May is MED13L Awareness Month

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 vdias@med13l.org

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

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

📧 Reach the team: info@med13l.org 

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

Transcript

Vanessa Dias 0:00

MED13L Foundation Podcast MED13L Awareness Month Episode — Host Script (Vanessa) May 2026 Opening Welcome back to the Voices of MED13L, the official podcast of the MED13L Foundation. I'm Vanessa Dias the Vice Chair and parent of a child with MED13L and I’m so glad you're here with us as we are shining a brighter light this month on MED13L as May is MED13L Awareness Month. And May 13th is our official MED13L Awareness Day. If you're a parent of a child with MED13L, you already know this. You've probably been planning your social posts, ordering shirts, asking your family and friends to wear teal, telling your community what MED13L is and why it matters. Doing the quiet, exhausting work of trying to make a syndrome that almost no one has heard of feel a little bit more visible. So before I say anything else, I want to say thank you. Thank you for doing that work. Thank you for showing up here, listening to this podcast, telling your story, being part of a community that, by sheer numbers alone, has every reason to feel invisible. You are not invisible to us. Before I get into today's topic, I want to share a few quick housekeeping items, because they all matter and they all need you. First, our patient census which can be found on the home page or our website. If you have not yet joined the MED13L Foundation's patient census, please consider doing that this month. The registry is one of the most powerful tools we have for understanding our numbers and the incidence across the globe. We just rolled out a new form that lets you upload your child's genetic report directly into our HIPAA compliant drive when you sign up. And if you have already registered, you can simply email your genetic report to info@med13l.org and we will add it on our end. You may also be hearing from Suz Volpe by email over the coming weeks. She has raised her hand to help us gather genetic reports from across the community, because the more reports we have, the more we can start to understand whether there are clusters of similar mutations, what those clusters might mean for our kids, and where research needs to go next. Second, mark your calendars for June 13th in Philadelphia. The MED13L Foundation is participating in the Million Dollar Bike Ride, which is hosted by the University of Pennsylvania every year to raise awareness and funds for rare diseases. A Team for MED13L has been started and There are a few ways you can join us. You can donate to those already participation. You can join our team and fundraise in honor of your child and you can come to Philly and ride or walk with us. The day before the event, I am trying to coordinate a small family get-together for any families who are traveling in, so we can finally all be in a room together. And if Philly isn't possible for you, you can participate virtually from wherever you are. And third, for MED13L Awareness Month itself, we have built out an entire page on our website dedicated to it, which you can find under "Make an Impact" in the header menu. You'll find resources for raising awareness and fundraising, and you can download our official profile frame to use on your social channels. Everything is also in the Linktree in our Instagram bio if that's easier for you. Okay. With all of that said, let's get started with todays episode. __________ This Awareness Month, I think it is especially meaningful to take a few minutes to talk about something Katie and I have often talked about with each other, usually late at night, usually after our own kids are finally asleep, usually when we are tired enough to be honest. Awareness Month tends to point outward. We post, we share, we ask the wider world to see us. And we should. But this year, I want to also point inward and be honest with our own community about who this foundation actually is, how it actually runs, and just how wide the spectrum of families is that we are so desperately trying to represent with the limited time, energy, and resources the very few of us have to give. I don't spend a lot of time on Facebook. But when I do jump on, or when someone shares a post with me from our MED13L Foundation Facebook group, I keep seeing the same kind of thread. A parent shares something about their child. A symptom, a behavior, a challenge that feels strange or unique to them, and they wonder if anyone else has ever experienced it. And the replies come in. Me too. Me too. Us too. Yes, our son does that. Yes, our daughter has that. I love those threads. I love that families find each other inside them. But they also tell me something, which is that a growing part of our community may not yet fully appreciate just how wide the spectrum of MED13L really is. How much our children's stories overlap, and just as importantly, where they don't. So today I want to talk about the spectrum. The spectrum When most people hear the word spectrum in the context of a disability, they think of autism. And that makes sense. Autism awareness has done an extraordinary job of teaching the general public that no two children on the spectrum present the same way. That if you've met one child with autism, you've met one