Positively Rare is a groundbreaking collection that goes beyond the medical aspects of rare diseases. It’s a celebration of the human spirit, a testament to the strength, purpose, and love that can flourish even in life’s most challenging moments. As Rob Haselberg, a Huntington’s disease gene carrier and rare disease advocate, aptly puts it,
“This book is not just about rare diseases; it’s about finding purpose, strength, and love in life’s most challenging moments. An inspiring and life-changing read that gives voice to the often unheard.”
At the heart of Positively Rare is a diverse range of voices, each contributing a unique perspective on living with a rare disease. One such voice is Kelly Kearley, the Charity Manager at PTENUKI and a parent to a child with PTEN. Kelly had the honour of writing about her own mental health journey in the context of PTEN, offering readers a deeply personal and heartfelt account of what it was like to hear the news that her son had been diagnosed with this rare condition.
In her chapter, Kelly captures the moment she found out her son had PTEN and reflects on what this would mean for both his life and their family’s future. As she bravely shares, the weight of this diagnosis had a profound effect on her mental health. Yet, through her vulnerability, Kelly’s story serves to comfort others who may feel isolated by their own experiences with PTEN or other rare diseases. She hopes her honesty will help others feel less alone in their diagnostic journeys, offering both solace and strength in the face of uncertainty.
The stories in Positively Rare go beyond just medical experiences; they explore the lives of individuals whose courage and resilience shine through even in the toughest of circumstances. For example, a nurse, suddenly a patient after her own rare disease diagnosis, shares her poignant journey of shifting from the role of caregiver to the one being cared for. Another author, living with sickle cell anaemia, reflects on the painful dilemma of whether to endure the agony of a pain crisis at home or risk the mistreatment of hospital care. A mother, whose child is born with a rare disease, details how her world was reshaped by the experience of parenting with advocacy and love at its core.
Through these impactful stories of triumph in the face of adversity, the authors teach us that we are so much more than our rare disease.
Positively Rare amplifies the voices of those who are too often overlooked, giving them a platform to not only share their stories but to challenge the stigma and misunderstanding that surrounds rare diseases. Many in the rare disease community have faced medical gaslighting and toxic positivity, leaving them feeling isolated, alone, and unheard. Positively Rare works to change that, providing a space where the lived experiences of people with rare conditions are validated and respected.
A Must-Read for All
Positively Rare is an essential read not just for those living with rare diseases, but for anyone who cares about broadening their understanding of these conditions. As Melissa Adams, host of the I Am Not My Pain podcast and chronic pain fighter, says, “Positively Rare is an essential read for anyone seeking to broaden their perspective of living with a rare condition or yearning to feel less alone if struggling with one.”
The book is also an invaluable resource for caregivers, friends, family, and medical professionals. Dr. Tamara Maiuri, a Huntington’s disease researcher, describes it as “a must-read guide for people with rare illnesses and a master class in empathy for caregivers, friends, family, and medical professionals.”
Dr. Cornelia Griggs, a paediatric surgeon at Harvard Medical School, adds, “This book is a testament to the courage of patients and the ongoing search for solutions in an increasingly complex health care landscape.”
Giving Back
Not only is Positively Rare a powerful tool for raising awareness and fostering empathy, but it also contributes to the ongoing fight for better treatment and understanding. 50% of the profits from the sale of this book will be donated to Global Genes, supporting rare disease research and advocacy. By reading this book, you’re not just learning – you’re helping fund essential research for those living with rare diseases.
You can get your copy of the book here.
