Season 5, Episode 16: In conversation with Brendan James Clark

→ About Brendan: Brendan is a patient who had a Desmoid Tumor. He was diagnosed with a desmoid tumor in his  abdomen at the age of 19, following a car accident, extended hospital stays and major abdominal surgery to confirm the diagnosis. This experience has given him  a unique perspective, both as a patient and future doctor.

He is currently a third-year medical student with a strong passion, especially for surgery and oncology. His  journey has been shaped by his personal experience as a desmoid patient, which has shown him the value of improving patient care, raising awareness for rare diseases, and advocating for better overall understanding. He wants to use his experience as a patient to become the kind of doctor he wishes he had throughout his journey.

→ What is a Desmoid tumor? They are rare growths that derive from connective tissue. 

→ Resources Brendan shared?:

https://dtrf.org/

https://rarediseases.org/rare-diseases/desmoid-tumor/

https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoid-tumor

Season 5, Episode 14: In conversation with Camryn Berry

→ About Camryn: Camryn Berry is a young adult living with Fibrous Dysplasia/McCune-Albright Syndrome. Through her experiences getting diagnosed with her condition as a child, growing up in rural Maine, she has had numerous experiences in her rare disease odyssey. Most importantly, being the first female child to receive a medication recommended by the NIH, ending her need for further surgeries.Now as an adult, Camryn is a remarkable individual who is paving a bright path forward as a “patient scientist”, a Ph.D. candidate at Boston Children’s Hospital and Harvard Medical School.  She has a unique intersection of her experiences as a patient living with FD/MAS and a Ph.D. researcher studying the disease. This journey has highlighted the importance of incorporating patient perspectives in shaping research questions, study designs, and outcome measures that reflect patient priorities. She is committed to demonstrating how meaningful collaboration between researchers and patients can lead to more impactful and relevant discoveries.
→ What is Fibrous Dysplasia/McCune-Albright Syndrome?: Fibrous dysplasia (FD) is a rare disease where normal bone is replaced with scar-like fibrous tissue. This condition can occur in any bone in the body and can sometimes affect more than one bone. The most common sites for fibrous dysplasia are the bones in the skull and face - mine is in my left palate, cheek, and eye bone. Fibrous dysplasia can occur alone or as part of McCune-Albright Syndrome (MAS). In MAS, the endocrine system and skin are also affected.

→ Resources Camryn shared?:

@fdysplasiaorg
@everylifeorg
@foundationforfacesofchildren

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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity

#FibrousDysplasia

#McCuneAlbrightSyndrome

#FDMASAwareness

Season 5, Episode 13: In Conversation with Clio Lang
→ About Clio: Clio Lang, speaker, model and author of “No One’s Daughter” is a brain surgery survivor dedicated to finding a cure for hydrocephalus. She is a Rare disease legislative advocate through the Every Life Foundation.
It is important to note that Hydrocephalus can happen to anyone. Over 1 million patients in America have hydrocephalus and shunts have a 50% failure rate. Meaning that brain surgery is the only treatment for this condition.
She shares her experience of living with this condition—managing daily life as a rare disease patient, navigating the medical system, and finding joy even in difficult moments. Clio taught me the power of storytelling, the importance of using your voice to drive change, and what it means to stand firmly on the right side of a cause.
→ What is Congenital Hydrocephalus (Hydro)?: It is a condition where the brain cannot drain CSF itself and requires a brain shunt. She has a programmable shunt called a Codman Certas Plus, which is connected to a catheter running from her brain to her abdomen. She has a rare form of hydrocephalus resulting from a brain bleed at birth.
→ Resources Clio shared?: 
@hydroassoc
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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #HydrocephalusAwareness #BrainHealth #LivingWithHydrocephalus #HydroWarrior #MedicalAdvocacy

Season 5, Episode 12: In conversation with Siobhain Carolan

→ About Siobhain: Siobhain Carolan is a rare disease patient with Congenital Myasthenic syndrome and was misdiagnosed for 10 years. Despite her challenges, she has found her voice in advocacy, especially with the Everylife Foundation. I met Siobhain in 2023 through Rare Disease Week on Capitol Hill. She is a fellow Connecticut rare warrior and a dear friend. 
She is using her voice to fight for a better tomorrow on all levels from her hometown in Connecticut to Washington D.C. Her next and most exciting venture will be on May 31  in Boston, where “Team Shivvy” will be walking to raise awareness and funds with @myastheniaorg .

