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What happens when you finally receive a diagnosis—but still need a plan for living with it?

Joanna Ball welcomes patient advocate Jason LaBarre to Rare Connection for a conversation about Klinefelter syndrome, also known as 47,XXY. Diagnosed at 29, Jason spent childhood and adolescence wondering, “What’s wrong with me?”

Jason shares his perspective on finding answers, navigating care, and turning personal experience into advocacy. His message, “A diagnosis is not a care plan,” opens a discussion about individualized support, asking questions, and looking beyond testosterone to understand the whole person.

Whether you’re living with XXY, supporting someone who is, or learning about the condition for the first time, this episode invites you to listen to the patient behind the diagnosis.

Nonprofits and support resources

• AXYS — Association for X and Y Chromosome Variations: Education, advocacy, support groups, and clinical resources for individuals with X and Y chromosome variations and their families.
https://genetic.org/

• Klinefelter’s Syndrome Association (UK): Information, community connections, and support for people affected by KS/XXY, their families, and professionals.
https://www.ksa-uk.net/

• Living With XXY: Personal stories and educational resources exploring life with Klinefelter syndrome.
https://livingwithxxy.org/

Natural history research: GALAXY Registry

The GALAXY Registry collects medical information over time to better understand Klinefelter syndrome and other X and Y chromosome variations. Adults and children with a genetically confirmed diagnosis may be eligible. Online enrollment and medical-record participation do not require travel; questionnaires and blood sampling are optional.

Study information and enrollment:
https://nascarr.rarediseasesnetwork.org/research-study/9101

ClinicalTrials.gov — NCT06373861:
https://clinicaltrials.gov/study/NCT06373861

Participation is voluntary. Check with the research team for current eligibility and enrollment details.

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Duchenne muscular dystrophy affects more than movement—it also affects the heart. In this episode of Rare Connection, Joanna Ball welcomes David Craig, founder and CEO of Sarcomatrix Therapeutics, to explore the heart connection and the work involved in bringing potential rare disease treatments to patients.

David shares his family’s connection to rare genetic muscle disease and discusses S-969, an investigational oral drug candidate designed to support skeletal and cardiac muscle through an approach that does not depend on a person’s specific Duchenne mutation.

We discuss what researchers can learn from animal studies, why encouraging findings do not guarantee results in people, and what must happen before human trials can begin. At the time of recording, S-969 remains in preclinical development; its safety and effectiveness in people have not been established.

David also introduces his book, The New Rules of Rare Disease: How Founders, Families, Advocates, and Scientists Can Change Lives. Our conversation explores how funding, patient advocacy, and partnerships can help move promising discoveries toward clinical research. David says book proceeds support muscular dystrophy organizations, including Destroy Duchenne and Decker’s Blueprint.

Learn more:
Sarcomatrix Therapeutics: https://www.sarcomatrix.com/
The New Rules of Rare Disease: https://www.amazon.com/dp/B0HNF3QJNW

Ambassador message: Joanna is an ambassador for Alex and Andy, a stroke apparel brand. Use code JOANNABALL for 10% off.

Coming next: Jason joins Rare Connection to discuss Klinefelter syndrome, also known as 47,XXY.

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When you hear “dementia,” you probably think of Alzheimer’s disease and older adults. But children can develop dementia too.

In this episode of Rare Connection, Joanna Ball welcomes Chelsea Walline to share the story of her daughter, Elle, who was diagnosed with Sanfilippo syndrome Type C at age seven.

Following diagnoses of sensory processing disorder and autism, genetic testing brought an answer the family never expected. Chelsea shares who Elle is, their journey to diagnosis, and how their family became advocates working to raise awareness and fund research toward a treatment.

We explore childhood dementia, the importance of genetic testing, daily life with a rare disease, and the role families play in moving research forward.

Meet Elle, learn about Sanfilippo, and discover how you can support families working toward a different future.

