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This Rare Disease Awareness Month, I’m honored to share the extraordinary survival story of writer, performer, and patient advocate Taylor Coffman.

After giving birth to her daughter, Taylor experienced a catastrophic medical crisis now being reconsidered by experts as pregnancy-induced complement-mediated thrombotic microangiopathy — a name that more accurately reflects what happens when childbirth triggers uncontrolled complement activation and widespread clotting.

Historically, cases like Taylor’s were often labeled as “aHUS,” but many clinicians now believe that pregnancy-induced, complement-mediated clotting disorders represent a distinct subtype.
There is no single diagnostic test for this condition.
But there is lifesaving treatment — and early recognition is everything.

Taylor's story could truly help someone else survive.

Within hours of delivery, she developed systemic clotting, went into multi-organ failure, suffered a heart attack, and her kidneys shut down completely. She spent weeks near death in the ICU and required nine months of dialysis — yet she miraculously recovered without a transplant.

One moment she shares is unforgettable: lying in the ICU, convinced the rhythmic clicking of the dialysis machine was repeating, “live or die… live or die.” In that moment, she made the decision to fight.
Today, both she and her baby are alive.

In this episode, Taylor opens up about:
• How childbirth triggered a rare complement-mediated clotting disorder
• Why experts want to rename this condition for better recognition
• The challenges of diagnosing a condition with no definitive test
• ICU trauma, hallucinations, and the mental fight to survive
• Postpartum depression and the emotional reality of medical crisis
• Dialysis, recovery, and the miracle of kidney healing
• Motherhood, disability, identity, and rediscovering purpose
• The one question that helped save her life

Taylor’s journey is one of the most medically extraordinary stories we’ve ever shared on Rare Connection. It also carries a critical message for clinicians: if the name changes, early diagnosis may follow — and more patients could survive.

Content Notes

This episode includes discussion of postpartum depression, ICU trauma, and medical emergencies involving childbirth. Please take care while listening.

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This episode features Candace, who lives with spinal muscular atrophy (SMA), a rare genetic and progressive neuromuscular condition. Diagnosed at 18 months, she shared her early experiences growing up with SMA, including navigating mobility loss and accessibility barriers throughout childhood.

Candace talked about her early career in the entertainment industry and the challenges she faced as a disabled Black woman, eventually choosing to leave the industry for a more stable career in public service. She now serves as the Chief Equity Officer for California’s Department of Rehabilitation.

A lifelong advocate, Candace discussed her work in diversity, equity, inclusion, and accessibility, and the creation of her nonprofit, I Am Abled Inc., which supports young adults with disabilities transitioning into adulthood. She emphasized the importance of representation, community, and listening to patient experiences—especially for those living with progressive conditions like SMA.

Candace also offered advice for families newly diagnosed with SMA, encouraging unconditional love, education, and support while highlighting the need for medical providers to recognize the emotional aspects of disability.

Visit candiswelch.com for more information

Listen on: Apple Podcasts Spotify

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In honor of Rare Disease Awareness Month, this episode of Rare Connection explores one of the most urgent topics facing the rare and ultra-rare community: global access to clinical trials.

Families around the world often discover that the only realistic path to treatment lies outside traditional U.S. research routes. Trials can require millions of dollars before enrollment even begins, leaving many conditions with no way forward. But around the globe, there are regions where early-stage studies can move faster, more affordably, and with greater flexibility — if families know where to look.

Today’s guest, Julio Martínez-Clark, is the CEO of bioaccess®, Synapse Global Theranostics, and amavita Heart and Vascular Health®. He works across Latin America, the Balkans, and Australia to make clinical research possible for rare and ultra-rare conditions that might otherwise be left behind.

In this conversation, Julio breaks down:
• Why global trial sites can launch studies more quickly
• How families and nonprofits can explore international options
• What “trial acceleration” actually means
• Safety considerations and red flags when evaluating overseas opportunities
• How AI and new regulatory models are reshaping access to emerging therapies
• Why international collaboration will play a major role in the future of rare disease treatment

Whether you're navigating a diagnosis with no treatment, advocating for research, or supporting someone with a rare or ultra-rare condition, this episode offers hope, direction, and practical insight into global options many families don't know exist.

Follow Rare Connection on Facebook, X, and LinkedIn, and join our community Facebook groups: Rare Connection and The Adaptive Kitchen

If you or soneone you know is struggling pkdzsd call or text 988 or Text home to 741741 . Help is available 24/7

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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
MedlinePlus

🔹 The science behind CORDStrom™ and its clinical trial results in pediatric RDEB patients
inmunebio.com

🔹 What it means to prepare a Biologics License Application (BLA) submission to the FDA and future regulatory milestones
Patsnap Synapse

🔹 The human stories behind the research and why this work matters for families living with rare disease

💬 CONNECT & SHARE
📌 Subscribe to Rare Connection — hit the button so you never miss an episode!
👍 Like, Share & Comment — tell us what you thought or what you’d like to hear next!
📌 Join the Rare Connection Facebook Group — a supportive space for patients, caregivers, and advocates. https://www.facebook.com/groups/3802022513417876
📌 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.

🔗 Follow Rare Connection on social media
💬 Send Joanna a text (link in show notes)
❤️ Support the show
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If you or someone you know is in crisis, dial 988 or text HOME to 741741.

If you’d like, I can also create:
✅ YouTube description
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✅ Show notes
✅ A short intro you can read before hitting record
Just tell me!

You said:

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

ChatGPT said:

Absolutely — here is a polished Buzzsprout audio-only description that includes everything you requested: Michelle’s story, dyscalculia, Rare Connection FB Group, and The Adaptive Kitchen.

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, Dyscalculia Blog, The Reluctant Spoonie, Kalopina Collective, Imagine the World as One Magazine, and Word Gathering. Her photography has also been featured in Word Gathering Independent and Work Ready. She now works as a paraeducator supporting students with disabilities — work that allows her to give back and advocate for others facing similar challenges.

In this conversation, Michelle opens up about:
• What dyscalculia really is (and how misunderstood it often is)
• How it shaped her

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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 Angel: Battle Onhttps://www.wattpad.com/story/304782879-the-blue-and-red-angel-battle-on?utm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaida
• The Glden Angel Who Survived The Battleshttps://www.wattpad.com/story/293938115-the-golden-angel-who-survived-thebattlesutm_source=ios&utm_medium=link&utm_content=share_writing&wp_page=create&wp_uname=wondergirlsaidaSurviving: Made The Battle To Becoming https://www.wattpad.com/story/259234397-surviving-made-to-battle-and-becoming-resilient?utm_source=ios

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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.

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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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