July 22, 2024

Diagnosis: Rare Disease

#1 Genetics e-book – available in both paperback and all digital formats


“Destined to be a classic …”

Book on MucolipidosisDenise Crompton’s “Diagnosis: Rare Disease” offers a compelling look at 13 families who received the diagnosis no parents ever wants to hear.  This gripping book 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.

“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.

Within 24 hours of being released in September, 2014, Crompton’s book hit the #1 spot for paid books in the Genetics category of Amazon.

You will absolutely love this book or your money back.

“Diagnosis: Rare Disease” is also available in the Amazon Kindle Store and in all digital ebook formats through Smashwords.  Order this incredible book today for only $15.97 plus s/h.


“Denise Crompton captures the essence of living with a rare disease; the quest for a diagnosis, the fears, frustrations, heartbreaks, navigating the medical establishment, and the loss of loved ones. As one who has children battling a rare disease, I am encouraged by the journeys of the individual families Denise writes about, knowing that I am not alone in my feelings and struggles, and energized by the families’ determination to live their lives to the fullest.” ~ Susan Anganes

“As a retired operating room nurse, I have been amazed at the history of Kelley Crompton. During her lifetime she underwent numerous surgeries in hopes of improving her life style, preserving the same and hoping for a cure. I know how tough it is to enter an operating room the first time but returning again and again can be demoralizing. I can tell you firsthand how those giving such care are frustrated beyond belief. We are there to help and hope for lasting remedies. To see the same patient return numerous times is heart wrenching. My hope is that all health care givers will read this book so that the care the give will be compassionate. Sometimes just being there, truly listening and supporting a patient is all we can do. But we must start!”
~ Jeanne C. Sturrock, retired operating room nurse

“Regarding the topic of Diagnosis: Rare Disease, Denise Crompton amply demonstrates two of her important assets: one is the personal experience with ML III in her own daughter and two, her manifest ability to widen the subject and to bring a streamlined report on a number of other patients and families with either ML II or ML III. The book is [destined] to become a classic in the still little known world of very rare or orphan hereditary disorders.”

JG Leroy MD. PhD
Professor & Chairman Emeritus
Depts.Pediatrics & Med. Genetics
Univ. Hosp. & Univ. Ghent
GHENT, Belgium
Senior Research Scholar
Greenwood (S.C.) Genetic Center