child with autism. But that idea, that spectrum idea, doesn't belong only to autism. It is true of almost every developmental disability and rare disease, and it is absolutely true of MED13L. Our children share a diagnosis. They share some of the same broad features. Developmental delay. Intellectual disability. Hypotonia for many. Speech delay for most. Because of a change on the same little stretch of DNA. But beyond those shared features, the variation is enormous. Some children with MED13L are born with congenital heart defects. Most aren't, but some are, and those families walk a road the rest of us don't fully understand. Open heart surgery in the first weeks of life. Cardiology appointments stacked on top of every other appointment. A whole layer of fear we haven't carried. Some of our children have seizures. Some have had them since infancy. Some developed them later. Some have never had a single one. Two children with the same diagnosis can have completely different relationships to epilepsy. Some of our children walk close to typical developmental timelines, just a little later than their peers. Some learn to walk at three or four. Some use walkers. Some use wheelchairs. Some rely on full mobility support throughout their lives. The fact that one child with MED13L is running on a playground does not mean another child with MED13L isn't working incredibly hard to take one supported step. And communication. This is one of the places we see the widest range of all. Some children with MED13L develop a level of functional speech. They can tell you they're hungry, they can name their favorite show, they can string sentences together. Some have a small handful of words. Some have no spoken language at all and communicate through gestures, through PECS, through eye gaze, through AAC devices. Every one of those is real communication. Every one of those takes years of therapy and patience and love to build. This is what I mean when I talk about the spectrum. And this is exactly why those "me too" threads on Facebook matter so much, because every single one of those replies is a piece of evidence that what your child is experiencing is more common than you thought. That you are not alone. That MED13L has a wider face than any single child's presentation can show. But I want to ask you for something, and I am asking because Katie and I have talked about this so many times. Those "me too" replies are precious, but they live and die on Facebook. They aren't being captured anywhere a researcher can find them. They aren't being added to the registry. They aren't reaching the scientists who are trying to understand what MED13L actually does to our children's bodies and brains. So please, when you notice that your child has a symptom or a challenge that you haven't seen on any of our surveys, don't just report it on Facebook. Email Katie and me at info@med13l.org. Did you know that it is Katie who reads almost every one of those emails, and then forwards them to me, or to one of our regional ambassadors, who are also fellow MED13L parents living similar struggles, doing their part to create connection for the families who live near them or who speak the same language. Let us know. We don't have time to read every post and every reply on social media, but we do our best to read every single email. The spectrum of families That's the medical and developmental side. But the spectrum is wider than that, because every family living with MED13L is also living their own circumstances. Some of our children have siblings. Some are only children. Some families have grandparents nearby who help every single week. Some families are doing this completely alone in a town where no one has ever heard of MED13L. Some families have insurance that covers a generous number of therapy hours. Some are fighting their insurance company for the minimum. Some live in a state with strong early intervention services. Some live somewhere those services barely exist. So when you hear another MED13L family's story, and your first thought is, our experience looks nothing like that, I want you to know that you are not failing as a parent. That family is not doing it better than you. They are doing it differently than you, because their child is different, their resources are different, and their starting point is different. Two MED13L families can sit in the same conference room, hear the same diagnosis described, and be living almost completely different lives. Whose stories we've been telling I want to be honest about something else. If you've been listening to this podcast since the beginning, you may have noticed that the families we've featured so far skew toward a certain kind of story. Many of the children we've highlighted are walking. Many are talking, even if not in full sentences. Many are in school. Many are, by the measures we usually use, doing relatively well. That is not because those are the only stories that exist in our community. They aren't. Not even close. It is because those are the families who have come forward. Those are the families with the bandwidth this season to sit down for an interview, who felt ready to share publicly, who weren't in the middle of a hospital stay or a medication change or a new diagnosis layered on top of MED13L. If you are a parent whose child is more medically complex, if your child has seizures that don't respond to the usual medications, if your child is non-ambulatory, if your child