1 of 20 Podcast

Season 6, Episode 8: In Conversation with Rob Long

Rob, a former All-American punter at Syracuse. In 2010, during his senior season, he was diagnosed with a rare form of brain cancer. His treatment lasted 14 months, ending his NFL aspirations.

A Syracuse University graduate, Rob earned a B.S. from the Whitman School of Management and a Master’s in New Media Management from the Newhouse School.

He became the Executive Director of Uplifting Athletes in 2018 after joining the organization in 2016. Uplifting Athletes has now funded more than $1.4 million in research grants to the next generation of researchers and has provided unique Uplifting Experiences to more than 2,500 individuals impacted by a rare disease.

Where to find Rob?:

@upliftingathletes

@roblong47

Season 6, Episode 7: In Conversation with Dr. Reem Eissa & Mary Irwin

About Reem: Dr. Reem Eissa is the founder of The Fight Farber Foundation, a clinical psychologist, and a devoted mother whose life was forever changed when her son, Zayd, was diagnosed with Farber disease. What began as a mother’s search for answers for her child quickly became a mission driven by love, urgency, and hope.With a professional background in clinical psychology and a deep understanding of child development, Reem brings both clinical insight and lived experience to the rare- disease space. As Zayd’s mother, she has walked the uncertainty, fear, and isolation that accompany a diagnosis few physicians ever encounter. Confronted with limited research and a lack of coordinated support, she realized families needed more than information, they needed advocacy, connection, and action.Zayd’s diagnosis became the catalyst for founding The Fight Farber Foundation. Reem co-created the foundation with her loving husband, Emad, to accelerate research, raise awareness, and build a compassionate community so that no family faces Farber disease alone. At its core, the foundation exists to honor Zayd’s journey and to fight for every child and family impacted by this devastating condition.She can be found on social media @hopefor_zayd on TikTok and Instagram, where she shares snippets of daily life with Farber Disease.

Where to find Reem?:

@hopefor_zayd

FightFarber.com

[email protected]

About Mary: Mary Irwin is the board president of a 501(c)(3) charity known as SMA-PME Research and a devoted family member whose life was forever changed when her grandniece, Adeline, was diagnosed with SMA-PME. What began as a family’s search for answers after years of unexplained symptoms quickly became a mission driven by love, urgency, and hope.

With a deep understanding of the challenges that come with rare disease, Mary brings both personal experience and advocacy to the rare disease space. As Adeline’s aunt, she witnessed the uncertainty, fear, and isolation that accompanied a diagnosis few physicians ever encounter. After it took eight years for Adeline to receive a diagnosis, Mary saw firsthand the urgent need for research, awareness, and support for families affected by SMA-PME.

Adeline’s diagnosis became the catalyst for Mary’s involvement in SMA-PME Research. After learning that more research funding was needed, Mary formed the charity in February 2022 to help support research and make progress toward a better future for those affected by SMA-PME. At its core, the organization exists to honor Adeline’s journey and to fight for every family impacted by this rare disease.

Where to find Mary?:

https://sma-pme.org/

Special Note, about: "Tadpole Summer" by Catherine Bruton, as mentioned in the episode: https://www.amazon.com/dp/1839946520?lv=shuf&bestFormat=true&social_share=cm_sw_r_ffobk_cp_ud_dp_SNRJK8DRH358R6784TYH&channelId=704&ref_=cm_sw_r_ffobk_cp_ud_dp_SNRJK8DRH358R6784TYH&plpRedirect=mhFallback

Season 6, Episode 6: In Conversation with Jenni HargettJenni Hargett is an English instructor at Mississippi Delta Community College,wife to David, and mom to Ali, 19, and Cate, 11. As the parent of a child with arare disease, Jenni learned early on the importance of patient advocacy and thepower of having a community willing to stand beside you.Recent developments in Cate’s health have given that advocacy a new sense of urgency and purpose. Today, Jenni is committed not only to finding the stem celldonor Cate needs, but also to growing the national stem cell donor registry so that every patient searching for a lifesaving match has the best possible chance of finding one.Through Team Cate, what began as one family’s search for a match has grown into a much larger mission: raising awareness, educating communities aboutstem cell donation, and inspiring thousands of people to join the registry in hopes of saving a life. Since December 2025, Team Cate has registered nearly 10,000 new potential donors and located 12 potential matches for othersearching patients.RESOURCES & WAYS TO HELP CATE:• JOIN THE BONE MARROW REGISTRYNMDP• Ages 18–35: Text TEAM CATE to 61474 to receive a swab kit.• Swab at home and return it using the provided postage-paid envelope.• Once registered, you remain on the registry even after turning 36.DKMS•? Ifyou are over 35 (36-55), you can still join by using another company DKMS. Just go to www.DKMS.org/swabforcate, complete a form, and they’ll mail you a free swab kit. Return postage is included. HOST A DONOR DRIVE•Team Cate is looking for schools, churches, community organizations, and businesses interested in hosting donor-registration drives. Team Cate can travel to help organize a drive and walk you through the process.SHARE CATE'S STORY• Can't join the registry? You can still help by sharing Cate's story, encouraging others to register, and spreading awareness about stem cell donation.

