Rare Connection
Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders.
Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act.
Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood.
In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers.
I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families.
Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights.
Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms.
If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.
Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone.
Rare Connection
Partial Trisomy 8Q Duplication Syndrome Wuth Saida From California
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In this powerful episode of Rare Connection, Joanna Ball speaks with Saida Mahoney — a beauty queen, author of nine books, athlete, performing artist, and National Rare Disease and Disability Advocate living with Partial Trisomy 8q Duplication Syndrome, an ultra-rare genetic condition.
Saida shares her journey growing up with neurological challenges and multiple types of epilepsy, including focal, grand mal, idiopathic, and absence seizures. Her story is one of resilience, faith, and advocacy — showing the world that rare disease and disability don’t define a person’s worth or strength.
💜 Topics Discussed:
- Living with Partial Trisomy 8q Duplication Syndrome
- Navigating life with epilepsy and neurological symptoms
- The importance of epilepsy awareness in the rare disease and IDD communities
- Finding identity and purpose through advocacy
- Using creativity, education, and pageantry to empower others
📚 Saida Mahoney’s eBooks on Wattpad
Explore Saida’s inspiring writing and advocacy through her online books:
- Overcoming the Challenges: The Journey of Becoming Strongerhttps://www.wattpad.com/story/394759652-overcoming-the-challenges-the-journey-of-becoming?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Blue and Gold Warrior Who Became Stronger and Wiser\https://www.wattpad.com/story/296241094-the-blue-and-gold-warrior-who-became-stronger-and?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Golden Super Hero Who Fought The Battlehttps://www.wattpad.com/story/328033386-the-gold-superhero-who-fought-the-battles-won?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Girl With Yhe Golden Braveheart Hearthttps://www.wattpad.com/story/323430217-the-girl-with-the-golden-braveheartutm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Golden Brave Champion: Overcoming the https://www.wattpad.com/story/301998758-the-golden-brave-champion-overcoming-the?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Superhero With The Blue Hearthttps://www.wattpad.com/story/307735090-the-superhero-with-the-blue-heart?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Super Hero Dreamed And https://www.wattpad.com/story/277474638-the-super-hero-who-dreamed-and-persevere?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Blue And Read Angel: Battle Onhttps://www.wattpad.com/story/304782879-the-blue-and-red-angel-battle-on?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
- The Glden Angel Who Survived The Battleshttps://www.wattpad.com/story/293938115-the-golden-angel-who-survived-thebattlesutm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaSurviving: Made The Battle To Becoming https://www.wattpad.com/story/259234397-surviving-made-to-battle-and-becoming-resilient?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=c