has feeding tubes or trachs or surgical histories that feel like another full-time job, your story is missing from this podcast. And it shouldn't be. If you are a parent of an older child with MED13L, a teenager, a young adult, someone who has lived through the school years and the puberty years and the transition years that the rest of us haven't reached yet, your story is missing from this podcast. And it shouldn't be. We need you. Not because your story is more important than anyone else's, but because the spectrum is incomplete without it. Newer families are looking for hope, yes, but they are also looking for the truth. They are looking for someone who has been where they are going. If you have ever thought, the foundation doesn't really represent families like mine, I want to gently say back: that is because we haven't heard from families like yours yet. We can't reflect what isn't shared with us. Please, if any of this is sitting with you right now, reach out. Tell us your story. We will hold it carefully. The truth about the foundation Which brings me to the part of this episode I have been turning over in my head the longest. We have heard the feedback. We have heard that the foundation could do more. That the website could have more resources. That there should be more programming, more connection, more responsiveness. Every one of us reads that feedback and feels it, because we want all of those things too. I want to address a misconception out loud. When most people hear the word foundation, they picture an organization. They picture an office. They picture staff. They picture a board of professional nonprofit people somewhere in a conference room, making decisions about a community they don't really belong to. That is not what the MED13L Foundation is. The MED13L Foundation is a handful of parents. Mostly mothers. Volunteers. We have full-time jobs with multiple children, One of those children is a child with MED13L, with the same packed therapy & doctor’s schedule you have, also living with the same heartbreaks, the same small daily victories, the same nights of lying awake worrying about the future. Every board member, with one exception, is a parent of a child with MED13L. The one board member who isn't a parent is here because of her connection as a friend of a family living this life. There is no army behind us. There is no team of staffers. The website you visit, the resources you download, the newsletters that arrive in your inbox, the awareness campaigns you see, the research outreach, the fundraising, the patient registry conversations, the advocacy work. Almost all of that, on any given week, is being carried by a very small number of people. Sometimes the whole weight of building and updating this organization falls on just a few pairs of hands. People getting up early, staying up late, answering emails between therapy pickups. I'll be honest with you. As I record this episode, I am already thinking about when I am going to edit it. The answer is, later this evening, while my daughter is at aquatic therapy with her occupational therapist. That is when a lot of this work gets done. In the hour my child is in the pool. In the hour I am sitting in a waiting room. After my other kids are asleep. Before they wake up. I am telling you this not to ask for sympathy. I am telling you this because I think our community deserves to know what is actually happening behind the scenes. The part I don't usually say out loud There is something else I want to share with you, and I have thought a lot about whether to say it on a podcast. I want to say it, because I think honesty is the only way any of this gets better. There have been many nights, more than I can count, when I have wanted to step away from this foundation. Not because I don't love this community. I do. Not because I don't believe in the work. I do. But because the work is so much, and it never slows down, and there is always more, and at some point my body and my heart just say to me, you cannot keep doing this at this pace. Most of those nights happen the way you would imagine. The kids are finally asleep. I should be asleep too. I am answering one more email or fixing one more thing on the website or trying to make sense of one more piece of research, and I think, why am I still doing this. There are only so many of us. Why doesn't someone else carry this for a little while. I am sharing that with you because I want you to know that the people running this foundation are not above the exhaustion. We are inside it. And I want to say something about that, carefully, because I do not want what I am about to say to come out as blame. That is not how I mean it. Over the years, a lot of beautiful, generous people have come into this foundation wanting to help. We are so grateful for that. Every single time. But sometimes, the reality of how much work this actually is meets a person, and they realize they did not expect it to be quite this heavy, and they step back. And that is understandable. We are all stretched. This work is heavier than it looks from the outside. What I have learned over the years is that the most useful thing a community member can do is not always to come to us and ask, what do you need from me. I know how counterintuitive that sounds, because that question is generous and it is offered in love. But for those of us already running on empty, sitting down to scope a project, design the structure, define the