The Voices of MED13L

In this episode of Voices of MED13L, we return to our Growing Up with MED13L series with life at age 34. Host Inon Shampanier, a MED13L parent and board member, talks with Maria Remillard about her daughter Katie.

Maria describes Katie’s life today: a social young woman who loves music, being around people, and getting out in her community with a steady group of friends. Katie is non-verbal and uses a wheelchair, and Maria shares how she communicates through expression, sound, and eye gaze, and how well her family and caregivers understand her.

Maria also walks through their long road to a diagnosis. For years Katie was understood to have a mitochondrial disease, and the MED13L answer did not come until she was 23, when she was only the tenth person diagnosed in the United States. Drawing on the decade she spent running a nonprofit for mitochondrial disease, Maria offers hard-won perspective for other families: be your child’s advocate, lean on your community, look after your own health as a caregiver, and plan ahead with a special needs trust.

Growing Up with MED13L follows our kids through the ages and stages that shape who they become. The Voices of MED13L is a podcast from the MED13L Foundation. Learn more at med13l.org.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

In this first Sibling Takeover episode, host Christian Dias hands the microphone to Tenley, age eleven, whose older sister Addie has MED13L syndrome. Christian's own sister, Elle, has MED13L too.

The Sibling Takeover series gives the brothers and sisters of people with MED13L a chance to share the journey in their own words. Christian and Tenley trade stories about growing up alongside a sibling with MED13L. They talk about the games they play together, like backyard volleyball and Uno, and about Addie's big personality. Tenley describes the patience it takes when a sister communicates more slowly. She shares what she has taught Addie, and what Addie has taught her in return: to listen more closely, to be less quick to judge, and to feel more like herself.

The two also talk about what they wish other kids their age understood about siblings like Addie and Elle.

The Voices of MED13L is a podcast from the MED13L Foundation. To learn more about MED13L syndrome and the Foundation's work, visit med13l.org.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

In this episode of Growing Up With MED13L, we go back to the very beginning with Belen Fernandez Crespo, mother to 18-year-old Nacho, joining us from Spain.

Belen knew something was different when Nacho was still a baby, long before anyone would listen. He went undiagnosed for eleven years, and when the name MED13L finally arrived, it brought her something unexpected: relief. In this honest and moving conversation, she shares what those early years were really like, from a little boy who was "locked in his body" and could not point, nod, or shake his head, to the small, hard-won moments that changed everything. She talks about the therapies that helped and the ones that were nothing more than false hope, the optician who finally gave Nacho glasses and opened up the world to him, and the communication device he now uses to build sentences of his own.

Nacho is loving and charming, quick to greet you with a hug and a kiss on the cheek. He adores his books, his toys, and climbing steep trails with the parents who go at his pace and never rush him. Belen is just as honest about the uncertainty of what comes next as Nacho ages out of school, and about the fear she carried on her own for far too long. Her advice to other families is simple and hard-earned: never give up, hold on to the small victories, and do not keep your pain to yourself.

Wherever you are in your own MED13L story, we hope you feel a little less alone after spending this time with Belen and Nacho.

Sign up for our newsletter, fill out the family census at med13l.org, and catch up on any surveys waiting for you. When you are rare, everyone counts, and every family's voice helps move research forward.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

In this special research update episode of Voices of MED13L, Rowan Dias opens with reflections from the World Orphan Drug Congress and the MED13L Foundation’s first year participating in the Million Dollar Bike Ride before introducing a recorded community update with Dr. Ricardo Ramirez, Chief Scientific Officer of The MED13L Foundation.

Dr. Ramirez walks families through the Foundation’s current research priorities, including natural history studies, adult outcomes, community surveys, biomarkers, drug repurposing, gene therapy, and the path toward future observational studies. He also addresses questions from the MED13L community about speech development, treatment timing, variant types, long-term care, sleep, the gut-brain connection, and how families can participate in research.

This episode offers an accessible overview of where MED13L research stands today, why community participation matters, and how the Foundation is working to move science forward with urgency, safety, and the voices of families at the center.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

An Honest Look at MED13L, Our Community, and the Foundation Behind It

MED13L Awareness Month Special | May 2026

This Awareness Month, host Vanessa Dias gets honest — about the spectrum of MED13L, the families the foundation hasn't yet heard from, and what it actually looks like to run a rare disease foundation as a volunteer parent doing the work between therapy drop-offs and bedtime.

