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Iss rare disease journeImagine waking up every day knowing even a light touch could cause your skin to tear or blister. That’s the reality for children and adults living with Recessive Dystrophic Epidermolysis Bullosa (RDEB) — a severe rare genetic condition where skin and mucous membranes are extremely fragile. In this episode of Rare Connection, host Joanna speaks with Professor Mark Lowdell — Chief Scientific Officer & Co-Founder of INmune Bio and Professor of Cell & Tissue Therapy at University College London — about a promising cell therapy called CORDStrom™, developed for RDEB and currently progressing through clinical development.
GOSH Hospital site
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We discuss
🔹 What RDEB is and how it affects daily life and long-term health
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🔹 The science behind CORDStrom™ and its clinical trial results in pediatric RDEB patients
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🔹 What it means to prepare a Biologics License Application (BLA) submission to the FDA and future regulatory milestones
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🔹 The human stories behind the research and why this work matters for families living with rare disease

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📌 Join the Addaotuve Kitchen Facebook Group — for people navigating multiple diets and shared meal ideas. https://www.facebook.com/groups/13943332754051

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In this episode of Rare Connection, Joanna sits down with writer, photographer, paraeducator, and disability advocate Michelle Steiner to talk about life with dyscalculia, an often-misunderstood learning disability that affects number sense and math.

Michelle shares her journey from being told she “couldn’t” — couldn’t go to college, couldn’t get a degree, couldn’t get published — to proving every one of those predictions wrong. Today, Michelle is a published author on platforms including The Mighty, Dyscalculia Blog, The Reluctant Spoonie, and the Non-Verbal Learning Project. Her photography has been featured in Word Gathering and Work Ready, and she now works as a paraeducator supporting students with disabilities.

We discuss:
• What dyscalculia really is
• Early school struggles and the emotional impact
• Accommodations that help
• Advocacy, resilience, and overcoming doubt
• Michelle’s creative work and her passion for helping others
• The importance of understanding invisible disabilities

This is an empowering, heartfelt conversation for anyone living with a learning disability, parenting a neurodivergent child, or wanting to better support the disability community.

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please include the Rare Connection Facebook Group and The Adaptive Kitchen my Facebook group for people with multiple diets.

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Title (optional if you want one): Living with Dyscalculia: Michelle’s Story of Resilience & Advocacy

Description:
In this episode of Rare Connection, Joanna sits down with Michelle Steiner, a writer, photographer, paraeducator, and disability advocate who has lived her entire life with an invisible disability — dyscalculia, a learning disability that affects math, numbers, and spatial reasoning.

Michelle shares how she was repeatedly told what she couldn’t do:
➤ She’d never go to college.
➤ She’d never earn a degree.
➤ She’d never build the career she wanted.
➤ She’d never become a published writer.

She proved every one of those predictions wrong.

Today, Michelle holds a bachelor’s degree in Community Programming for Americans with Disabilities from Slippery Rock University. Her writing has appeared in The Mighty, Non-Verbal Learning Project, D

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In this powerful episode of Rare Connection, Joanna Ball speaks with Saida Mahoney — a beauty queen, author of nine books, athlete, performing artist, and National Rare Disease and Disability Advocate living with Partial Trisomy 8q Duplication Syndrome, an ultra-rare genetic condition.

Saida shares her journey growing up with neurological challenges and multiple types of epilepsy, including focal, grand mal, idiopathic, and absence seizures. Her story is one of resilience, faith, and advocacy — showing the world that rare disease and disability don’t define a person’s worth or strength.

💜 Topics Discussed:

• Living with Partial Trisomy 8q Duplication Syndrome
• Navigating life with epilepsy and neurological symptoms
• The importance of epilepsy awareness in the rare disease and IDD communities
• Finding identity and purpose through advocacy
• Using creativity, education, and pageantry to empower others

📚 Saida Mahoney’s eBooks on Wattpad

Explore Saida’s inspiring writing and advocacy through her online books:

• Overcoming the Challenges: The Journey of Becoming Strongerhttps://www.wattpad.com/story/394759652-overcoming-the-challenges-the-journey-of-becoming?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida

• The Blue and Gold Warrior Who Became Stronger and Wiser\https://www.wattpad.com/story/296241094-the-blue-and-gold-warrior-who-became-stronger-and?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
• The Golden Super Hero Who Fought The Battlehttps://www.wattpad.com/story/328033386-the-gold-superhero-who-fought-the-battles-won?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
• The Girl With Yhe Golden Braveheart Hearthttps://www.wattpad.com/story/323430217-the-girl-with-the-golden-braveheartutm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
• The Golden Brave Champion: Overcoming the https://www.wattpad.com/story/301998758-the-golden-brave-champion-overcoming-the?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
• The Superhero With The Blue Hearthttps://www.wattpad.com/story/307735090-the-superhero-with-the-blue-heart?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaThe Super Hero Dreamed And https://www.wattpad.com/story/277474638-the-super-hero-who-dreamed-and-persevere?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
• The Blue And Read

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In this episode of Rare Connection, I talk with Jillian Kavanagh, a nurse practitioner and parent to Ellie, who was diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS) at age 4. With only about 300 known cases worldwide, OCNDS is an ultra-rare genetic condition caused by variants in the CSNK2A1 gene.