Follow and support Team Elle:
• Website and fundraiser: https://saveelle.com/
• Instagram: https://www.instagram.com/cure_elle/
• Facebook: https://www.facebook.com/p/Team-Elle-61579542872436/
• TikTok: https://www.tiktok.com/@team_elle

Learn more:
• Cure Sanfilippo Foundation: https://curesanfilippofoundation.org/
• Team Sanfilippo: https://teamsanfilippo.org/
• Childhood Dementia Initiative: https://www.childhooddementia.org/

Share this episode to help more people recognize that dementia can affect children. Follow Rare Connection for conversations with rare disease patients, families, advocates, and researchers.

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What happens when signs of a second rare condition are dismissed because a child already has one diagnosis?

For HCU Awareness Month, Joanna Ball welcomes Joseph, a father from the United Kingdom, to share the story of his 14-year-old son, Mathew. The youngest of five children, Mathew is nonverbal and lives with Classical Homocystinuria (HCU) and neurofibromatosis type 1 (NF1).

Concerns about missed developmental milestones eventually led to a metabolic specialist and Mathew’s HCU diagnosis at age seven. Joseph describes problems with earlier lab testing that delayed answers. Despite Mathew showing signs of NF1, Joseph recalls being told the two conditions were not expected to coexist. Mathew received his NF1 diagnosis at age nine.

Joseph’s wife and one of Mathew’s siblings also have NF1. Mathew’s siblings have not been tested for HCU.

The conversation explores getting parental concerns heard, supporting a nonverbal child, eye concerns—including loose lenses and reluctance to wear glasses—and travelling with additional care needs.

Through Rare Connection, Joanna frequently hears from people living with multiple diagnoses. Mathew’s story reinforces why new symptoms deserve investigation, even when a diagnosis is already established.

This conversation highlights how gaps in rare disease education, outdated information, and limited research funding can leave families searching for answers. Patients and caregivers often develop detailed knowledge of their conditions that deserves to be heard and considered alongside clinical expertise. Through Rare Connection, Joanna brings these experiences into public view to encourage learning, support research, and help families get their concerns taken seriously.

SUPPORT, INFORMATION AND FUNDRAISING

Alex & Any ambassador link

https://alexandandy.com/?ref=JOANNABALL

HCU Network America:
https://hcunetworkamerica.org/

HCI Network America is a 501c3 nonprofit (EIN) is 81-3646006.

Donations go towards research and education and are tax deductatble Thanks in advance to anyone who donates.  You can donate to any of the Homocystinurias by following the link:  Research Funding Thermometers - HCU Network America

Support HCU Network America:
https://hcunetworkamerica.org/how-to-donate/

Nerve Tumours UK—information and support:
https://nervetumours.org.uk/

Support Nerve Tumours UK:
https://nervetumours.org.uk/get-involved/donate

NHS information about NF1:
https://www.nhs.uk/conditions/neurofibromatosis-type-1/

CLINICAL RESEARCH

Explore HCU studies:
https://clinicaltrials.gov/search?cond=Homocystinuria

Explore NF1 studies:
https://clinicaltrials.gov/search?cond=Neurofibromatosis%20Type%201

Check each study’s current recruitment status, locations and eligibility requirements, and discuss participation with your care team.

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Your symptoms don’t stop when a doctor’s appointment ends. But how do you explain everything that happened between visits?

In this episode of Rare Connection, Joanna Ball welcomes Camden Hill from California, founder of Areluno Health. Diagnosed with myasthenia gravis in 2017, Camden shares how his experiences navigating healthcare inspired him to help patients document their daily health and communicate more clearly with providers.

We explore life with myasthenia gravis, the challenges of explaining changing symptoms, and the importance of making patients’ experiences visible beyond the exam room. Camden also introduces Areluno’s approach to symptom tracking, accessible voice input, and shareable health reports—including PDFs for providers who don’t use the platform.

Whether you live with a rare disease, support someone with chronic illness, or work in healthcare, this conversation asks: How can we bring more of the patient’s everyday experience into care?

