Season 5, Episode 4: In conversation with Bailey Miller.

→ Who?: Bailey Miller, a rare disease patient, a young adult rare representative

→ Rare Disease Connection: Bailey is a patient living with Occult Tethered Cord Syndrome & Syringomyelia.

→ What is Tethered cord syndrome: is a stretch-induced functional disorder associated with the fixation (tethering) effect of inelastic tissue on the caudal spinal cord, limiting its movement. This abnormal attachment is associated with progressive stretching and increased tension of the spinal cord as a child ages, potentially resulting in a variety of neurological and other symptoms. 

Syringomyelia: the development of a fluid-filled cyst within the spinal cord. The cyst, which is sometimes called a syrinx, can grow larger over time. 

→ Where to find Bailey?:

@

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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #PodcastForACause #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #TetheredCordSyndrome #TCSAwareness #SpinalCordDisorders #TetheredCord #Syringomyelia #SyringomyeliaAwareness #ChronicPain #SpinalCordDisorders #InvisibleIllness

Season 5, Episode 3: In conversation with Ken Sullivan

→ Who?: Ken Sullivan, a rare disease, patient and advocate. 

→ Rare Disease Connection: Ken patient living with Hypermobile Ehlers-Danlos Syndrome; Periodic Limb Movement Disorder.

→ What is Hypermobile Ehlers-Danlos Syndrome: Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain. hEDS is also associated with a variety of other symptoms and related conditions that affect many different areas of the body.

Periodic Limb Movement Disorder: Periodic limb movement disorder is rarely a primary disorder. It is mainly associated with restless leg syndrome, which may be primarily idiopathic or secondarily due to pregnancy or systemic disorders, particularly iron deficiency and chronic renal insufficiency.

Season 5, Episode 2: In conversation with Wes Michael

→ About Wes: Wes Michael is the President and Founder of Rare Patient Voice.

→ Rare Disease Connection: Wes Michael founded Rare Patient Voice in 2013 to give patients and caregivers with rare diseases the opportunity to share their opinions in research studies.

→ What is Rare Patient Voice?: Rare Patient Voice empowers patients and family caregivers to share their voices with researchers and companies developing products, devices, and treatments to improve lives. Their vision is to include the patient voice in research and ultimately improve the lives of patients everywhere.Rare Patient Voice is built on the core values of being a supportive resource for patients, a reliable partner to clients, a responsible employer for staff, and a good citizen in the community. They are always listening to three key voices—their patients, clients, and employees.

→ Where to Find Wes and Rare Patient Voice:
https://www.linkedin.com/in/wesmichael
https://www.instagram.com/rarepatientvoice
https://www.facebook.com/rarepatientvoice

⁠Season 5, Episode 1: Rare Disease - Carter Hemion - Ehlers-Danlos Syndrome, Mast Cell Activation Syndrome & Gastroparesis⁠

→ About Carter:

Carter Hemion is a trailblazing advocate in the rare disease, disability, and immunocompromised spaces.

→ Rare Disease Connection:

Carter is an individual living with Ehlers-Danlos syndrome, Mast Cell Activation Syndrome, and Gastroparesis.

→ What is Ehlers-Danlos Syndrome?

Defined by the National Organization of Rare Diseases (NORD), Ehlers-Danlos syndrome (EDS) is a group of related disorders caused by different genetic defects in collagen. Collagen is one of the major structural components of the body. It is a tough, fibrous protein that serves as a building block essential in both strengthening connective tissue (e.g., bones) and providing flexibility where needed (e.g., cartilage).

→ Where to Find Carter:

@carter_cricket

#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #PodcastForACause #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #EhlersDanlosSyndrome #EDS #ChronicPain #HypermobileEDS #MastCellActivation #MCAS #ChronicIllness #AllergySymptoms #InvisibleDisability

Season 4, Episode 11: In conversation with Madison Bowe. 

Who?: Madison Bowe, an incredible patient advocate.

Rare Disease Connection: Madison is an individual living Stiff Person Syndrome. She is leveraging her experience with a rare disease and the challenges of her diagnostic journey to advocate for a better future for others facing similar health struggles.

What is Stiff Person Syndrome: Defined by the National Organization of Rare Diseases (NORD )Stiff person syndrome (SPS) is a rare acquired neurological disorder that most often causes progressive muscle stiffness (rigidity) and repeated episodes of painful muscle spasms. Muscular rigidity often fluctuates (i.e., grows worse and then improves) and usually occurs along with the muscle spasms. Spasms may occur randomly or can be triggered by a variety of different events or circumstances including a sudden noise, light physical contact or when exposed to cold. The severity and progression of SPS varies from one person to another.

Where to find Madison?:

@catholicinspiration09 on Instagram or [email protected]

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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #PodcastForACause #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity ##StiffPersonSyndrome #SPSAwareness #RareDisease #AutoimmuneDisorders #FightForSPS

Season 4, Episode 10: In Conversation with Patrick James Lynch, CEO of Believe Limited

→ Who?: Patrick James Lynch is the founder and CEO of Believe Limited, a media production company dedicated to telling the stories of inspiring individuals overcoming health challenges, particularly those in the bleeding disorders community. 

