guide helps children understand their own and/or their family member’s diagnosis of cardiomyopathy. It addresses information about inherited forms of cardiomyopathy that cardiologists, genetic counselors or other health professionals may have discussed. Booklet contains basic information, great illustrations, and a list of resources. These books are available here for download. Cardio What?  … More Cardio What? (¿Cardio Què?)

Carlos

Book Cover, Carlos

A colorful, cheerful children’s book about a boy named Carlos, a bilingual, happy child that has a rare, painful skin disease called epidermolysis bullosa. The book goes through his day of what it is like to be a four year old boy with a genetic disease, and how other children can play with him without… More Carlos

Chromosome Kids Like Me

This charming book is the perfect way to teach children (and adults!) about rare chromosome abnormalities and what makes the people who have them special. Written by the mother of a child with unique chromosomes and reviewed by a geneticist, this easy-to-understand book will warm your heart and help you understand chromosome disorders. It is… More Chromosome Kids Like Me

Dandy Kids

Families share their life experiences. Many are told pregnancies should be terminated, the prognosis is hopeless. Movie depicts the experts, advocates, and the heroes who by way of faith & perseverance live life to the fullest each day. Available in DVD format.

Diagnosis: Rare Disease

Book Cover, Diagnosis: Rare Disease

This book follows the journey of 13 families who have one or more children with a rare disease called Mucolipidosis, as they wade through the erratic diagnosis process, medical muck-ups, endless pain, a plethora of medical appliances and home modifications, special education, multiple hospitalizations and surgeries, unrelenting stress and the ever-present fear of death. The… More Diagnosis: Rare Disease