All funds raised support the Myasthenia Gravis Foundation of America (MGFA), the largest, leading patient advocacy organization solely dedicated to finding a cure for the rare neuromuscular disease myasthenia gravis.
→ What is Congenital Myasthenic Syndrome?: CMS is a group of inherited neuromuscular disorders that cause muscle weakness due to problems at the neuromuscular junction, where nerves and muscles connect.
#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #MyastheniaGravis #MGWarrior #ChronicIllness #AutoimmuneDisease #MGStrong #NeuromuscularDisease #InvisibleIllness #RareDisease #MGAwareness #FightMG

Season 5, Episode 12: In conversation with Shea Linton

→ About Shea: She is a patient advocate living with Idiopathic Thrombocytopenic Purpura (ITP) and Hypermobile Ehlers-Danlos Syndrome (hEDS). She has served as a South Carolina Representative through the Young Adult Rare Representatives (YARR) organization since February 2022. As a graduate of Winthrop University, she plans to attend medical school to pursue her goal of becoming a pediatrician. She hopes to use her personal experience living with multiple rare diseases to spread awareness about the issues facing the rare disease community. Raised in rural South Carolina, she seeks any opportunity to educate on the disadvantages surrounding a lack of access to care.
→ What is Idiopathic Thrombocytopenic Purpura (ITP)?: Idiopathic Thrombocytopenic Purpura (ITP) is a rare autoimmune condition characterized by a low platelet count, leading to easy bruising and bleeding.
→ What is Hypermobile Ehlers-Danlos Syndrome (hEDS)?: 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.
→ Where to find Shea?: 
@shea_linton
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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #IdiopathicThrombocytopenicPurpura #ITPawareness #PlateletDisorder #HypermobileEDS #hEDSawareness #EhlersDanlosSyndrome #connectivetissuedisorder

Season 5, Episode 10: In conversation with Aaron Blocker

→ Who?: Aaron Blocker is a rare disease patient, content creator and Executive Director of the Mississippi Rare Disease Advisory Council.
He was born showing signs and symptoms of Hypophosphatasia (HPP), but didn’t receive a formal diagnosis until the age of 25.
Since then, he has undergone 27 surgeries related to HPP, including four total hip replacements beginning at age 20. In addition to HPP, he also lives with Crohn’s disease.
He is passionate about advocating for the rare disease community and currently serves as the Executive Director of the Mississippi Rare Disease Advisory Council. Some of the most valuable resources in his rare disease journey have been NORD and the Soft Bones Foundation, which focuses specifically on HPP.
Outside of advocacy, he’s a self-proclaimed science nerd. He holds a Master’s degree in Biomedical Research and works as a Population Health Data and Analytics Consultant for a hospital system. His combination of lived experience and scientific expertise fuels his mission to raise awareness, foster connection, and push for improved care and policy for those affected by rare diseases.
→ Rare Disease Connection: Aaron is a rare disease patient and advocate.
→ What is Hypophosphatasia (HPP)?: Hypophosphatasia is an ultra-rare metabolic bone disease caused by a genetic mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene. Which doesn’t allow my body to make enough alkaline phosphatase, an enzyme important for bone health.
→ Where to find Aaron?:
@aaronblocker_
→ Resources Aaron shared?:
https://rarediseases.org/mondo-disease/hypophosphatasia/
https://softbones.org

https://medlineplus.gov/genetics/condition/hypophosphatasia
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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #Hypophosphatasia #HPPawareness #RareDisease #LivingWithHPP #BoneHealthMatters #ChronsDisease #IBDAwareness #ChronicIllness #FightUC #GutHealth

Season 5, Episode 9: In conversation with Shezad Nawab MBE

Meet Shezad – a trailblazing Deaf entrepreneur, business strategist, and international speaker with over two decades of experience in business strategy, venture capital, executive coaching, and management consultancy. Shezad is on a mission to break down communication barriers and champion inclusive business practices that empower Deaf professionals around the globe.