Jillian shares the challenges of Ellie’s early epilepsy diagnosis, the long road to genetic testing, and how life changed after finally receiving answers. As a founding member of the CSNK2A1 Foundation, she is working to bridge the gap between the medical community and the families affected by OCNDS.

💡 What you’ll learn in this episode:

• What OCNDS is and how it’s diagnosed
• The struggles parents face navigating rare disease care
• Why genetic testing is critical — and often out of reach for many families
• How Jillian uses her professional and personal experience to advocate for change

🔗 Learn more about OCNDS: CSNK2A1 Foundation https://www.csnk2a1foundation.org/

👉 Don’t forget to subscribe to my channel Rare Chef for more episodes, cooking videos, and rare disease advocacy content. Comment below to share your thoughts, or use the “Send Me a Text” link in the audio show notes to connect directly.

Listen on: Apple Podcasts Spotify

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In this episode of Rare Connection, Joanna speaks with Liz, mother of Stephanie, about the ultra-rare IRF2BPL genetic disorder—also known as NEDAMSS—and the groundbreaking milestone of the first-ever IRF2BPL gene replacement therapy. We discuss what this means for the rare disease community, the hope it brings to families, and the path toward future treatments.

In the video version of this episode, you’ll also see a moving photo tribute of Stephanie’s life, highlighting both her journey and the determination of her family to push research forward.

Are you looking for something to lift a loved one that is not as big as a Hoyer Lift? Now their mechanical lifts that go on a track on the ceiling. Ask your state case manager if they will fund it? if not financial aid is available.

https://www.surehands.com/products/ceiling-track-rails

Resources & Links Mentioned:
📌 Read more about Elly’s groundbreaking treatment: https://ellysteam.org
📌 Sign up for Elly’s Team webinar updates: https://www.surveymonkey.com/r/IRF2BPL_webinar

Support & Connect:
💬 Comment below (video) or use the “Send Me a Text” link in the show notes (audio)
📺 Subscribe to our YouTube channel, Rare Chef
🔗 Follow Rare Connection on Facebook, X, and LinkedIn

Mental Health Support:
If you or someone you know is struggling, call or text 988 in the U.S. for 24/7 confidential help.

Chapter Markers

00:00 Intro

02:16 What is IRF2BPL (NEDAMSS)

05:37 How Long ago was the name change

08:49 Special Diet?

10:38 Treatment

15:07 Elly's path to gene therapy

19:40 Role of Weill Cornell in making gene therapy happen

22:20 Letter from the Krueger Family

26:05 Bring gene therapy from one patient to many

30:09 Get involved with Elly's team

31:54 Importance of Collaboration between researchers and families

32:19 What gives Liz the most hope?

34:01 Advice to other families waiting for a breakthrough in their child's condition

35:07 Many state Medicaid programs will pay for one piece of equipment per year.

36:16 Conclusion

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Imagine discovering that a life-saving treatment for your rare condition exists — but you can’t get it because it’s not available or affordable in your country. That’s the reality for countless families around the world.

In this global episode of Rare Connection, host Joanna Ball sits down with Aayush Goyal, founder of MedsPartner, a platform that helps patients legally access medications from other countries through the named patient import pathway.

We cover:
🔹 The rare disease drug access crisis across borders
🔹 How MedsPartner helps navigate regulatory challenges
🔹 The hidden legal system most doctors and patients don’t know about
🔹 Real stories of families who found hope when doors seemed closed
🔹 How advocates can spread the word about this life-saving option

🌍 Learn more about MedsPartner: https://www.medspartner.com
📝 Contact: connect@medspartner.com
📲 Follow: @medspartner on social media

🎙️ Listen to Rare Connection on Apple Podcasts, Spotify, Amazon Music & more
🎥 Watch more episodes here on the Rare Chef YouTube channel
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⚠️ Trigger Warning: This episode includes discussions about treatment barriers, health inequity, and medical frustration.

🆘 If you are in crisis or need emotional support:
📞 Call or text 988 in the U.S.
📱 Or text HOME to 741741 for the Crisis Text Line
You are not alone.

