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Season 3, Episode 8: Familial Cerebral Cavernous Malformations

58:26

Season 3, Episode 7: Classic Ehlers-Danlos syndrome

50:21

Season 3, Episode 6: Familial Cold Autoinflammatory Syndrome

32:00

Season 3, Episode 5: Koolen de Vries with Becky Tilley

36:15

Season 3, Episode 4: Mic-Cap Syndrome

28:46

Season 3, Episode 3: Fran the Millennial Caregiver

43:16

Season 4 Episode 1 : CTNNB1 - Effie Parks

Effie Parks joins me for our Season 4 premiere! 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 in your own way 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.

มุมมอง: 4

วีดีโอ

Season 3, Episode 8: Familial Cerebral Cavernous Malformations

58:26

Season 3, Episode 8: Familial Cerebral Cavernous Malformations

มุมมอง 7ปีที่แล้ว

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 resilien...

Season 3, Episode 7: Classic Ehlers-Danlos syndrome

50:21

Season 3, Episode 7: Classic Ehlers-Danlos syndrome

มุมมอง 18ปีที่แล้ว

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 yea...

Season 3, Episode 6: Familial Cold Autoinflammatory Syndrome

32:00

Season 3, Episode 6: Familial Cold Autoinflammatory Syndrome

มุมมอง 48ปีที่แล้ว

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 o...

Season 3, Episode 5: Koolen de Vries with Becky Tilley

36:15

Season 3, Episode 5: Koolen de Vries with Becky Tilley

มุมมอง 26ปีที่แล้ว

Jonathan has the privilege of sitting down with Becky, a true warrior battling Koolen de Vries, a rare genetic disorder. Join us as she candidly discusses her personal journey and sheds light on her children's experiences with the disease. Get ready for an enlightening conversation filled with hope, strength, and a deep understanding of Koolen de Vries. Watch now and be inspired! #RareDiseaseVl...

28:46

Season 3, Episode 4: Mic-Cap Syndrome

มุมมอง 84ปีที่แล้ว

This week, Jonathan speaks with Lauren, the Mom of Finn, who was born with Mic Cap; Microcephaly-capillary malformation (MIC-CAP) syndrome is an autosomal recessive disorder caused by biallelic STAMBP pathogenic variants. They discuss their journey to Finn’s diagnosis, his life with the condition, and finding purpose after loss. Finn is no longer with us, but his memory is alive. To learn more ...

Season 3, Episode 3: Fran the Millennial Caregiver

43:16

Season 3, Episode 3: Fran the Millennial Caregiver

มุมมอง 7ปีที่แล้ว

In this episode, Jonathan sits down with Fran, a millennial caregiver “carennial” to her late father. After his passing, she has made it her purpose to educate and advocate for young caregivers caring for those with Alzheimer’s and Dementia. For resources on Alzheimer’s Disease, visit: www.alz.org/ #alz #endalz #alzheimers #alzheimersassociation #alzheimersawareness #millennials #millennialcare...

Season 3, Episode 2: Pyruvate Dehydrogenase Complex Deficiency

48:05

Season 3, Episode 2: Pyruvate Dehydrogenase Complex Deficiency

มุมมอง 24ปีที่แล้ว

In this episode, Jonathan sits down with Patricia, a mom and a caregiver of a child with Pyruvate Dehydrogenase Complex Deficiency. Wyatt is a 3-year-old with lots of energy, passion, and setbacks that he faces with a positive attitude. She discusses her journey as Wyatt's mom and caregiver and as an individual living with her own Rare Disease. For resources on Pyruvate Dehydrogenase Complex De...

Season 3, Episode 1: The Dad Perspective with Steve, Host: Life with Jamie and More

58:38

Season 3, Episode 1: The Dad Perspective with Steve, Host: Life with Jamie and More

มุมมอง 9ปีที่แล้ว

On the Season 3 premiere, Jonathan talks with Steve, a podcast host of Life with Jamie and More, a father, a caregiver, and so much more. In this episode, they discuss the roles of being a caretaker and a father to his son Jamie born with Down Syndrome. Through his reflections on highs and lows, he gives an insightful perspective on life. To learn more about Steve and his work: linktr.ee/lifewi...