Instagram: @team.cate | @jennihargett Facebook: Jenni Hargett and Team CateWatch Cate’s Story:⁠https://youtu.be/aQEaCnctJlg⁠Every share could help reach the person who can save a life. ⁠#TeamCate⁠ ⁠#BeTheMatch⁠ ⁠#BoneMarrowDonor⁠ ⁠#BoneMarrowDonation⁠ ⁠#DonateLife⁠ ⁠#RareDisease⁠ ⁠#RareDiseaseAwareness⁠ ⁠#StemCellDonation⁠ ⁠#HopeForCate

Season 6, Episode 5: In Conversation with Stephen Sasaki-Samuels

He is a dad to two boys, ages 18 and 15, who lives in Japan with Junko, his “rock star” wife.

In 2019, he experienced burnout. His life had reached a point where he began to realize that he was not being the person he wanted to be as a human, husband, or parent. Over the following months, through therapy, he began the process and journey of understanding what was going on with him and, importantly, why.

His first son, Jamie, was born in April 2008 and underwent three major operations. The experience was stressful, exhausting, traumatic, and overwhelming. He simply carried on, never fully understanding what was happening to him emotionally or recognizing how it was ultimately affecting the people dearest to him, especially his wife.

For 11 years, he was oblivious to the negative impact of his actions, lessons he is still learning from today.

Fast-forward to the present, and he is still learning—and believes he always will be—how to take care of himself physically and mentally, because it matters more than anything else to him.

He wants parents to be able to look at themselves in the mirror and say that they love themselves and give themselves compassion. Everyone is doing the best they can, but to truly care for others, they must put the oxygen mask on themselves first. They are no help to anyone if they cannot help themselves practice self-care and self-love.

There is no guilt in practicing real self-love as a parent. So many people are shaped and, at times, broken by their past experiences, but as he likes to say: broken crayons can still color.

Listen wherever you get your podcasts!

Season 6, Episode 4: In Conversation with Rose Dallimore 

I am honored to welcome Rose Dallimore, a restorative practitioner, writer, artist, and activist living with complex chronic illnesses, including rare spinal conditions and hypermobile Ehlers-Danlos syndrome.

In this episode, Rose shares her journey through chronic pain, complex diagnoses, and two major spinal surgeries that changed her mobility and quality of life. We talk about navigating healthcare as a woman, the ways chronic pain is often dismissed, and what it means to advocate for yourself when the answers aren't always clear.

Rose also opens up about her work in advocacy, art, and mutual aid, including the Our Body Justice Project, and why sharing our stories can become a powerful form of survival, connection, and change.

Rose's story is a powerful reminder that we don't have to suffer alone, and that finding your voice can create space for others to be heard.

Listen wherever you get your podcasts!

Resources discussed in this episode:

Tethered Cord Syndrome — https://www.uclahealth.org/medical-services/neurosurgery/conditions-treated/adult-tethered-cord

Atlantoaxial Instability — https://www.ncbi.nlm.nih.gov/books/NBK519563/Ehlers-Danlos Syndromes: Neurological & Spinal Manifestations — https://www.ehlers-danlos.com/2017-eds-classification-non-experts/neurological-spinal-manifestations-ehlers-danlos-syndromes/

Complex Regional Pain Syndrome (CRPS) — https://www.mayoclinic.org/diseases-conditions/crps-complex-regional-pain-syndrome/symptoms-causes/syc-20371151

Hypermobile Ehlers-Danlos Syndrome (hEDS) — https://www.ehlers-danlos.com/heds/

Endometriosis — https://www.endofound.org

Adenomyosis — https://my.clevelandclinic.org/health/diseases/14167-adenomyosis

Pudendal Neuralgia — https://www.nhs.uk/conditions/pudendal-neuralgia/

#1of20Podcast #RareDiseaseAwareness #RareDisease #RareDiseaseAdvocacy #WomensHealth #ChronicIllness #EhlersDanlosSyndrome #DisabilityAdvocacy

Season 6, Episode 3: In Conversation with Joyce Sireno 🧬💜

I am honored to welcome Joyce Sireno, a longtime Huntington’s disease advocate whose family has been deeply impacted by the disease across generations.

