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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.

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.

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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: [email protected]
 📲 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
🧡 Support the show: Buy Me a Coffee

⚠️ 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

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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.org
🌐 TNRC6B info: https://rarediseases.info.nih.gov

👍 Like this video
📲 Subscribe to my channel Rare Chef for more episodes, cooking videos, and rare disease stories
💬 Drop a comment to share your thoughts or support for Keyundra and Zaire
📩 Prefer to listen? Audio show available on all major podcast platforms
📱 Text me your thoughts or questions through the link in the show notes!

💙 Mental Health Resources
If you or someone you know is struggling, the 988 Suicide & Crisis Lifeline is here for you.
📞 Call or Text 988 | 💻 Chat at 

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In this episode of Rare Connection, host Joanna speaks with Stephanie from the EveryLife Foundation for Rare Diseases, who shares her journey living with Idiopathic Intracranial Hypertension (IIH)—a rare neurological disorder involving increased pressure around the brain with no detectable cause.

Stephanie opens up about the long path to diagnosis, the life-altering symptoms of IIH, and how she eventually accessed treatment through an off-label use of a GLP-1 weight loss drug—a medication not FDA-approved for IIH, but one that is showing promise in reducing spinal fluid pressure in patients. She discusses the immense challenge of navigating insurance to access this treatment and what others might expect if considering a similar path.

In addition to sharing her personal health story, Stephanie discusses her powerful work as the program manager of the Rare Artist Program and Rare Disease Scholarship Program at the EveryLife Foundation. These initiatives uplift voices in the rare disease space through creativity and education, offering platforms for patients and caregivers to thrive.

🎯 In This Episode:

• What it’s like to live with Idiopathic Intracranial Hypertension (IIH)
• The role of GLP-1 medications in off-label treatment of IIH
• The fight to get off-label treatments covered by insurance
• How art and advocacy helped Stephanie regain purpose
• Ways to get involved in the Rare Artist Program and Rare Disease Scholarship

🔗 Links & Resources:

• EveryLife Foundation: https://everylifefoundation.org
• Rare Artist Program: https://rareartist.org
• Rare Disease Scholarship: https://everylifefoundation.org/rare-scholarship
• More on GLP-1 drugs and IIH: https://pmc.ncbi.nlm.nih.gov/articles/PMC10151178/

💬 Join the Conversation:

• Leave a comment on YouTube
• Or send Joanna a text using the link in the show notes!

📱 Follow Rare Connection:

• Facebook: https://www.facebook.com/profile.php?id=100095564621062
• X (formerly Twitter): https://x.com/Rare_Connection
• LinkedIn: Rare Connection Inc.  

🛒 Support the Show:

• Grab Rare Chef merch: https://www.bonfire.com/invisible-disability-rare-disease-awareness/
• Or click the Support the Show link in your podcast app

📞 Mental Health & Crisis Support:
If you're struggling, you are not alone:

• Call the Suicide & Crisis Lifeline at 988
• Or text HELLO to 741741 to reach the Crisis Text Line

Chapter Markers

00:00 Intro
00:44 Medical disclaimer
00:56 Introducing Stephanie
01:52 diagnosis story
02:33 Right eye goes lazy
02:58 Doctor orders MRI
03:10 Stephanie passes out
03:35 Spinal Tap
05:08 Diamox prescribed
05:46 Learn

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In this powerful episode of Rare Connection, we meet Paul, the president of Cure CLCN6 and the father of Paxton, a young boy diagnosed with an ultra-rare visit mutation on the CLCN6 gene.

Paxton’s journey began with developmental delays and years of unanswered questions. After extensive genetic testing, his family finally received a diagnosis—one so rare that few doctors had even heard of it. Today, Paul is leading the charge to raise $1.5 million to fund a life-saving gene therapy that could offer Paxton a chance at a better future.

 Bisit cureclcn6.org for more information.  To donate click the following link to be taken to their Go Fund Me account.  https://www.gofundme.com/f/donate-to-fund-paxtons-critical-gene-therapy?attribution_id=sl:c0d715d3-a026-4505-8dfa-52ec45d605f6&utm_campaign=man_sharesheet_dash&utm_medium=customer&utm_source=copy_link  Cure CLCN6 is a recognized 501c3  

If you are interested in purchasing one of my t-shirts click the link below for my bonfire account.  https://www.bonfire.com/invisible-disability-rare-disease-awareness/

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In this episode of Rare Connection, host Joanna speaks with Regina, a sarcoidosis patient, author, and creative advocate who’s transforming her personal health journey into a source of awareness and empowerment.

After her sarcoidosis diagnosis, Regina launched UniquelySarc, a handmade earring line dedicated to raising sarcoidosis awareness. She is the author of To Hell with Sarcoidosis and Other Illnesses and actively supports the rare disease community by moderating the AnCan sarcoidosis support group and leading a creative writing class to help others process their own journeys.

This conversation explores the power of creativity, self-expression, and community support in navigating life with a rare disease.