His Legacy of Excellence Includes:

• 9 Business Awards – Celebrated for groundbreaking achievements in entrepreneurship

• MBE 2017 – Honored for outstanding service in business and diversity

• Author of Born Deaf To An MBE – A powerful memoir chronicling his inspiring life journey

• Fluent in 6 Sign Languages – Including BSL, ASL, SASL, MSL, IS, and Arabic Sign

Tune in to hear Shezad’s unique insights, untold stories, and powerful conversations that push the boundaries of what’s possible.

Season 5, Episode 8: In Conversation with Lauren Schoeller

→ Who?: Lauren Schoeller grew up in a small New Hampshire town, attending the University of New Hampshire for undergrad. She completed her Master’s in Biomedical Sciences through Tufts University School of Medicine and is applying to medical school as an aspiring orthopedic surgeon.  Now, she is a Clinical Assistant in Boston, MA, with prior experience in clinical research. 

She was born with a rare genetic condition called Conradi-Hunermann Syndrome, which primarily impacts the musculoskeletal system, but also affects her hearing, vision, and skin. Lauren has undergone nearly 30 surgeries, ranging from limb lengthenings, a spinal fusion, hip reconstructions, and others in order to regain functionality and reduce pain. Patient advocacy is one of her greatest passions that stemmed from her experiences as a patient and has informed her perspective as a future healthcare professional. She is an Executive Board Member for Miles4Hips, a patient-driven hip dysplasia organization, the Director of Beautifully Made Community, a limb difference advocacy organization, and has most recently joined the Young Adult Rare Representatives through the EveryLife Foundation for Rare Diseases to take an active role in advocating for policy impacting the rare disease community. In her free time, Lauren enjoys exploring Boston, spending time with friends and family, and staying active— she is training for her first triathlon!

→ Rare Disease Connection: Lauren is a rare disease and advocate patient living with Conradi-Hunermann Syndrome. 

→ What is Conradi-Hunermann Syndrome?: It primarily impacts the musculoskeletal system, but also affects her hearing, vision, and skin. Lauren has undergone nearly 30 surgeries, ranging from limb lengthenings, a spinal fusion, hip reconstructions, and others in order to regain functionality and reduce pain.

→ Where to find Lauren?:
@lauren.schoeller
@patientperspectivespod
→ Resources Lauren shared:
@beautifullymade_community
@miles4hips

Season 5, Episode 7: In Conversation with Erin Danzer
→ Who?: Erin Danzer is a 26 year old and is in the process of transferring to Cal-state to pursue her bachelor’s in Communications. She loves to write and craft in her spare time. She is a fierce advocate for FOP, rare disease and the chronic illness community, utilizing her social media to raise awareness.
→ Rare Disease Connection: Erin is a rare disease and advocate patient living with Fibrodysplasia ossificans progressiva (FOP).
→ What is Fibrodysplasia ossificans progressiva (FOP)?: It is an extremely rare genetic connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present (heterotopic ossification), such as the ligaments, tendons and skeletal muscles. Specifically, this disorder causes the body’s skeletal muscles and soft connective tissues to undergo a metamorphosis, essentially a transformation into bone, progressively locking joints in place and making movement difficult or impossible.
→ Where to find Erin?:

@erinlovesyourface

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#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness #PodcastLife #PodcastsToListenTo #PodcastRecommendations #PodcastCommunity #FOP #FibrodysplasiaOssificansProgressiva #RareDisease #FOPAwareness #FOPResearch #FOPCommunity #FOPWarriors #FightFOP #CureFOP #fopsupport