Joyce is at risk of having inherited Huntington’s disease. She has a 50/50 chance of having inherited the gene from her father, and if she has the gene, she will develop the disease.

Huntington’s disease can cause motor and physical symptoms, cognitive decline, and behavioral changes. It has been described as having Alzheimer’s, Parkinson’s, and dementia all at once. But for Joyce, what makes it even more devastating is the uncertainty — never knowing which symptoms will appear, when they will begin, or how quickly the disease will progress. There is currently no cure.

Joyce has chosen not to undergo genetic testing, knowing that the result would not change the course of the disease. She has lost her father, two sisters, and one brother, along with many friends, to Huntington’s disease.

We talk about turning grief into advocacy, finding hope in the future of Huntington’s research, and why caring for the families living with HD today matters just as much as finding a treatment for tomorrow.

A deeply personal conversation about family, uncertainty, advocacy, and choosing hope.

Listen wherever you get your podcasts!

Season 6, Episode 2: In Conversation with Bridget Downing 🦓✨

I am honored to welcome Bridget Downing  a Charleston, South Carolina teacher living with Friedreich’s ataxia, a rare neuromuscular disease that has reshaped—but never defined—her life. In this inspiring podcast, Bridget shares her personal journey from diagnosis to progression, how she navigates daily life using a Segway, and the resilience it takes to keep moving forward. She also explores the remarkable growth of the Friedreich’s Ataxia Research Alliance and reflects on her own recent step into advocacy—proving that it’s never too late to use your voice and make an impact. Honest, empowering, and deeply human, Bridget’s story is one of strength, adaptation, and hope.

In this episode, we discuss:

✨ Bridget's diagnostic odyssey and ultra-rare Friedreich's ataxia diagnosis

✨ The determination of parents navigating rare disease before the internet

✨ Living with disability, independence, and accessibility

✨ Building community through rare disease advocacy

✨ The importance of Rare Disease Week and legislative advocacy

✨ Finding purpose through resilience, education, and sharing your story

#1of20Podcast #RareDiseaseAwareness #RareDisease #FriedreichsAtaxia #RareDiseaseAdvocacy #AccessibilityMatters

Season 6, Episode 1: In Conversation with Joyce Fitz

I am excited to welcome Joyce Fitz to the podcast! 🗣️🦓✨

About Joyce: Joyce is a 17 year old rare disease advocate from Linden NJ living with Shwachman Diamond Syndrome, a rare form of bone marrow failure. She is a current senior at the academy for allied health and sciences with a hopeful major in public policy in college. She has been a congressional advocate for 4 years, with her most recent achievement being introducing a resolution in NJ state congress to have an awareness day for her condition. Outside of advocacy she can be found performing as a vocalist across various popular cabaret venues in NYC or horseback riding at Legacy Riding Stables. She is very excited to be speaking on this podcast!

What is Shwachman-Diamond Syndrome (SDS)?: Shwachman Diamond Syndrome is an ultra rare genetic disease affecting 1 in every 80,000 people. It causes bone marrow failure, in my case making my body unable to produce enough neutrophils and red blood cells. It also causes exocrine pancreatic insufficiency, where the pancreas does not have enough digestive enzymes to digest fat. There is a high risk for leukemia with 30% of patients developing it by adulthood and also causes a shortened median life expectancy of 35.