✅ In This Episode, You’ll Learn:

• Regina’s personal journey to a sarcoidosis diagnosis
• How art and writing became part of her healing
• The mission behind UniquelySarc and her book
• Why peer support groups are essential
• How creative outlets can help rare disease patients find their voice

💬 Stay Connected:

• Subscribe to Rare Connection wherever you listen to podcasts
• Follow Rare Connection on Facebook, X, and LinkedIn
• Text me: Reach out directly using the link in the show notes
• Subscribe to my YouTube channel: Rare Chef

🧠 Listener Bonus:

There’s a quiz based on Regina’s answers available in the Community tab on YouTube and in the show notes—test your knowledge and keep the conversation going!

⚠️ Medical Disclaimer:

This podcast is for educational and awareness purposes only and should not be used as medical advice. Always consult your healthcare provider for your individual medical needs.

💛 Suicide Prevention Resources:

If you or someone you know is struggling:

• Call or text 988 for the Suicide & Crisis Lifeline
• Text “HELLO” to 741741 to reach the Crisis Text Line

You are not alone. Help is always available.

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In this special Rare Connection Live episode, host Joannal celebrates 2 years of amplifying rare voices by welcoming Serena, a rare disease advocate and parent from New Zealand.

Serena’s daughter lives with GLUT1 Deficiency Syndrome, a rare metabolic disorder that impairs glucose transport to the brain — leading to seizures and neurodevelopmental challenges. One of the most critical treatments? A clinically managed ketogenic diet, tailored specifically for medical use.

Together, we discuss:
 🧠 What GLUT1 Deficiency is and how it’s diagnosed
 🥣 How the medical ketogenic diet supports brain energy metabolism
🌍 Differences in access and support between New Zealand and the U.S.
🏫 Serena’s work supporting new families through Starship Hospital and advocating for rare children in schools
📜 The ongoing fight to pass the Medical Nutrition Equity Act in the U.S.

Whether you’re a clinician, parent, caregiver, or advocate — this episode offers critical insights into the lived experience and nutritional treatment of GLUT1 DS.

📌 Note: This conversation is for informational purposes only and should not be used as medical advice. Always consult a qualified healthcare provider.

🔗 Support the Show: [Insert support link]
📲 Follow Rare Connection on Facebook, X, and LinkedIn
🎧 Subscribe to the podcast and to Joanna’s YouTube channel, Rare Chef, for more rare disease stories 

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In this episode of Rare Connection, host Joanna sits down with Tami — a teacher, advocate, and mother of 7-year-old Jonathan, who lives with a rare ANK3-related disorder. Tami shares her family's diagnostic journey, how Jonathan's multiple conditions impact their daily life, and how she balances caregiving with her work in early childhood education.

We discuss:

• Jonathan’s rare disease diagnosis and overlapping conditions (including hypotonia, autism, ADHD, and more)
• The emotional and logistical challenges of raising a child with multiple complex needs
• Tami’s insights as a teacher working with children ages 6 weeks to 5 years old
• Feeding and nutrition struggles, sensory issues, and strategies that help
• The power of advocacy and community support
• Tami’s involvement with Wichita’s Littlest Heroes, Meaningful Life Foundation, and Challenge Games

Whether you're a parent, caregiver, educator, or rare disease advocate, this episode offers insight, encouragement, and practical wisdom.

🔗 Links & Resources

• Wichita’s Littlest Heroes: https://www.wichitaslittlestheroes.com
• Meaningful Life Foundation: https://www.meaningfullifefoundation.com
• Challenge Games: https://www.challengegames.org
• Join the Rare Connection Facebook Group: [Facebook Group Link]
• Support the Show: [Your Buzzsprout “Support the Show” link]
• Send Me a Text: [Your “Send Me a Text” link]

👕 Shop Awareness Merch

Check out the t-shirt I designed to raise awareness for invisible disabilities and rare diseases — available for worldwide shipping: [Bonfire merch link]

📱 Follow & Subscribe

• YouTube: Rare Chef
• Podcast: [Rare Connection]
• Facebook, X, LinkedIn: @RareConnection

🧠 Mental Health Support

If you or someone you know is struggling, call or text 988 for the Suicide & Crisis Lifeline — available 24/7 in the U.S.

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🧠 Mental health is rarely optional when you're living with a rare disease. Join Joanna, host of Rare Connection, for a powerful live conversation with Frank, a rare disease patient and mental health advocate who's working to make support more accessible for our community.

🌍 Living with sarcoidosis and other chronic conditions, Frank brings a deeply personal and professional perspective. He recently moderated a panel on mental health at the World Orphan Drug Congress USA and is now leading efforts to help rare disease patients find affordable, qualified mental health care providers.

📊 Did you know?

• 75% of rare disease patients report symptoms of anxiety
• Over 66% experience depression
• Many are bullied, misunderstood, or feel completely alone

🎧 In this live episode, we’ll explore:

• How rare diseases impact mental health
• Why so many patients feel dismissed or isolated
• What it will take to get emotional support to those who need it most
• How YOU can help push for mental health equity in rare care

💬 Ask questions live in the chat, and be part of this important conversation.

🔔 Subscribe to Rare Chef so you don’t miss the live broadcast or future episodes.

📌 Resources & links will be available in the video description after the stream.
📲 For audio listeners, check your show notes to send me a text or support the show.

📣 Let’s break the silence around rare disease and mental health. See you live!

#RareConnection #RareDisease #MentalHealthMatters #Sarcoidosis #RareChef #PatientAdvocacy #YouAreNotAlone

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