deliverable, that itself is a full-time job. The most powerful thing anyone in this community can do is to come to us and say, here is what I see is missing for families like mine, here is what I've started, here is what I am willing to take on, will you let me run with this. That kind of ownership changes what this foundation is capable of. So why am I still here. Why are we still here. A few of us are still here. Not because the work has gotten easier. It has not. We are still here because we cannot bring ourselves to give up on this. Not for my daughter. Not for the other members of this foundation’s children and definitely Not for your child. I know my exhaustion, balancing this work with my other job and my three kids, is shared by Katie and the other volunteers.. They have their own story, and I'll let them tell it in their own time and in their own words. I'll just speak to mine. We are still here because we believe these kids deserve a future that science can give them, and somebody has to do the work that puts that future in reach. So we keep going. Learning together And there is something else I want to be honest about. Most of us on this board are not scientists. We are not researchers. We do not have backgrounds in genetics or drug development or clinical trials. We were parents first, and the day we got our children's diagnoses, we had to start learning a language none of us were trained in. We are still learning it. We are learning for our kids, and we are learning for yours. That is why one of the most important steps we have taken as a foundation has been hiring a Chief Scientific Officer. Someone whose entire job is to do what most of us cannot do on our own. To read the papers. To understand the molecular pathways. To talk to researchers and pharmaceutical companies and regulators in their own language. To help us see what is possible for our children, what is being explored right now, and where we should be putting our limited resources. We did that because we knew our love for our kids was not, on its own, going to crack the science. We needed expertise. We needed someone whose every working hour is dedicated to MED13L research and therapeutic possibility. And now we have that. It is one of the things I am proudest of as a board, because it is a real, structural step toward the future we want for our kids and for yours. Thank you, and the ask Before I close, I want to take a moment to thank you. Every single one of you who has donated, run a fundraiser, asked a friend to give, posted a link, shared one of our campaigns. Every dollar matters. Every dollar funds the research and the resources our kids need. I want you to hear me when I say this. I am a volunteer. Katie is a volunteer. Every member of this board is a volunteer. Not one of us takes a salary from the foundation. Every dollar you raise, every dollar you give, goes back out to research and to building the resources this community needs to live this life a little better. Please keep doing what you are doing. It is making a difference even when you can't see it. And here is what I want to ask of you this MED13L Awareness Month. First, please give us grace. The people running this foundation are not strangers to your life. We are living a version of your life. We are also tired. We are also stretched. We are also showing up to IEP meetings and therapy sessions and specialist appointments, and we are doing this work in between. Second, if you have ever felt that the foundation is missing something, that there is a resource that should exist, that there is a topic that should be covered, that there is a need not being met, I want to invite you to do something different with that feeling. Instead of turning outward in frustration, turn toward us. Send us the draft. Send us the idea. Send us the outline of the thing you wish existed. Don't wait for us to assign it to you. Don't wait for us to scope it for you. Pick the thing you wish was already there, build a first version of it, and bring it to us. We will meet you there. Because that is the truth of how this community actually grows. Not because a board of people you do not know decided what you needed. Because parents like you stepped in and said, this is what I would have wanted when we got our diagnosis, let's make it. Closing So this May. This MED13L Awareness Month. This MED13L Awareness Day on the 13th. Yes, please post. Please wear teal. Please tell your neighbors and your child's teacher and your in-laws what MED13L is one more time. That outward awareness work matters. But I am also asking us, as a community, to turn the spotlight inward. To recognize that the families running this foundation are not separate from you. They are you. To recognize that a small group of people cannot represent the full spectrum of MED13L on their own, and that we need the medically complex families, the older families, the rural families, the families whose journey looks nothing like the stories we've told so far, to come forward and tell us what your experience has been. If every family pitched in a little bit, even a little bit, we would understand this syndrome faster. We would find therapeutics faster. We would build the resources our kids deserve faster. Every single one of our kids would benefit from that. Yours and mine. We are not trying to do this alone. We actually can't. So please, this month, lean in. We need you. Thank you for listening, and Happy MED13L Awareness Month.