She also pulls back the curtain on the foundation itself: a small group of volunteer parents, most of them mothers, all of them living a version of the same life you are — and what it would mean for the whole community to lean in just a little more.

In this episode:

• Updates on the patient census, genetic report uploads, and the Million Dollar Bike Ride in Philadelphia on June 13th
• Why those "me too" threads on Facebook need to make their way to the registry
• The full spectrum of MED13L — medically, developmentally, and across families
• An honest look at who runs this foundation and how the work actually gets done
• The hiring of a Chief Scientific Officer and what that means for research

Connect & Get Involved: 

Want to be featured on the podcast?  Or host your own episode?  Email [email protected]

🔬 Research opportunities: med13l.org/research-hub/join-med13l-research-opportunities 

📄 Latest publications: med13l.org/research-hub/publications 

📧 Reach the team: [email protected] 

🚴 Join the Million Dollar Bike Ride team: June 13th, Philadelphia 

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Growing Up with MED13L: Life at 14

In this episode of Voices of MED13L, we continue our Growing Up with MED13L series with an honest look at the teenage years. Host Vanessa Dias is joined by Chelsea and Vern Klassen, who share what life looks like today for their 14-year-old daughter, Caitlynn.

They offer a candid glimpse into Caitlynn’s world—from her communication journey with AAC and experiences in school to friendships, family dynamics, and increasing independence. Chelsea and Vern also speak openly about the realities of raising a teen with complex needs, including balancing support with autonomy, navigating puberty, and thinking ahead to the future—while celebrating the joy, personality, and strengths that define who Caitlynn is.

For families earlier in their MED13L journey, this episode provides something invaluable: perspective on what the teenage years can look like, along with reassurance and hope for the road ahead.

💬 In this episode, we discuss:

•  Communication challenges and breakthroughs with AAC 
•  School supports and learning in a modified curriculum 
•  Social development, friendships, and sibling relationships 
•  Independence in daily living and life skills 
•  Navigating puberty and healthcare decisions 
•  Long-term planning and redefining expectations 

💛 A powerful conversation about growth, grief, resilience, and the beauty of meeting your child exactly where they are.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

In this episode of Voices of MED13L, we continue our series Growing Up with MED13L with a powerful, in-depth look at the teenage years. Host Vanessa Dias is joined by fellow MED13L parent Michelle Seaver, who shares what life looks like for her 16-year-old daughter today — from communication and learning to socialization, independence, and daily routines.

Many families wonder what adolescence might hold for their child with MED13L. Michelle offers an honest and hopeful look at the realities of life at 16:

• How her daughter communicates and advocates for herself
• What school, friendships, and confidence look like
• Where she needs support — and where she shines
• How boarding school has helped her grow socially and academically
• What independence can look like for teens with MED13L
• Why progress is real, just on a different timeline

This conversation is grounded, encouraging, and deeply relatable for any family thinking about the road ahead. Michelle also shares insights on therapies, life skills, reading development, and the importance of community — along with a glimpse into future possibilities through programs like Riverview and beyond.

Growing Up with MED13L: Life at 16 is part of our ongoing series highlighting lived experiences across childhood and adolescence. For newly diagnosed families or anyone wondering what the future may look like, this episode offers reassurance, perspective, and real stories of growth.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Why the MIND Study Matters: Building Clinical Trial Readiness for MED13L

In this powerful and informative episode of Voices of MED13L, Vanessa sits down with Abigail Sveden, MS, CGC, a genetic counselor at the Boston Children's Hospital and member of the Rosamund Stone Zander Translational Neuroscience Center (TNC).

Together, they unpack the critical importance of the MIND Study — MED13L Syndrome Investigation of Natural History and Development — and what it means for families today and for the future of therapeutics.

🧬 What You'll Learn in This Episode:

• What translational neuroscience really means — and how lab discoveries move toward real-world treatments
• Why natural history studies are essential for clinical trial readiness
• How longitudinal data helps researchers understand development over time
• The role of neurobehavioral assessments (including the Vineland) in FDA-approved outcome measures
• Why standardized data collection is critical for future therapeutics
• New clinical observations emerging from the MED13L cohort
• How participation today helps prevent future families from facing a “Google search diagnosis”

Abigail shares how the TNC brings together experts in genetics, neurodevelopment, EEG, regulatory science, and basic research — all working toward one goal: improving outcomes for individuals with rare neurodevelopmental disorders like MED13L.

