Episode 48: Daniel DeFabio - Menkes Disease

Andrea shares her journey with Polyglandular Autoimmune Syndrome (PAS) and its complex challenges. Her story spans a life shaped by resilience and a relentless pursuit of better health outcomes, offering invaluable insights into living with rare, chronic conditions. Andrea speaks candidly about her experience, including her battles with diabetes, adrenal complications, and the transformative impact of receiving islet cell transplants. Her optimism and strength shine as she recounts triumphs over immense challenges.  The song that Andrea chose is Higher Ground by Stevie Wonder.

Jen shares her journey with pulmonary arterial hypertension (PAH), a condition marked by high blood pressure in the lungs, which severely affects her daily life. She recounts her initial symptoms, eventual diagnosis, and the physical and mental challenges that followed. As a former hospice nurse and caregiver, Jen reflects on her transition to patient, detailing the emotional impact of her increasing dependence on others. She is now an advocate for those with PAH and rare diseases, working to raise awareness and connect people to clinical trials and support networks.The song that Jen selected is The Climb by Miley Cyrus.

Kerri lives with Myasthenia Gravis (MG), a rare autoimmune condition that has turned her life upside down. Through profound reflections, she shares the multifaceted impact of MG on her life, touching on themes of resilience, loss, and gratitude. Kerri describes the strength required to live with an “invisible disability” and the journey to reframe her life around moments of beauty and simplicity. This discussion with Kerri feels like a journey in itself, filled with wisdom and warmth.The song that Kerri chose is Both Sides Now by Joni Mitchell. 

In this heartfelt episode, Daniel opens up about his journey with his son, Lucas, who was diagnosed with Menkes disease, a rare genetic disorder. Daniel shares the emotional challenges, personal growth, and love that shaped his family's experience. He discusses the need to adjust expectations as a parent, from the small things like waiting nine years for Lucas to grab his finger, to facing the reality that Lucas' life would be short. The podcast touches on the emotional rollercoaster of caring for a child with a life-limiting illness, but also celebrates the joy Lucas brought to their lives. Daniel’s reflections are filled with warmth, sorrow, and lessons learned from his son’s light.The song that Daniel chose is Starlight by Muse.

Erin opens up about discovering Huntington's disease in her family when she was in her early 30s. She talks about her father and how his outbursts and behavioral changes, often misunderstood, were early signs of the disease. Erin reflects on her own diagnosis, the emotional burden of being gene-positive, and the delicate task of caregiving while also being a mother. We also talk about Erin’s passion for writing and storytelling, particularly her books, which focus on HD, rare diseases, and patient advocacy. She emphasizes the power of storytelling in the HD community, giving a voice to patients, caregivers, and families. The song that Erin selected is Yer Fall by Hey Rosetta.

Mike discusses his lifelong battle with eczema and recent struggles with suspected topical steroid withdrawal (TSW). After being prescribed steroid creams in 2021, Mike found that using it months apart worsened his flare-ups. Eventually, he stopped using the creams, which led to severe symptoms affecting his entire body. Mike shares the physical and emotional challenges of living with eczema, and the importance of self-advocacy and alternative approaches to treatment. Through his voice, he hopes others will consider ways of managing eczema before moving on to treatments such as steroid creams. The song that Mike selected is Everybody breaks by Ivan and Alyosha.

In this emotional episode of the podcast, Sierra speaks about her journey as a mother to Jack, who was diagnosed with the ultra-rare Warsaw Breakage Syndrome. She opens up about the complexities of Jack’s medical challenges, including a congenital heart defect, microcephaly, and severe growth restriction, all of which were discovered early in her pregnancy. Sierra emphasizes the importance of trusting her instincts and being Jack’s fiercest advocate in a healthcare system that often left her feeling overwhelmed. She turned her experience into action by creating Librarey, sharing what she learned to help parents in similar situations. Sierra chose the song Make You Feel My Love by Bob Dylan.

Jamie shares her experience living with Hashimoto's disease, an autoimmune condition affecting the thyroid. She talks about how her symptoms, such as fatigue and joint pain, were often dismissed as normal, leading to a delayed diagnosis. We talk about how difficult it was for her to find a treatment for her narcolepsy, due to the lack of diversity in clinical trials. Jamie also shares how medication shortages are affecting her and others, and how dire the situation is in the US. Jamie is an advocate for more education about chronic illnesses, particularly in recognizing symptoms in children, and she highlights her work in increasing the understanding of autoimmune diseases. The song that Jamie chose is Fight Song by Rachel Platten.

John lives with inclusion body myositis (IBM), a rare muscle-wasting disease. He shares how his symptoms, such as difficulty climbing stairs and playing guitar, were initially mistaken for aging, and later led to a misdiagnosis of ALS. He describes the emotional impact of living with a rare disease, the challenges of receiving an accurate diagnosis, and the frustration of the limited treatment options available for IBM. Despite these challenges, John remains committed to raising awareness and advocating for research to improve the lives of those affected by IBM and other rare diseases.The song that John selected is Into the mystic by Van Morrison. 

Both Ray's children were born with FSHD (Facioscapulohumeral Muscular Dystrophy), a common yet lesser-known form of muscular dystrophy. He discusses the challenges they face daily, such as muscle weakness and limited mobility. Ray highlights the importance of the patient voice in understanding and treating rare diseases, drawing from his professional experience in the rare disease sector and his role as a father. He also touches on the role of community support and the ongoing need for research to better understand and combat FSHD and other rare diseases.The song that Ray chose is SPACES, a song written by the Spinal Muscular Atrophy community and sung by James Ian.