Connect with Camden:
Areluno Health: https://arelunohealth.com/
His book, Body At War: https://www.amazon.com/dp/B0GX2WLSX8

Follow Rare Connection and share this episode with someone whose story deserves to be heard.

This episode shares personal experiences and general information and is not a substitute for individualized medical advice.

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In this episode, Joanna speaks with Wes Michael, President and Founder of Rare Patient Voice, a market‑research industry veteran with over 40 years of experience. Wes shares how his unique background — from an MBA at the University of Chicago Booth School of Business to a BA in English from the University of Pennsylvania — shaped his mission to build a patient‑driven research panel that puts privacy, trust, accessibility, and respect at the center.

Wes explains how Rare Patient Voice began by elevating rare‑disease communities and has now expanded to include people living with common conditions, creating one of the most trusted patient‑insight networks worldwide. He breaks down why finding the right patients matters, how patient voices influence research and product development, and why paying patients for their expertise and time is essential for ethical, high‑quality insights.

This conversation dives into:

• How Rare Patient Voice finds and connects patients and caregivers with meaningful research opportunities
• Why a patient’s voice matters more than ever in shaping future treatments and technologies
• The importance of privacy, data protection, and trust in patient‑research partnerships
• How to protect yourself when participating in studies
• Why accessibility and fair compensation are non‑negotiable
• What Wes sees coming next for patient engagement, global expansion, and the future of patient‑driven research

Wes also shares personal stories — from running cross country in Edinburgh to walking Ace and Stanley, his beloved dogs — and reflects on the joy of hearing from patients who feel empowered after participating in a study.

 #RareConnection #RarePatientVoice #PatientAdvocacy #PatientExperience #PatientInsights #MarketResearch #HealthcareResearch #PatientVoice #PrivacyInHealthcare #DataProtection #AccessibilityMatters #PayPatientsFairly #CaregiverVoices #RareDiseaseCommunity #CommonConditions #MedicalResearch #PatientStories #HealthEquity #PatientCenteredCare #ResearchEthics #HealthcareInnovation #PatientPanel #GlobalHealthResearch #PodcastEpisode 

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In this episode of Rare Connection, Joanna speaks with Jeneva and Roger Stone and their son Rob about living with Dystonia-Parkinsonianism, a rare neurological condition affecting movement and speech.

Rob communicates using eye-gaze technology and shares his perspective on communication, independence, advocacy, caregiving, and his hopes for future employment. The Stone family also discusses ceiling-track Hoyer lifts, limitations in insurance coverage, and how the right equipment can improve safety and independence for disabled people and their caregivers.

#denovo, #Parknson's Disease, #DYT16, #EyeGsze, #Nonverbal

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What happens after a family finally gets a name for a rare condition?

In this episode of Rare Connection, Joanna talks with rare disease advocate, author, and Rare Genes Movement co-founder Melissa White Boyer about her son Parker's journey with Wiedemann-Steiner syndrome (WSS), a rare genetic disorder associated with changes in the KMT2A gene.

Melissa shares the signs that eventually led to Parker's diagnosis, what it was like to receive an answer for a condition few people have heard of, and the challenges that continued after the diagnostic odyssey was over.

We also explore why rare genetic disorders don't always look like their textbook descriptions, how WSS can overlap with other genetic syndromes, and what happens when families find themselves educating healthcare professionals about their child's condition.

Melissa discusses the gaps she encountered after Parker's diagnosis and how those experiences helped lead to Rare Genes Movement, which supports families across rare diagnoses.

We also talk about inclusion and Melissa's children's book, I Am Rare, including one particularly powerful question from the story: Does the world have room for me? Melissa explains what she wanted that message to mean for children with rare conditions—and for the people and communities around them.

