Conferences, Conferences, Conferences! The MED13L Foundation has been busy! From attending Global Genes in Kansas City to presenting our Strategic Research Roadmap in Boston, and now planning the 2024 Virtual Research Meeting and 2025 In-Person Family and Research Meet-Up—there’s so much happening! Read on to learn about the exciting research readiness tools we discovered at these conferences and the opportunities for you to dive deeper into MED13L research and meet in person.
Flying to the 2022 MED13L Meetup
When I saw the opportunity for the 2022 MED13L Research and Family Meet-Up in Baltimore just a few months after my son's diagnosis, I was still processing the grief and shock. I had every reason and obstacle not to take my newly diagnosed 1.5-year-old on a plane across the country. But despite it all, I felt compelled to go. Having a child with a rare disease can feel isolating and lonely, but finding your community and meeting in person can truly change everything. Hearing about ongoing research gave me the courage to have hope. From sharing advice and stories to navigating grief, I left the conference with new friends, a new support system, and feeling a little less lost.
RARE-X: The Patient Journey to 100! We have researchers who want to publish!
Welcome to our families from around the World! Germany, Spain, Philippines, Puerto Rico, Chile, Australia, Brazil, Italy, UK, Canada and Kazakhstan are all on the map! Texas, California, Washington, Ohio - All showed up with multiple enrollees from the last report! Want to know how many in your state are enrolled? Contact us!
A brighter future, together.
HUGE news! We have an institution and genetic counselor interested in publishing RARE-X data!
Why does this matter? This is an opportunity for the largest complete collection of caregiver entered data for MED13L Syndrome in a publication! You are directly elevating the story of MED13L to clinicians and scientists!
What do you need to do? Enroll in RARE-X. Get a CRID for your child. Complete the following: 1) Upload your child’s genetic report 2) Complete the Head to Toe Survey+ any associated surveys. For instance, if you answer yes to eye issues, complete the survey where you report what kind of eye issues. The associated surveys appear in the Level 2 (L2) section. 3) Complete: ORCA, PELHS(if epilepsy), ABC, QI Disability, Vineland (take 2 nights), Children's Sleep Habits, Eating Survey, Medication and supplement survey. 4) Find the alternative ID section and enter your child’s CRID.
When? Please complete all by December 20th, 2024.
A big thank you to our amazing MED13L parent volunteers Michelle Limantour, Allyson Butler, Ana Fracolossi, Ann Archibald, Inon Shampanier, Yvonne Rajic, and Becca Wuest! These dedicated individuals have stepped up as regional ambassadors to guide you with any RARE-X questions. For support or guidance, email info@med13l.org with your location and your regional ambassador will follow up. We're here to help!
We’re excited to announce the MED13L Family & Research Meet-up from July 10th-12th! Connect with patients, families, researchers, and healthcare professionals as we share the latest developments and support in our MED13L community!
Pre-Register Now to:
Get priority access to updates
Be first to know when registration opens Receive early details on schedules & speakers.
No obligation to attend by pre-registering. We’re just gathering interest!
MED13L Foundation's Strategic Plan for a Cure
Thank you to MED13L family member Mikayla Visconti for presenting our poster, MED13L Foundation: A Patient Advocacy’s Strategic Plan for a Cure, at the Rosamund Stone Zander Translational Neuroscience Center 2024 Symposium. Click here to see our strategic research plan.
Community Spotlight
The Camachos' Journey with MED13L
We are a family of four. Eugenio is the youngest. We noticed a delay in his development at 12 months, since he does not walk, but through therapy he achieved it at 18 months. We started this path because he did not speak, and within two years and months the MED13L diagnosis arrived. Read more at Simons Searchlight.
Next month is our Giving Tuesday Fundraiser! We have so many exciting research and support initiatives for our MED13L community, but we need your help to make them happen. Keep an eye out for more details, and join us in making a difference!
The MED13L Conference 2025 is happening on July 11th & 12th in Boston, and we need your support to make it a success! Sponsorship opportunities start at $2,500 and include benefits like logos on event materials and social media promotion. Help us bring together families and researchers as we push forward in our mission to find a cure—email info@med13l.org for more details!
October is AAC Awareness Month
October is AAC Awareness Month, and we’re thrilled to spotlight a timeless resource in our community: Dana Nieder's blog, Uncommon Sense. Written by a fellow MED13L mom, Dana’s heartfelt reflections offer invaluable advice and insight that still resonate deeply today. Her early journey navigating AAC and advocating for her child serves as an empowering guide for families beginning—or continuing—their own path. Dive into her words and connect with the wisdom she shares.
Thank you to Rare Science for bringing joy to our community with their RARE Bears! Look at Andrew with his custom Spiderman RARE Bear, Christopher and his Starry RARE Bear, Ben with his bright, colorful RARE Bear, Lily and her Minnie Mouse-themed friend, and Maiya with her fun, uniquely designed bear. Each RARE Bear is lovingly handmade, one-of-a-kind, and crafted to match your child’s favorite colors and themes—all thanks to the incredible talent of the sewists. If you’ve received your RARE Bear, please share a photo on social media and tag us along with @Rare_Science to show our gratitude!
We are thrilled to celebrate Rachel Heilmann, PharmD, our Director of Research and Community Engagement, for her nomination for the Global Genes Rare Champion Award and for winning CombinedBrain’s first-ever RARE Resilience Award! Rachel’s dedication to the rare disease community, her leadership in advancing MED13L research, and her work founding the Rory Belle Foundation in honor of her daughter inspire us all. Congratulations Rachel on these remarkable achievements!
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We, as a community of MED13L parents [friends and family], must rise to the occasion and do everything we can to support the Foundation and help initiatives that promote research of MED13L syndrome. We owe it to our children.”
— Inon Shampanier (MED13L Parent & Foundation Board Member)