Season 2, Episode 10: Tiffany Goodchild, Kourageous Karter Foundation

46:38

Season 2, Episode 10: Tiffany Goodchild, Kourageous Karter Foundation

มุมมอง 24ปีที่แล้ว

On the season finale of Season 2, Jonathan sits down with Tiffany Goodchild, Karter’s Mom. Karter has spastic quadriplegia cerebral palsy, microcephaly (secondary to the HIE injury), a g-tube, is regarded as non-mobile/non-verbal, and seizures. Karter is the sweetest, silliest personality and most infectious smile! Tiffany and Jonathan discuss Karter’s day-to-day, his needs, and the lessons she...

Season 2, Episode 9: Kareem and Sarita Edwards, The E.WE Foundation

54:05

Season 2, Episode 9: Kareem and Sarita Edwards, The E.WE Foundation

มุมมอง 14ปีที่แล้ว

On today’s episode, Jonathan sits down with Kareem and Sarita Edwards. They are parents to Elijah who has Trisomy 18, otherwise known as Edwards Syndrome. They discuss their non-profit organization “The E. WE Foundation”, named after Elijah. Their foundation's mission is to provide resources and support for families affected by Edwards Syndrome, commonly known as Trisomy 18, and other rare dise...

Season 2, Episode 8: Jack’s Corner Foundation, SPG 50: Devin and Mike Dwyer

41:50

Season 2, Episode 8: Jack’s Corner Foundation, SPG 50: Devin and Mike Dwyer

มุมมอง 21ปีที่แล้ว

On today’s episode, Jonathan sits down with Devin and Mike Dwyer. They are parents to Jack who has SPG50. They discuss their journey with Jack and his rare disease. SPG50 is degenerative, both physically and mentally, and that spasticity progresses from a child's legs to their hands before mental decline starts. Jack would slowly lose the functionality of his body and then his mind. Devin and M...

44:08

Season 2 Episode 7 Nikki McIntosh

มุมมอง 512 ปีที่แล้ว

In today’s episode, Jonathan sits down with Nikki McIntosh, the founder of "Rare Mamas". She discusses her journey with her son Miles and his rare disease, Spinal Muscular Atrophy (SMA). Nikki has immersed herself in the world of SMA, rare diseases, and disabilities and has become a fierce advocate for these communities. Nikki uses her faith, experiences, and writing to empower fellow rare-dise...

Season 2, Episode 6: Lamb Shaffer Syndrome with Dr. Tommy Martin

1:00:11

Season 2, Episode 6: Lamb Shaffer Syndrome with Dr. Tommy Martin

มุมมอง 4972 ปีที่แล้ว

Jonathan sits down with Dr. Tommy Martin: a doctor of Internal Medicine and Pediatrics, a husband, and a father to Oliver, who has Lamb Shaffer Syndrome. This episode has been a year in the making! Jonathan talks to Tommy about fatherhood, being a caregiver to his son, Lamb Shaffer Syndrome, being a physician, and everything in between. Dr. Tommy is one of Jonathan's role models, and he is so e...

Season 2, Episode 5: Cystic Fibrosis and Patient Advocacy with Ella Balasa

47:39

Season 2, Episode 5: Cystic Fibrosis and Patient Advocacy with Ella Balasa

มุมมอง 182 ปีที่แล้ว

In today’s episode, Jonathan sits down with Ella Balasa, a patient advocate and a person living with Cystic Fibrosis. She shares her experience with her disease and the opportunities she has had as a patient advocate. She is insightful, resourceful, and a champion in the face of adversity. To learn more about Cystic Fibrosis, visit: www.cff.org/ To learn about Ella and her work, visit: www.ella...