→ Rare Disease Connection: Patrick is an individual living with Hemophilia A. Based on his own personal experiences with his condition, and his passion for film and media – he teamed up with Ryan Gielen to create their first project was Stop The Bleeding!, a comedic web series for young people with hemophilia. 

→ What is Hemophilia A?: Defined by the National Organization of Rare Diseases (NORD) Hemophilia A, also known as classical hemophilia, is a genetic bleeding disorder caused by insufficient levels of a blood protein called factor VIII. Factor VIII is a clotting factor. Clotting factors are specialized proteins that are essential for proper clotting, the process by which blood clumps together to plug the site of a wound to stop bleeding. Individuals with hemophilia A do not bleed faster or more profusely than healthy individuals, but because their blood clots poorly, they have difficulty stopping the flow of blood from a wound.

→ Where to find Patrick?: 

https://www.believeltd.com/

https://www.instagram.com/believeltd/

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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #PodcastForACause #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #ListenUp #HemophiliaA #BleedingDisorder #HemophiliaAwareness #FactorVIII #LivingWithHemophilia

Season 4, Episode 6: In conversation with Katherine “Katie” Greenstein (Tiktok: @chronically.katie & Instagram: @katherine.greenstein ).

Katie is a friend of the podcast and a guest on this episode. Katie is much more than that; they are a fearless advocate for themselves and others in the rare, chronically ill, and disabled communities. 

Season 4, Episode 9: In Conversation with Justin Najimian.

Justin is a prime example of young adults who will change the world. Justin's connection to rare diseases began when he was diagnosed with Hemophilia A. This rare hereditary bleeding disorder occurs when the body lacks enough of a clotting factor protein called factor VIII."

Through his experience with this condition, he has paved the way forward, enriching his life through involvement with various organizations, including Dance Marathon at his alma mater, Rutgers University, and The Hole in the Wall Gang Camp in Connecticut. His passion has evolved into a professional pursuit, as he recently completed his Masters in Public Health focusing on LGBT Health this spring and will begin studying to become a Genetic Counselor in the fall.

Justin’s positive spirit and his passion to pave the way is a good reminder that the future of healthcare is in terrific hands. 

RESOURCES MENTIONED 

#HemophiliaA #RareDisease #FactorVIII #BleedingDisorder #HemophiliaAwareness

#RareDisease #RareDisorders #RareConditions #RareDiseaseAwareness #RareDiseaseDay

#RareDiseasePodcast #RareConditionsPodcast #RareDiseaseAwarenessPodcast #RareDiseaseDiscussion #RareDiseaseStories

#LGBTHealth #QueerHealth #LGBTQHealthcare #LGBThealth

Season 4, Episode 8: In conversation with Vamsi Koduri.

Vamsi has many hats. He is an author, advocate, and a father on a mission to create a better tomorrow. 

His son Maurya was diagnosed with SPG4 Hereditary Spastic Paraplegia.  Typically a hereditary disease, however in Maurya’s case, the mutations were “de novo”, meaning the gene randomly mutates during embryo development and is not inherited from a parent.

This diagnosis was devastating to Vamsi and his wife but they chose to follow their faith in positivity and pave the way for their son to create a better tomorrow. They established a foundation in Maurya’s name. The Maurya Koduri Foundation’s mission is to increase awareness and to fund research to develop a treatment for Maurya and others with de novo Hereditary Spastic Paraplegia SPG4. 

Maurya is full of life despite his circumstances. He excels at the piano, eagerly constructs LEGO sets, adores math and science, enthusiastically immerses himself in video games, harbors a deep fascination for animals and plants, religiously tracks NBA/NFL games, enjoys watching and playing various sports, actively engages in wheelchair basketball, and swimming.  

Despite the darkness they face, Vamsi and his family are a beacon of light. This episode is a reminder to choose faith and hope because there is always a chance. And for Vamsi, Maurya deserves a chance.

To find out more about Maurya's story go to: https://www.mauryakoduri.org/

Season 4, Episode 7: In conversation with Kyle Underwood and Adam Haas.

Meet Kyle Underwood; a fierce advocate and loyal friend who navigates life with MPS II, also known as Hunter Syndrome, a rare genetic disorder. It is characterized by the abnormal accumulation of complex sugars in cells, impacting multiple bodily systems primarily affecting boys.

Kyle's resilience and strength shine through, teaching us invaluable lessons beyond any label.

In this incredible roundtable, join me, Kyle, and his best friend, Adam Haas, as they share their candid insights into the world of rare diseases, Kyle's journey, and the transformative power of allyship.

Together, Kyle and Adam are on a mission to raise awareness and support within the rare disease community. Their unwavering friendship is a powerful testament to the bonds of unconditional support and authenticity. Through their shared experiences, Kyle and Adam inspire us all with their genuine friendship and commitment to uplifting each other's true selves.

May 15 is MPS II Day, a dedicated occasion to raise awareness and support for individuals living with Hunter syndrome, highlighting their journeys and advocating for improved care and research.

Resources for MPS II / Hunter Syndrome: