Season 5, Episode 6: In Conversation with Sydney Alper

→ Who?: Sydney Alper, a best buddies ambassador and an advocate for people with disabilities.

→ Rare Disease Connection: Sydney has  as a rare chromosome disorder called Chromosome 18q-proximal deletion. 

→ What is Chromosome 18q proximal deletion: It  is a genetic disorder that occurs when a portion of the long arm (q) of chromosome 18 is missing. This deletion typically involves the region near the centromere, the point where the two arms of a chromosome are joined. 

→ Where to find Sydney?:

@disabilitiesunite21

Season 5, Episode 5: In Conversation with Laura Romano

Rare Disease Week Special Episode!!!

→ Who?: Laura Romano, Program Manager for @hearusyarr and a rare disease patient. 

→ Rare Disease Connection: Laura oversees the young adult rare and is a indvidual with Classical-like Ehlers-Danlos Syndrome (clEDS).

→ What is YARR?: Young Adult Rare Representatives (YARRs) are highly motivated rare disease community members between 16 and 30 years old. The main purpose of YARR is to instill confidence in the next generation of rare disease advocates.

→ What is Classical-like Ehlers-Danlos Syndrome (clEDS):  a heritable connective tissue disorder that causes severe skin hyperextensibility, velvety skin texture, generalized joint hypermobility, and easy bruising. clEDS is an ultra-rare disorder that affects less than 1 in 1 million people.

→ Where to find Laura and YARR?:

https://everylifefoundation.org/young-adult-representatives/

https://everylifefoundation.org/

sharingmystripes (Laura) on Instagram

hearusyarr (YARR) on Instagram

—

#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #PodcastForACause #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #ClassicalEDS #clEDS #EhlersDanlosSyndrome #CollagenDisorder #HypermobileJoints #SkinHyperextensibility #GeneticCondition #RareDisorder #ConnectiveTissueDisorder #EDSTypeI

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?:

@

—

#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

→ Who?: Wes Michael, 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 voice 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 their

patients, a reliable partner to our clients, a responsible employer for their staff, and a

good citizens in their 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: In Conversation with Carter Hemion

→ Who?: Carter Hemion, 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 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. Collagen is a tough, fibrous, protein, and 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 #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #EhlersDanlosSyndrome #EDS #ChronicPain #HypermobileEDS #InvisibleIllness #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]

—
#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/

—

#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