Jennifer’s mother, a journalist writing about life in their small Midwestern town, embarks on a quest with her daughter, diagnosed with Rubinstein-Taybi syndrome, that takes them from doctor to doctor, hospital to hospital, and state to state. It’s filled with surgeries, therapies, and educational interventions– mitigated by Jennifer’s love of music and her fun, curious… More Every Least Sparrow
Book Categories: Genetic Conditions
Fragile X Fragile Hope: Finding Joy In Parenting A Child With Special Needs
Wiritten by a mom whose son has Autism and Fragile X, this story chronicles her own journey through grief and depression, to acceptance and joy. She includes many helpful tips on toilet training, discipline, and encouraging child to eat well.
Fragile X Fred
Look around you. Every person you meet has been molded by an intertwining of genetic information and personal experience. Fragile X syndrome is a genetic disorder that is not widely understood. This book aims to help people of all ages understand that although individuals with fragile X syndrome do have certain challenges, these challenges do… More Fragile X Fred
Fragile X- A-Z A Guide for Families by Families
This guide is intended to help families cope with the daily challenges of living with a child who has a disability, specifically Fragile X Syndrome. Many of the topics discussed may pertain to parents with children affected by other disabilities and with typically developing children. Most of the anecdotes were posted to the Fragile X… More Fragile X- A-Z A Guide for Families by Families
Growing Up With OI – A Guide for Families and Caregivers
Each chapter has a specific focus, written by a different expert in the field. After an overview of OI, covers topics such as first aid, making treatment decisions, preparing for surgery, personal care, exercise, education, relationships.
Handbook of Neurodevelopmental and Genetic Disorders in Children – 2nd Edition
This book addresses a broad range of biologically based disorders that affect children’s learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning… More Handbook of Neurodevelopmental and Genetic Disorders in Children – 2nd Edition
Hope And Destiny: The Patient And Parent’s Guide To Sickle Cell Disease And Sickle Cell Trait
Provides clear-cut and in-depth information on living with the illness. It offers the latest information on preventing complications, research, and treatment. The knowledge patients and family members need is organized in an easy-to-read format that promotes overall healthy living..
In The Company of Angels – A Compilation of Stories and Poems on Angleman Syndrome, By Those Who Know It Best
Pam shares her story, and the stories of other parents, of raising a child with Angelman Syndrome. Focuses on the happiness and joys despite the challenges.
It’s A Small World After All – Stories by Those Affected by Turner Syndrome
A collection of many inspirational life stories from girls, women, and their families, affected by Turner Syndrome.
Jason’s First Day!
Jason, who has Osteogenesis Imperfecta , goes to school for his first day. Jason’s story provides basic information about OI. The story places the emphasis on his abilities and ways he is similar to his new friends at school, rather than a focus on his disability.
Joe Learns About Fabry Disease
Joe’s story was developed to help explain Fabry disease and its treatment from the perspective of a ten year old. This story allows children to join Joe on his journey through diagnosis and treatment of his disease. For ages 4-10.
Keeping Katherine: A Mother’s Journey To Acceptance
Susan Zimmermann tells the story of her life with her daughter Katherine, who has Rett Syndrome, a neurological disorder. Writing with honesty and candor, Zimmermann chronicles her personal journey to accept the changed dynamic of her family; the strain of caring for a special needs child and the pressure it placed on her marriage, career,… More Keeping Katherine: A Mother’s Journey To Acceptance
Living Well With Mitochondrial Disease – A Handbook for Patients, Parents and Families
This book helps make sense of mitochondrial disease (Mito), an overwhelming and complex group of diagnoses that has grown exponentially in recent years. This guide is the first book about Mito written for patients and their families and helps readers understand how the mitochondria work (they are the powerhouse of the cell, providing energy for… More Living Well With Mitochondrial Disease – A Handbook for Patients, Parents and Families
Michael And Marie: Children With Prader-Willi Syndrome
A story of two children with Prader-Willi Syndrome (Michael, 10, and Marie, 6) moving through the school day. While talking about physical and occupational therapy, eating and social issues, the story highlights that they are like their classmates.
Missing Genetic Pieces: Strategies For Living With VCFS: The Chromosome 22q11 Deletion
Sherry Baker-Gomez is the parent of a child with VCFS. Her son, now 25, was finally diagnosed with VCFS at 18 years of age after a long medical history and searching for answers. Sherry, herself, had been so desperate for answers after many years of struggling with her son’s undiagnosed disorder; that she became a… More Missing Genetic Pieces: Strategies For Living With VCFS: The Chromosome 22q11 Deletion
My Brother, MPS and Me
Sometimes the best way to learn about a tough topic is to talk to your brother or sister. Join Greg as he tells us about the genetic condition Mucopolysaccharidosis or MPS and its impact in his brother. For children ages 7-12
My Life Beyond Neurofibromatosis: A Mayo Clinic Patient Story
Leo, a boy with neurofibromatosis, is visiting New York with his family after some treatment. But everywhere they go, mysterious things keep happening. The T-Rex at the American Museum of Natural History comes to life. The ice rink in Central Park transforms into mountains of ice. Then something is making people sick all over the… More My Life Beyond Neurofibromatosis: A Mayo Clinic Patient Story
Neurogenetic Syndromes: Behavioral Issues and Their Treatment
An essential pediatrics textbook and professional reference, this cutting-edge volume sheds new light on neurogenetic syndromes using a promising clinical perspective: examining behavioral and psychological phenotypes, with a strong focus on the influence of genetics.Clinicians who work with children of all ages will fully explore: behavioral phenotypes of established syndromes, such as Down syndrome, Smith… More Neurogenetic Syndromes: Behavioral Issues and Their Treatment
Our Altered Life. A Mother’s Heartbreak and the Boys Who Saved Her
After a healthy twin pregnancy, Charlene and Mark were shocked to be told that one of their boys had been born with half of his face undeveloped. In seconds, the happy family future they had been planning disintegrated into turmoil and uncertainty. Laugh out loud funny in places, heart-wrenching sad in others, and refreshingly honest… More Our Altered Life. A Mother’s Heartbreak and the Boys Who Saved Her
Parenting a Child with Life-Limiting Illness (DVD)
This film was produced by National Tay-Sachs & Allied Diseases Association (NTSAD) to lessen the feelings of isolation that newly diagnosed families experience and to give them genuine hope that they will survive. The parents featured are coping with the devastating diagnosis of infantile Tay-Sachs, juvenile Tay-Sachs and GM-1, but the issues they discuss are… More Parenting a Child with Life-Limiting Illness (DVD)