Hello Reader,
As we begin a new year, I am filled with optimism for what lies ahead for the MED13L community. January is a time for intention setting, reflecting on what we’ve built together, and preparing for the opportunities that will move us closer to meaningful therapies, stronger connections, and greater visibility for MED13L Syndrome.
February is especially important as we recognize Rare Disease Month. It is a powerful opportunity to spread awareness and continue building momentum through fundraising and community engagement. One of the easiest ways to get involved is by hosting a simple fundraiser at your child(ren)’s school. From dress-down or theme days to bake sales or classroom collections, these efforts matter and help introduce MED13L Syndrome to your community.
As you read this month’s highlights, I hope you feel the energy and progress building across our community. Thank you for continuing to show up for one another and for the future we are shaping together.
With gratitude,
January Highlights: Preparing for a Powerful Start to 2026
Wear It. Share It. 💙
February is Rare Disease Month, and one of the most powerful ways to spread awareness for MED13L Syndrome is simply by wearing it. MED13L Foundation gear sparks conversations, builds visibility, and reminds families they are seen and supported. Every hoodie, tee, and tote is more than apparel. It is advocacy in motion. All proceeds directly support the Foundation and the work ahead.
Use promo code WearItShareIt for 15% off and help turn awareness into action.
👉 Grab your MED13L gear and let everyone know you love someone with MED13L.
Wear Your Why. Love Someone with MED13L. 💙
Complete the MED13L Census 🌍
365 Stories. Every Day Counts.
Right now, only 64 individuals are enrolled in the MED13L Patient Census, and we know there are many more families than this number reflects.
Starting this month during Rare Disease Month and continuing through May, MED13L Awareness Month, we are working toward a bold goal: 365 stories.
Because MED13L matters every day of the year, not just 28 days in February. Every person counted strengthens our voice, advances research readiness, and helps ensure MED13L Syndrome is seen, understood, and prioritized.
👉 Complete the MED13L Patient Census today.
Welcoming Our New Chief Scientific Officer 🎉
The MED13L Foundation is proud to welcome Ricardo N. Ramirez, PhD, as our new Chief Scientific Officer.
Ricardo is a genome and data science leader with deep expertise in epigenetics, immunology, computational biology, and gene-editing. Trained at UC Irvine and Harvard Medical School, his work has contributed to major research consortia including ENCODE, STATegra, and ImmGen, as well as genomic safety and data science efforts in biotech.
As founder of RNR Consulting LLC, Ricardo has partnered with biotechs and nonprofits to advance drug discovery and multi-omic data integration, and he has been a strong advocate for patient-driven science through collaborations like COMBINEDBrain.
In his role with the MED13L Foundation, Ricardo will lead investigational research and preclinical strategy—bringing together families, clinicians, and researchers to accelerate meaningful therapies for individuals with MED13L Syndrome. We are excited for the impact his leadership will have on our community!
Community Connections: Supporting DEE Families 🎥
We’re excited to share an opportunity from DEE-P Connections, who are launching a national video project highlighting the everyday lives of families living with developmental and epileptic encephalopathies (DEEs).
They are currently recruiting families in Florida and Colorado to participate. These stories will help educate providers, support families, and strengthen advocacy across the DEE community.
👉 Interested families can apply here.
Road Full of Promise was a night for our MED13L community.🎸
On January 24, despite the bitter cold and wind chills well below zero outside, more than 500 people packed the room with warmth, energy, and an incredible show of love for our families. MED13L families traveled from across the country to stand together and were met with overwhelming support. The band rocked, the dance floor was full, and people gave all night long.
Together, we raised just over $375,000 – compared to $250,000 raised last year! These funds reflect belief in our children and confidence in this community. We cannot wait to show you how these funds will be used to improve the lives of those affected by MED13L Syndrome.
But this cannot be where it ends. Real progress requires all of us. We need more families to step in, raise their hands, share their stories, participate, and help shape what comes next. Every voice matters. Every family matters. And together, we are building something powerful.
Sibs & Stripes: Celebrating MED13L Siblings 💙🦓
Behind many with MED13L is a sibling with a story of their own.
Sibs & Stripes is our space to celebrate these incredible siblings and share the unique bonds they have with their brothers and sisters with MED13L. Through their words and photos, we highlight relationships shaped by empathy, adaptability, and compassion beyond their years. These stories remind us that advocacy and strength often begin at home.
We are currently accepting submissions and would love to feature more MED13L siblings from our community.
👉 To participate, please send:
- A short quote from your sibling or a 1-2 short paragraphs about them
- One or two photos or videos
- Submissions can be emailed to skhio@med13l.org
We are also continuing to explore the Sibling Internship Program for siblings ages 17 and older who want to turn their lived experience into meaningful impact. Opportunities may include science, research support, marketing and communications, graphic design, fundraising, advocacy, law, finance, and nonprofit leadership.
Help us shine a spotlight on the siblings who walk this journey alongside our MED13L kids and whose stories deserve to be seen and celebrated.
As we head into Rare Disease Month, thank you for being part of this growing, powerful community. Every action, big or small, helps move MED13L forward.
💙 Together, we make every MED13L story count.
In Case You Missed It:
Voices of MED13L Podcast
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