Season 4, Episode 5: In Conversation with Dr. George Ackerman.

George shares his story about starting "Together for Sharon," which he and his family initiated to keep his mother, Sharon Riff Ackerman's memory alive and to spread the message of Parkinson's Awareness and hope for a cure.

George shares his journey as a caregiver for his mother and how he used her battle as motivation to create a better future for those affected by Parkinson's Disease. We discuss the ups and downs of Parkinson's, and how as a community, we can be more mindful of preserving dignity and humanity while caring for our loved ones.

George has made it his life mission to pave the way for more legislation, research, and community involvement. It serves as a valuable lesson for us all to be grateful for our health and how we can make a difference despite the circumstances.

Season 4, Episode 4: In conversation with Torian Speranza.

We discuss Torian's journey into advocacy within the rare disease community. From a young age, Torian felt compelled to amplify voices in the rare disease space due to their mother's battle with Hypophosphatasia; a condition that affects the mineralization of bones and teeth.

Despite their youth, Torian has found their place at the advocacy table, tirelessly advocating for awareness and support in this often overlooked area of healthcare.

In our discussion, we delve into the significance of raising our voices, regardless of volume, and how small conversations can ignite meaningful change. Tune in to discover how you can utilize your voice to effect change in every room you enter.

Season 4, Episode 3: In Conversation with Kevin Alexander

Kevin Alexander joins the podcast, a fellow advocate and podcaster in the rare disease space. Kevin is a person living with PKU.

PKU (Phenylketonuria) is a rare genetic disorder that inhibits the body's ability to metabolize the amino acid phenylalanine, requiring strict dietary management to prevent cognitive impairment and other serious health complications.

Our paths crossed at Rare Disease Week in Washington D.C. in 2023. Since then, we've discovered many shared interests. We are both immersed in media and storytelling, and Kevin and I are passionate about amplifying the voices within our community. Despite our common ground, our dietary restrictions set us apart—Kevin manages PKU, limiting his protein intake, while I navigate a condition restricting fat consumption.

Yet, our differences only enrich our conversation as we delve into various topics within the rare disease community. From the significance of advocacy to the power of storytelling, we explore the highs and lows of our respective conditions. Join us as we bridge our unique perspectives and unite in our shared mission.

Season 4, Episode 2: In conversation with Angela Papazoglou.

She is so many things; a loyal friend, a kind human being, and a mom. Her most important role is as Mom to Yiannis, who has a rare disease IRF2PBL. 

The symptoms are related to the broad spectrum of mutations in the IRF2BPL gene. The protein made by this gene is found in many different organs, including the brain. It is unclear how the protein made by this gene works in the body and why changes in the gene result in these disorders. The IRF2BPL may be involved in the regulation of other genes since IRF2BPL contains a special polyglutamine (polyQ) and polyalanine (polyA) tracts, and such peptides are present in various forms of neurodegenerative diseases such as Huntington’s Disease (HD). IRF2BPL mutations resulting in a short non-working protein (nonsense mutations) seem to lead to different symptoms than other types of mutations

Yiannis is much more than his condition. He is funny and happy; radiating every room he is in. 

Season 4, Episode 1: In Conversation with Effie Parks

This episode is baked with equal parts passion, advocacy, love, and open dialogue about the world of Rare Diseases. Effie is the mom to Ford, who has an ultra-rare disease, CTNNB1. Through her journey, she has transformed her pain into drive by creating and fostering a strong and welcoming community through her podcast "Once Upon a Gene."

Together, we reflect on her journey from the day of her beloved son's diagnosis many moons ago to the present day. There is so much to learn from this episode; you can discover how to ask for help to connect with this cherished rare community and everything in between.

You can listen to “Once Upon a Gene” wherever you listen to your podcasts.

Season 3, Episode 9: In Conversation with Sierra Phillips and Albert Wang

Dive into this heartfelt episode as we explore the inspiring narrative of Sierra Phillips and Albert Wang, two remarkable individuals who united to initiate "Librarey"—a haven where families dealing with rare diseases discover and exchange invaluable resources. Uncover the genesis of their shared dedication to materializing resources for rare disease patients and their families.

