Episode 56: Jenny Jones - Familial Adenomatous Polyposis

MaryAnn opens up with honesty about her daily life with Complex Regional Pain Syndrome (CRPS) and Gastroparesis. She shares how a fall in the bathroom spiralled into a life-altering condition that left her unable to walk, in relentless pain, and dismissed by multiple healthcare professionals. Despite visible healing on scans, she was battling invisible agony.We discuss the different ways MaryAnn manages her condition, with music therapy, strict routines, soft textures, and self-advocacy. We also talk about how she found a lifeline in ketamine therapy, a controversial yet transformative treatment that helped her regain mobility and her mental stability.As a founder of several clinical research companies, MaryAnn also reflects on how living with a chronic illness has changed her perspective as a clinical professional, strengthening her belief in patient-centered care.The song MaryAnn chose is I am woman by Emmy Meli.

This is the deeply moving story of Duncan and his son Torin, who battled Pearson Syndrome, a rare mitochondrial disease. With raw honesty, Duncan shares the journey of loving, raising, and ultimately saying goodbye to his son, revealing not only the heartbreak but also the enduring love and strength that shapes his family's life today. We talk about how they navigated an unpredictable and devastating diagnosis, and how it led the family to cherish every moment.Now, in his son’s memory, Duncan is building a wooden sailing boat, fulfilling Torin’s dream of sailing to Wildcat Island on Lake Windermere, as inspired by his favourite book, Swallows and Amazons. This act of love and craftsmanship stands as a testament to a boy who made the most of his short life.The song that Duncan chose is Hedwig’s Theme by John Williams.

Dwayne shares his journey of living with Pompe disease, a rare genetic condition also known as acid-maltase disease or glycogen storage disease type II. He opens up about how the condition changed his mindset, and his new mantra: enjoy life to the fullest. It drives his story, as he recounts navigating his diagnosis, participating in a clinical trial, and advocating for awareness. He emphasizes how finding a supportive community and maintaining positivity shaped his relationship with Pompe. This discussion is filled with resilience, humour, and an unwavering commitment to life despite challenges.The song that Dwayne chose is Live It Well by Switchfoot.

Kelly is the mother of Austin, a teenager with PTEN-Hamartoma Tumor Syndrome. She shares her profound journey of navigating life as a parent of a child with a rare disease, battling the healthcare system, and finding joy in small, everyday moments. Kelly’s story highlights both the struggles and triumphs of caregiving, offering insights into navigating the medical system, managing mental health, and finding a new normal. Through resilience, advocacy, and self-discovery, she has turned her challenges into a mission to support others in the PTEN community.The song that Kelly chose is Stronger by Kelly Clarkson.

Jan was diagnosed with celiac disease at just three years old. She shares her experiences, from childhood challenges to her current work in France, where she runs a gluten-free teaching kitchen. Through the conversation, Jan illustrates how celiac disease is not a limitation but an opportunity to embrace a mindful, health-oriented lifestyle. She offers practical advice, like focusing on whole foods and learning to cook from scratch, while also advocating for better awareness in restaurants and among healthcare professionals. Her positivity shines through her words, offering encouragement to anyone navigating similar journeys.The song that Jan selected is Where I belong by Kurt Harris.

Jenny recounts a deeply personal story of struggles, courage and self-discovery, as she looks back on her battle with Familial Adenomatous Polyposis (FAP). A traumatic surgery experience had an extremely negative impact on Jenny's mental health, leading to a childhood marked by medical PTSD and deep depression. Through heartfelt dialogue, Jenny shares her journey of diagnosis, advocacy, and acceptance. She has transformed her struggles into a mission to improve lives through awareness and research.The song that Jenny selected is Sound of Madness by Shinedown.

Laura shares her experience as the mother of Alden, a child living with polymicrogyria, a rare brain malformation. With striking honesty, she speaks to the challenges, unexpected joys, and the lessons she's learned about resilience and acceptance. Laura’s narrative illustrates the struggles of parenting a medically complex child, from grappling with sleep deprivation to fighting for appropriate resources in the school system. Yet, through it all, her unwavering love for Alden and her fierce advocacy for his dignity and well-being shine through. The song Laura chose is What a Wonderful World by Louis Armstrong.

Ollier's disease has shaped Joanne's life since infancy. Her story is one of resilience, adaptation, and hope, as she recounts the challenges of undergoing numerous surgeries, navigating family dynamics, and finding ways to thrive despite her condition. Our conversation dives into Joanne's work as the founder of RAREsies, her mission to support those with rare diseases, and her advocacy for education and awareness. Through her words, Joanne radiates a spirit of determination and a belief in the power of human connection. As she shares her struggles and triumphs, she offers profound insights into living with a rare disease and how one can turn adversity into strength.The song that Joanne chose is Love Shack by the B-52's.

Jocelyn shares about living with Morquio Syndrome, a rare skeletal disorder. Her journey started in Hong Kong, where she spent part of her childhood, before moving to the US. Jocelyn reflects on the different approach to medicine between both countries, which partly led her to become a writer and patient advocate. She shares her struggles and triumphs, shedding light on a condition many may not understand. Her candid discussion highlights her resilience, the value of medical advancements, and her hope to inspire others.The song that Jocelyn chose is Silence is Golden by Leslie Cheung.

Chris shares the profound journey of raising his son, Sebastian, who has Batten disease CLN8. He reflects on the bittersweet experiences of witnessing Sebastian’s once-vibrant abilities erode under the weight of this rare, degenerative condition. Chris shares his constant search for new therapies that can help reduce the frequency of his son's seizures. We also talk about his fund-raising for clinical research and the lack of appetite from pharmaceutical companies to treat his son's rare condition. The song that Chris chose is Tiny Dancer by Elton John.