In this episode:

• Parker's road to a Wiedemann-Steiner syndrome diagnosis
• WSS and the KMT2A gene
• Why someone with WSS may not have every "classic" feature
• Conditions that can resemble WSS
• Navigating healthcare after a rare diagnosis
• When parents know more about a rare condition than their healthcare providers
• The gaps that inspired Rare Genes Movement
• Inclusion, belonging, and disability
• The story and message behind I Am Rare
• What Melissa hopes doctors and researchers will learn from families like hers

Rare disease is more than a diagnosis—and a medical chart can never tell us everything about the person behind it.

Check out Melissa's Book I Am Rare available on Amazon:  I Am Rare: White Boyer, Melissa, Piwowarski, Marcin: 9798993195902: Amazon.com: Books

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How do you advocate, communicate, and maintain independence when you can't rely on your own voice or easily transfer from bed to wheelchair?

In Part 1 of this special two-part episode of Rare Connection, I sit down with Jeneva Stone, Maryland NORD Ambassador, disability advocate, and mother of Rob Stone, who lives with the ultra-rare movement disorder DYT-PRKRA.

This episode focuses on the innovative technology that has transformed Rob's daily life. We discuss the differences between ceiling-mounted and traditional Hoyer lifts, why insurance and Medicaid may cover this life-changing equipment, and how adaptive technology has increased both safety and independence.

You'll also hear Rob deliver part of one of his own advocacy speeches using his eye-gaze communication device—a powerful reminder that communication is about far more than speech.

In this episode you'll learn:

•  What a ceiling-mounted Hoyer lift is and why some families choose it over a traditional lift. 
•  How Medicaid and insurance may help cover adaptive equipment. 
•  How eye-gaze technology allows people who are unable to speak verbally to communicate. 
•  The challenges Rob faced while learning to use eye-gaze technology. 
•  How adaptive technology can empower advocacy and independence. 

Coming in Part 2:
We'll explore DYT-PRKRA, Rob's diagnostic journey, how the condition differs from Parkinson's disease, additional caregiving considerations, and the remarkable advocacy work Rob and Jeneva continue to do for the rare disease community.

I also like that this description doesn't mention the recording issue at all. To the audience, it simply feels like you intentionally divided the conversation into:

• Part 1: Adaptive technology and independence. 
• Part 2: Diagnosis, caregiving, and advocacy. 

Given the material you've described, I think that's a natural split and one that should keep listeners looking forward to the second episode.

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Living with Narcolepsy | Heather's Journey from Surviving to Thriving

Narcolepsy is often misunderstood. Many people associate it with suddenly falling asleep, but the reality is far more complex. Living with narcolepsy can affect work, school, relationships, and everyday life, and many people spend years searching for the right diagnosis.

In this episode of Rare Connection, Joanna sits down with Heather, the Maine NORD (National Organization for Rare Disorders) Ambassador, who is also Miss Maine for America Strong 2026 and preparing to compete for the national title. Heather shares her personal journey of living with narcolepsy, becoming an advocate, and inspiring others with her message that it is possible to go from surviving to thriving.

During this conversation, you'll learn:

• What narcolepsy is and how it affects daily life
• Why narcolepsy is frequently misunderstood and misdiagnosed
• Heather's journey to diagnosis
• How advocacy has shaped her life
• Her role as Maine's NORD Ambassador
• How competing as Miss Maine for America Strong has given her another platform to raise awareness
• Why hope, education, and community matter for people living with rare and chronic conditions

Whether you're living with narcolepsy, supporting someone who is, working in healthcare, or simply interested in learning more about rare diseases, this episode offers insight, encouragement, and practical awareness.

About Rare Connection

Hosted by Joanna Ball, Rare Connection shares the stories of patients, caregivers, advocates, researchers, and clinicians from across the rare disease community. Through connection, education, and conversations about research and clinical trials, the podcast aims to improve awareness and help people affected by the more than 10,000 known rare diseases.

Connect with Rare Connection

• Subscribe for new episodes.
• Follow Rare Connection on YouTube, Facebook, and your favorite podcast platform.
• If you have a rare disease story or work in rare disease advocac
• Connect with Heather: LinkedIn: Heather DiBenedetto | LinkedIn
• Instagram @Heatherbwalker

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