The genesis of it all was Sierra's resource guide, crafted from her experiences as a caregiver to her son, Jack—a resilient spirit grappling with Warsaw Breakage Syndrome. Sierra opens up about her multifaceted role as a caregiver, mother, and advocate for her son. Meanwhile, Albert sheds light on his background and inspiration for contributing to the Rare Disease community.

Join us on this journey to unravel the extraordinary evolution of Librarey, guided by the visionaries who set it in motion. This episode is heartwarming and inspiring.

This episode features Megan Loden, a mother to two rare disease patients. Megan's story starts in 2020 with a life-altering phone call that changed everything for her Identical twin girls. We delve into their journey from diagnosis to treatment and how her determination led her to become an advocate, chairing the Arizona Angioma Community Alliance. 

Megan has a unique spirit filled with resilience, determination, and bravery. She shares her story, and we discover the power of support, advocacy, and the quest for a better tomorrow in this compelling episode.

Join us for a captivating episode as we spotlight Abbey Hauser, an inspiring young adult who bravely navigates life's challenges while living with a rare disease. In this episode, Abbey's story unfolds, driven by their determination to break barriers and embrace vulnerability.

Sparked by the transformative words of Brene Brown's "Daring Greatly," Abbey embarks on a remarkable journey. After years of resilience with Classical Ehlers-Danlos Syndrome, they find the courage to share their experience with the world. With an unwavering spirit, Abbey's mission goes beyond personal clarity – they seek to uplift and inspire the chronic illness community.

As a dedicated advocate, Abbey's involvement with the EveryLife Foundation for Rare Diseases speaks volumes. Their proactive role in the Young Adult Rare Representatives Program showcases their commitment to making a difference. Through engaging with lawmakers and empowering others on their own journeys, Abbey's advocacy illuminates the path toward strength and understanding.

Tune in for a robust conversation that sheds light on Abbey Hauser's extraordinary journey, their commitment to advocacy, and their unwavering dedication to a cause that impacts lives.

In this thought-provoking episode of our podcast, we have the privilege of speaking with Makenzie Cabrera, a remarkable mother who shares her journey of raising a child with Familial Cold Autoinflammatory Syndrome (FCAS), a rare and debilitating genetic disorder. Through heartfelt storytelling and candid discussions, Makenzie provides an intimate glimpse into the daily challenges and triumphs of living with this condition. Join us as we delve into the impact of FCAS on her son's life and the resilience they both exhibit in the face of adversity.

Tune in to this episode as we shed light on the rare and often misunderstood world of Familial Cold Autoinflammatory Syndrome and discover the incredible strength and resilience of Makenzie and her son.

Resources for FCAS:

https://linktr.ee/makenziecabrera

https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/

Jonathan sits down with Becky, a remarkable individual living with Koolen de Vries, a rare genetic disorder. In this heartfelt episode, she shares her personal journey and opens up about her children's experiences with the disease. Tune in to gain insights into the challenges, triumphs, and incredible resilience of those impacted by Koolen de Vries. Don't miss this inspiring conversation on our rare disease podcast.

To learn more Koolen de Vries, Becky and her story:

https://instagram.com/koolen.mama?igshid=ZDdkNTZiNTM=https://instagram.com/thrivingrare?igshid=ZDdkNTZiNTM=https://www.facebook.com/groups/1094459464720257/?ref=share_group_linkhttps://www.facebook.com/groups/752446806195416/?ref=share_group_link

https://kdvsfoundation.org/

#RareDiseaseJourney #GeneticDisorderAwareness #RareDiseaseLife #InvisibleStruggles #RareDiseaseSupport #GeneticDisorderWarrior #RareDiseaseAdvocate #GeneticDisorderCommunity #RareDiseaseInspiration #livingrare #RareDiseaseStrong #RareDiseaseAwarenessCampaign #GeneticDisorderFight #RareDiseaseWarriorStories #koolendevries