Episode Highlights: 

• Growing up with an ultra-rare disease
• Receiving a diagnosis after an extended diagnostic journey
• The role of genetic testing in finding answers
• Turning personal challenges into advocacy opportunities
• Advancing rare disease legislation in New Jersey
• Why youth voices matter in healthcare policy
• Living beyond a diagnosis and pursuing passions
• Balancing advocacy, education, horseback riding, and music
• Advice for young rare disease advocates

Resources Joyce Shared:

• Shwachman-Diamond Syndrome Foundation
• National Organization for Rare Disorders (NORD)
• Global Genes
• Rare Disease Legislative Advocates (RDLA)
• Genetic Alliance
• Cleveland Clinic: Shwachman-Diamond Syndrome Overview

#ShwachmanDiamondSyndrome #SDSAwareness #RareDiseaseCommunity #PatientAdvocacy #RareDiseaseAwareness #YouthAdvocacy #GeneticTesting #HealthcarePolicy #HopeForRare #RareButNotAlone

Season 5, Episode 18: In Conversation with Munira Shamim

I am excited to welcome Munira Shamim to the podcast! 🗣️🦓✨

→ About Munira:
Munira Shamim is the co-founder of Growing Stronger, a nonprofit organization dedicated to advancing research and improving care for individuals with achondroplasia, the most common form of dwarfism. A passionate advocate and mother of three, Munira’s journey into rare disease advocacy began when her son, Ahmin, was diagnosed as a baby with achondroplasia.

Since that diagnosis, Munira has become a vocal champion for involving families in the research process, building community-centered resources, and advocating for science that reflects the lived realities of people with rare conditions. From managing her son’s surgeries to enrolling him in one of the first clinical trials for children with achondroplasia, she brings a grounded and deeply personal perspective to every conversation.

In 2020, Munira and her husband launched Growing Stronger to create the kind of resource they wished had existed when Ahmin was first diagnosed. Through research, advocacy, and education, the organization aims to empower families and improve outcomes for those with achondroplasia. Growing Stronger has supported initiatives ranging from clinical trial awareness to day-to-day living tips for families navigating the complex care needs associated with the condition.

→ What is Achondroplasia?
Achondroplasia is a rare genetic bone condition caused by a mutation in the FGFR3 gene. It affects the way bones grow and develop—particularly in the limbs and spine—and can lead to significant health implications, including spinal compression, sleep apnea, short stature, and hearing issues, all of which can have a lasting impact.

→ Resources Munira Shared:
https://growingstronger.org
https://rarediseases.info.nih.gov/diseases/8173/achondroplasia
https://www.chop.edu/conditions-diseases/achondroplasia

#AchondroplasiaAwareness #RareDiseaseCommunity #DwarfismAdvocacy #GrowingStrongerTogether #GeneticResearch #RareDiseaseAwareness #PatientAdvocacy #StrongerTogether #HopeForRare #RareButNotAlone

⁠Season 5, Episode 17: In Conversation with Beatriz “Bia” Kaori Miyakoshi Lopes⁠

→ About Bia:

Bia Kaori is the first patient advocate for FDMAS in Latin America. Her journey in social media began recently, but it has already been a wild and impactful ride. Living with not one but two rare diseases, and with a master’s research background focused on accessibility and infrastructure, Bia is dedicated to sharing knowledge and striving to make the world a little better.

As the first patient advocate for FDMAS in and from Latin America, Bia recognizes the significant lack of answers, cures, information, and patient voices in the region. While FDMAS remains globally under-researched, the scarcity of resources in Latin America is even greater. At 28 years old, Bia was deeply moved upon finally meeting others with the same condition—an experience that required traveling to the United States.

An interview with the FDMAS Alliance to share her story served as a turning point, inspiring Bia to expand her advocacy through social media. There, she documents life with FDMAS by sharing personal experiences, limitations, struggles, and successes.

Today, Bia continues to use her platform to showcase everyday realities, break stigma around accessibility and rare diseases, and ensure that voices like hers are heard in Latin America and beyond.

→ What is Fibrous Dysplasia/McCune-Albright Syndrome?

Fibrous dysplasia (FD) is a rare disease in which normal bone is replaced with scar-like fibrous tissue. This condition can occur in any bone in the body and sometimes affects multiple bones. The most common sites are the bones of the skull and face—Bia has hers in her left palate, cheek, and eye bone.

Fibrous dysplasia can occur alone or as part of McCune-Albright Syndrome (MAS), in which the endocrine system and skin are also affected. These are two very rare, chronic diseases without a cure.

→ Resources Bia Shared:

@fdysplasiaorg on Instagra,

https://fdmasalliance.org

#RareDiseaseAwareness #FightForACure #RareButReal #InvisibleIllness #RareDiseaseCommunity #RareDiseasePodcasts #ListenToRareVoices #RareStories #RareDiseaseAwareness