Vanessa also speaks candidly about the parent experience — the emotional weight of surveys, the importance of being heard, and why documenting your child’s story is one of the most powerful contributions you can make to the community.

📊 MIND Study Snapshot

• 🎯 Goal enrollment: 30 participants
• ✅ 27 fully enrolled
• 📈 24 have completed Year One components
• 🔁 Annual follow-up is critical for longitudinal data
• 📍 In-person visits at Boston Children’s Hospital prioritized (virtual options available)

Participation includes:

• Interview-style visits with the study team
• Neurobehavioral assessments
• Standardized questionnaires (including the Vineland)
• Medical record review
• Optional photo and biospecimen contribution

This data builds the foundation for:

• Clinical trial readiness
• FDA-accepted outcome measures
• Published research to educate physicians worldwide
• Future therapeutic development

💛 Why It Matters

Every story matters — especially in rare disease.

Participation helps:

• Define what MED13L looks like across the lifespan
• Identify patterns in development, seizures, puberty, motor differences, and more
• Inform physicians so families are no longer handed a Google printout
• Build the roadmap toward future treatments

Hope is built on data.
 Data is built by families.

🔬 Additional Research Opportunities

If the MIND Study is full, there are other ways to participate:

• MED13L Census (homepage of med13l.org)
• Simons Searchlight
• Rare-X
• Citizen Health (5-minute registration that helps collect medical records)

Links are available on the MED13L Foundation research page and below.

📩 Interested in the MIND Study?

To learn more or inquire about participation, contact:

Abigail Sveden, MS, CGC
📧 [email protected]

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Growing Up with MED13L: Life at 11 (with Anna Fracalossi)

Welcome back to The Voices of MED13L, the official podcast of the MED13L Foundation. I’m Inon Shampanier—dad to a child with MED13L and your host for today’s episode, as we continue our Growing Up with MED13L series, where families share what daily life looks like at different ages and stages.

In this episode, we’re joined by MED13L parent Anna Fracalossi, mom to Elisa (11). Anna shares their long diagnostic journey—first noticing developmental delays around six months, moving from Brazil to the United States, navigating years of therapies and specialist visits, and finally receiving an MED13L diagnosis through exome sequencing when Alisa was seven.

Anna then brings us into Alisa’s life today at age 11: her routines, therapies, and the joys she’s found through movement and community—swimming, tennis, and Miracle League baseball. We also talk candidly about behavioral rigidity, emotional regulation, and how ABA has helped Alisa build tools to communicate feelings, shorten the intensity of tantrums, and navigate frustration.

A highlight of the conversation is Alisa’s transition to middle school, where she participates in a more inclusive academic setting alongside typically developing peers—with thoughtful supports in place. Anna shares what that transition has looked like socially and academically, and why peer role models have mattered so much for Alisa’s growth and independence.

This episode is also filled with hope: Anna reflects on Alisa’s steady progress in communication (from no words to full sentences), her love of the arts—music, ballet, opera, and visual art—and the new developmental milestones of preteen life: growing independence, shifting interests, and emerging self-advocacy.

Above all, Anna offers a powerful message to families who are new to MED13L: be gentle with yourself, allow space for grief and change, and trust that over time you can rebuild expectations into something grounded in joy, connection

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...

Growing Up With MED13L: Life at Age 12

In this episode of The Voices of MED13L, we launch our new Growing Up With MED13L series with a powerful and honest conversation titled “Life at 12.” Host Vanessa is joined by fellow MED13L parent Katie Johnston, mom to Addie, a bright, confident 12-year-old living with MED13L syndrome.

Katie shares Addie’s journey to diagnosis at age nine and reflects on what life looks like today—academically, socially, emotionally, and at home. From navigating special education services and IEP advocacy, to communication challenges, puberty, independence, friendships, and sibling dynamics, this episode offers a real-world look at the joys and complexities of raising a preteen with MED13L.

Listeners will hear how receiving a diagnosis brought clarity, community, and renewed strength for advocacy, as well as practical insights on therapies, AAC use, school placement, routines, and fostering independence. Katie also speaks candidly about acceptance, hope, and what she envisions for Addie’s future.

This episode is especially meaningful for families wondering what the MED13L journey can look like beyond early childhood—and a reminder that while every child’s path is different, none of us walk it alone.

Support the show

Resources

Strides for Stripes: Move for Mito | Pledgestar campaign

Denver Mini-Conference: Get your tickets

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials

Community Enrollment Form

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Link Tree:  List of Resources

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med13lfou...