I had learned that the many twists and turns on our rare disease path were similar to the families we met

Originally published on May 11, 2022, this article explores celebrates author and advocate Denise Crompton created her influential book, Diagnosis Rare Disease, to support and empower those navigating the challenges of rare disease diagnosis. The book stands as a vital resource, offering guidance and practical advice for patients and families facing uncertainty.

Read Denise’s original article here.

DENISE TODAY – Denise Crompton and her husband, Bob, raised four children, the oldest of whom, Kelley, had the rare disease of Mucolipidosis 3. The many years that they spent caring for Kelley prompted Denise to write two books. Kelley’s Journey: Facing a Rare Disease with Courage chronicles their own daughter’s experiences. Diagnosis: Rare Disease includes some of the experiences of 12 more families, and was written to help raise awareness of all that is involved in living with rare conditions. All of Denise’s royalties go toward rare disease research. The Cromptons live in New Hampshire, where they spend their retirement years enjoying their many grandchildren, while still reaching out to help families with rare diseases. Since this article’s publication, Denise has written over 15 rare disease articles for Patient Worthy and has also published another book titled Imposter Nurse, further expanding her impact within the rare disease community.