Diagnosis: Rare Disease

Denise Crompton’s Diagnosis is compelling look at 13 families who received the diagnosis no parents ever wants to hear. “Diagnosis: Rare Disease” provides a heartbreaking exposé of what life is like for families that have a member with a rare disease. Crompton details the journey of each family, including her own, who has one or more children with a rare disease called Mucolipidosis. The stories 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 book highlights how stoic, resilient, strong and resourceful these families are,” explains Carolyn Paisley-Dew, ISMRD Board Member, Australia. “It underlines the importance of networks to allow these isolated families to support each other and to give them a sense of belonging. Denise Crompton presents these stories in a style that is compassionate and easy to read.”

“Diagnosis” is a must-read for medical professionals who wish to learn how to work with families in these difficult situations. Families dealing with a rare disease will recognize themselves in this book that is destined to be a classic in its field.