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 

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 about Mic-Cap: https://www.ncbi.nlm.nih.gov/books/NBK174452/

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:  https://www.alz.org/ 

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 Deficiency, visit:

https://rarediseases.org/rare-diseases/pyruvate-dehydrogenase-complex-deficiency/

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: https://linktr.ee/lifewithjamieandmore

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 has learned along the way. She shares her wisdom and positivity about being on this journey. And we talk about her foundation, the Kourageous Karter Foundation. Their Mission is to make life better for medically complex kids and the people who love them. And their Motto is Kourage: Strength in the face of grief or pain.    

To learn about Tiffany and her work/resources, visit: https://kourageouskarter.org/

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 diseases, while changing the medical perspective through advocacy, education, and public policy efforts. And they discuss their journey with Elijah from their everyday life, their ups and downs, and everything in between with being Elijah’s parents.     

To learn more about Trisomy 18: https://my.clevelandclinic.org/health/diseases/22172-edwards-syndrome    

To learn about Sarita, Kareem, and their work, visit: https://theewefoundation.org/about/   

#rarediseaseawareness #trisomy18  #ultrararedisease #raredisease #rare #geneticdisorder #genetics #chronicillness  #podcast #podcasts #podcasting #podcaster #podcastlife #podcastersofinstagram #podcasters #podcastshow #applepodcast #spotifypodcast

In conversation 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 Mike have made it their mission to bring awareness to SPG 50 by starting a nonprofit organization called "Jack's Corner" to raise funds so that all children with SPG50 can receive this gene therapy. Our goal is that no child or family ever gets this news again without feeling hope and knowing there is a cure.

To learn more SPG50 : https://rarediseases.org/rare-diseases/spastic-paraplegia-50/#:~:text=Spastic%20paraplegia%2050%20(SPG50)%20is,seizures%2C%20and%20progressive%20motor%20symptoms.

To learn about Devin, Mike, and their work, visit: https://www.jackscorner.org/

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-disease mothers.   

To learn more Spinal Muscular Atrophy (SMA): https://www.curesma.org/

To learn about Nikki and her work, visit: https://raremamas.com/