The MED13L Foundation
@med13lfoundation.bsky.social
Where data fuels discovery and every variant finds a voice — Every Story Matters.
Join us for a relaxed lunch with fellow MED13L families, Foundation staff, and researchers. It’s a wonderful opportunity to connect, share experiences, ask questions, and hear the latest updates from the #MED13L Foundation.
📍 Hudson Grille–Midtown, 942 Peachtree Street, Atlanta, GA 30309
📍 Hudson Grille–Midtown, 942 Peachtree Street, Atlanta, GA 30309
November 19, 2025 at 7:45 PM
Join us for a relaxed lunch with fellow MED13L families, Foundation staff, and researchers. It’s a wonderful opportunity to connect, share experiences, ask questions, and hear the latest updates from the #MED13L Foundation.
📍 Hudson Grille–Midtown, 942 Peachtree Street, Atlanta, GA 30309
📍 Hudson Grille–Midtown, 942 Peachtree Street, Atlanta, GA 30309
🗓️ Get ready to mingle with a select group of guests at the exclusive 2025 Rare Reception - it’s going to be a night to remember!
Come join us, along with COMBINEDBrain, Citizen Health, and more for an evening of networking, delicious food, and exciting conversations.
#MED13L #RareDisease
Come join us, along with COMBINEDBrain, Citizen Health, and more for an evening of networking, delicious food, and exciting conversations.
#MED13L #RareDisease
November 5, 2025 at 6:27 PM
🗓️ Get ready to mingle with a select group of guests at the exclusive 2025 Rare Reception - it’s going to be a night to remember!
Come join us, along with COMBINEDBrain, Citizen Health, and more for an evening of networking, delicious food, and exciting conversations.
#MED13L #RareDisease
Come join us, along with COMBINEDBrain, Citizen Health, and more for an evening of networking, delicious food, and exciting conversations.
#MED13L #RareDisease
They can’t talk…yet.
They can’t run or jump…yet.
We don’t have a cure…yet.
Time is on our side when we make every story count. Thank you to all families, caregivers, researchers, and doctors for contributing to every survey, donation, and research milestone.💙
#MED13L #MED13LSyndrome #RareDisease
They can’t run or jump…yet.
We don’t have a cure…yet.
Time is on our side when we make every story count. Thank you to all families, caregivers, researchers, and doctors for contributing to every survey, donation, and research milestone.💙
#MED13L #MED13LSyndrome #RareDisease
November 3, 2025 at 4:02 PM
They can’t talk…yet.
They can’t run or jump…yet.
We don’t have a cure…yet.
Time is on our side when we make every story count. Thank you to all families, caregivers, researchers, and doctors for contributing to every survey, donation, and research milestone.💙
#MED13L #MED13LSyndrome #RareDisease
They can’t run or jump…yet.
We don’t have a cure…yet.
Time is on our side when we make every story count. Thank you to all families, caregivers, researchers, and doctors for contributing to every survey, donation, and research milestone.💙
#MED13L #MED13LSyndrome #RareDisease
Today, we honor the incredible strength of children living with a neurological condition: and the families and caregivers who support them. 💙
October 29, 2025 at 11:14 PM
Today, we honor the incredible strength of children living with a neurological condition: and the families and caregivers who support them. 💙
AI Advocate (beta) helps families caring for rare conditions organize information, ask better questions, and better understand care decisions.
Sign up here: www.citizen.health/unlock!
#MED13L
Sign up here: www.citizen.health/unlock!
#MED13L
October 24, 2025 at 6:09 PM
AI Advocate (beta) helps families caring for rare conditions organize information, ask better questions, and better understand care decisions.
Sign up here: www.citizen.health/unlock!
#MED13L
Sign up here: www.citizen.health/unlock!
#MED13L
Mary Clare's life was further complicated by the absence of a genetic diagnosis. After her passing at 53, her sister, Anne, discovered #MED13L and recognized Mary in every symptom.
Today, we honor Mary Clare by sharing her story and advocating for genetic testing.
lnk.bio/med13lfounda...
Today, we honor Mary Clare by sharing her story and advocating for genetic testing.
lnk.bio/med13lfounda...
October 16, 2025 at 6:55 PM
Mary Clare's life was further complicated by the absence of a genetic diagnosis. After her passing at 53, her sister, Anne, discovered #MED13L and recognized Mary in every symptom.
Today, we honor Mary Clare by sharing her story and advocating for genetic testing.
lnk.bio/med13lfounda...
Today, we honor Mary Clare by sharing her story and advocating for genetic testing.
lnk.bio/med13lfounda...
This night of music + community will help support the Natural History Study at Boston Children’s Hospital — a huge step toward clinical trial readiness for #MED13L Syndrome. 💙
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
October 10, 2025 at 9:49 PM
This night of music + community will help support the Natural History Study at Boston Children’s Hospital — a huge step toward clinical trial readiness for #MED13L Syndrome. 💙
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
Tickets will be available soon! Every ticket leads to more hope, more research, and more progress.
Dr. Alicia Campbell shares what she’s seeing in the lab in her Drug Repurposing presentation (now live on YouTube from the 2025 MED13L Research & Family Conference).
Metformin, type 2 diabetes drug, could show promise for #MED13L Syndrome and has introduced the discussion around drug repurposing.
Metformin, type 2 diabetes drug, could show promise for #MED13L Syndrome and has introduced the discussion around drug repurposing.
October 8, 2025 at 5:46 PM
Dr. Alicia Campbell shares what she’s seeing in the lab in her Drug Repurposing presentation (now live on YouTube from the 2025 MED13L Research & Family Conference).