#RareDisease #GlobalHealth #MedsPartner #DrugAccess #NamedPatient #JoannaBall #RareConnectionPodcast

Chapter Markers

00:00 intro

01:57 What inspired Ayush to create Meds Partner?

04:21 How big is the drug access problem globally?

08:53 What conditions most people reach out about?

10:30 What is Named Patient Importation and how does it work?

14:39 Problems with doctors not knowing about the program

17:11 Risks and Misunderstandings

2048 Is a doctor allowed to prescribe a med that isn't available in their country?

22:01 Examples of impact on rare disease families

24:55 Which countries are the most challenging and which are getting it right?

26:26 biggest opportunities for policy change

29:25 Raising awareness for this access option

32:02 Hopes in terms of collaboration & support

34:03 current projects

35:17 Conclusion

Listen on: Apple Podcasts Spotify

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What’s the difference between palliative care and hospice? Why is palliative care still misunderstood—and how can it support people with cancer, rare diseases, and other serious conditions long before end-of-life?

In this powerful episode of Rare Connection, host Joanna Ball welcomes Ann, a licensed psychotherapist, breast cancer survivor, and caregiver to her husband who is living with metastatic prostate cancer. Anne is also the clinic manager and palliative care social worker for the Motion Picture Television Fund, where she supports members of the entertainment industry through emotional and practical challenges.

Together, they discuss:

What palliative care really means (and how it differs from hospice)

The emotional rollercoaster of becoming an “emerging caregiver”

Panic, anxiety, and anticipatory grief in the face of serious illness

How rare disease and cancer communities can benefit from early palliative support

Why storytelling and digital advocacy matter—on TikTok and beyond

📲 Follow Anne on TikTok: @annefrontlmft
🧠 Learn more about the Motion Picture Television Fund: https://mptf.com

💬 Comment below if this conversation resonates with you.
📩 Send me a text using the link in the show notes if you're listening to the audio version.

🔔 Don’t forget to subscribe to Rare Connection and my YouTube channel, Rare Chef, for more real conversations with rare disease warriors, caregivers, and medical professionals.
👍 Like | 💬 Comment | 📢 Share

Chapter Markers

00:00 Welcome
00:18 Today's Topic
00:35 Introducing Anne Front LFT
01:22 What is covered in this episode
01:36 Emotional content disclaimer
01:58 Anne's Journey
04:18 Anne's Cancer Diagnosis
05:19 Life During COVID
06:59 How Telehealth helps
07:42 Palliative Care Vs Hospice
11:32 Palliative Care has a full team
13:23 Misunderstanding palliative care
15:30 Benefits of palliative care for a condition that isn't terminal
00:18:00 Back and fourth between Hospice and palliative care
19:35 dealing with grief
23:37 Emerging Caregiver
4:56 Advanced directives
00:25:00 Maintaining Safety
00:25:45 caregiver support
26:32dealing with caregiver burnout & self care
27:37 support groups & hobbies
29:18 Keeping up with medical appointments
30:17 Asking for Help
32:56 Anne's Role at the Motion Picture Television Fund
34:38 Anne's TikTok Vlog
36:02 TikTok feedback
36:56 understanding Palliative care
38:38 Why it is important to talk about your feelings
39:02 Finding palliative care in your area
39:55 conclusion

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In this powerful episode of Rare Connection, host Joanna Ball sits down with special needs mom and author Keyundra, who shares the emotional and medical journey of her son Zaire — a child living with multiple rare conditions, including:

🫁 Laryngomalacia – a rare airway disorder
🦠 Neutropenia – a rare immune disorder
🧬 TNRC6B gene mutation syndrome – linked to autism, ADHD, global developmental delays, feeding challenges, and behavioral conditions like OCD, ODD, and bipolar disorder

Keyundra is the author of the children’s book Zaire’s Big Feeling About Feeding, which helps children and families talk about the emotional side of medical feeding challenges. In this interview, she opens up about parenting through uncertainty, advocating for her son’s needs, and writing her way through grief and growth.

👉 What You’ll Hear In This Episode:

How Zaire’s rare diagnoses unfolded

The daily impact of neutropenia and feeding difficulties

What TNRC6B gene mutations mean for development and behavior

How storytelling helps families cope and connect

Why World Airways Day (July 10) matters to this conversation

🔗 Resources Mentioned in This Episode:
📘 Zaire’s Big Feeling About Feeding – https://www.amazon.com/Zaires-Big-Fee...
🌐 Learn more about laryngomalacia: https://copingwithlm.org
🌐 Neutropenia support: https://neutropenianet.or🌐 TNRC6B info: https://rarediseases.info.nih.go👍 L

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