Metformin, type 2 diabetes drug, could show promise for #MED13L Syndrome and has introduced the discussion around drug repurposing.
Metformin, type 2 diabetes drug, could show promise for #MED13L Syndrome and has introduced the discussion around drug repurposing.
There is a critical gap in research: rare disease families fight hard to win ICD-10 codes, but too often those codes aren’t actually used in patient records.
Together, let’s make sure all the advocacy that brought us Q87.85 (#MED13L code) translates into real-world impact for our families. 💙
Together, let’s make sure all the advocacy that brought us Q87.85 (#MED13L code) translates into real-world impact for our families. 💙
October 2, 2025 at 6:39 PM
There is a critical gap in research: rare disease families fight hard to win ICD-10 codes, but too often those codes aren’t actually used in patient records.
Together, let’s make sure all the advocacy that brought us Q87.85 (#MED13L code) translates into real-world impact for our families. 💙
Together, let’s make sure all the advocacy that brought us Q87.85 (#MED13L code) translates into real-world impact for our families. 💙
Your child's data!
📬 If you’re signed up with Simons Searchlight, you may have received a Research Match email to join the ORCA Study.
This study could help determine whether it’s a meaningful way to measure communication ability in kids with rare neurodevelopmental disorders like #MED13L.
📬 If you’re signed up with Simons Searchlight, you may have received a Research Match email to join the ORCA Study.
This study could help determine whether it’s a meaningful way to measure communication ability in kids with rare neurodevelopmental disorders like #MED13L.
September 24, 2025 at 6:31 PM
Your child's data!
📬 If you’re signed up with Simons Searchlight, you may have received a Research Match email to join the ORCA Study.
This study could help determine whether it’s a meaningful way to measure communication ability in kids with rare neurodevelopmental disorders like #MED13L.
📬 If you’re signed up with Simons Searchlight, you may have received a Research Match email to join the ORCA Study.
This study could help determine whether it’s a meaningful way to measure communication ability in kids with rare neurodevelopmental disorders like #MED13L.
🚨 Last Call for Nasal Swabs! 🚨
We’re helping power the Unravel Biosciences x COMBINEDBrain drug repurposing study — and we need YOUR help!
- Nasal swab from an individual with #MED13L
- Nasal swab from a household sex-related individual (parent/sibling)
📩 Interested? Email rheilmann@med13l.org
We’re helping power the Unravel Biosciences x COMBINEDBrain drug repurposing study — and we need YOUR help!
- Nasal swab from an individual with #MED13L
- Nasal swab from a household sex-related individual (parent/sibling)
📩 Interested? Email rheilmann@med13l.org
September 9, 2025 at 4:11 PM
🚨 Last Call for Nasal Swabs! 🚨
We’re helping power the Unravel Biosciences x COMBINEDBrain drug repurposing study — and we need YOUR help!
- Nasal swab from an individual with #MED13L
- Nasal swab from a household sex-related individual (parent/sibling)
📩 Interested? Email rheilmann@med13l.org
We’re helping power the Unravel Biosciences x COMBINEDBrain drug repurposing study — and we need YOUR help!
- Nasal swab from an individual with #MED13L
- Nasal swab from a household sex-related individual (parent/sibling)
📩 Interested? Email rheilmann@med13l.org
⛳ Wishing the very best of luck to Ashley Mort and her community as they come together this weekend for the 4th Annual #MED13L Golf Tournament in Macomb, MI!
👉 Interested in hosting a fundraiser of your own? Reach out to us at info@med13l.org to learn more!
med13l.org/event/4th-an...
👉 Interested in hosting a fundraiser of your own? Reach out to us at info@med13l.org to learn more!
med13l.org/event/4th-an...
September 4, 2025 at 2:46 PM
⛳ Wishing the very best of luck to Ashley Mort and her community as they come together this weekend for the 4th Annual #MED13L Golf Tournament in Macomb, MI!
👉 Interested in hosting a fundraiser of your own? Reach out to us at info@med13l.org to learn more!
med13l.org/event/4th-an...
👉 Interested in hosting a fundraiser of your own? Reach out to us at info@med13l.org to learn more!
med13l.org/event/4th-an...
Don’t get us wrong – researchers and practitioners DO care about #rare; however, they can only know as much as we are able to share.
🙏 We thank every family for completing even just one survey as we know just how busy your schedules are!
Learn more here:
med13l.org/knowledge-ba...
🙏 We thank every family for completing even just one survey as we know just how busy your schedules are!
Learn more here:
med13l.org/knowledge-ba...
August 29, 2025 at 2:32 PM
Don’t get us wrong – researchers and practitioners DO care about #rare; however, they can only know as much as we are able to share.
🙏 We thank every family for completing even just one survey as we know just how busy your schedules are!
Learn more here:
med13l.org/knowledge-ba...
🙏 We thank every family for completing even just one survey as we know just how busy your schedules are!
Learn more here:
med13l.org/knowledge-ba...
You’re invited to apply and serve on the Simons Searchlight Community Advisory Committee (CAC). The deadline to apply is Friday, September 12!
As a CAC member, you will have the chance to support Simons Searchlight’s research priorities. Learn more here:
docs.google.com/forms/d/e/1F...
#MED13L
As a CAC member, you will have the chance to support Simons Searchlight’s research priorities. Learn more here:
docs.google.com/forms/d/e/1F...
#MED13L
August 25, 2025 at 3:42 PM
You’re invited to apply and serve on the Simons Searchlight Community Advisory Committee (CAC). The deadline to apply is Friday, September 12!
As a CAC member, you will have the chance to support Simons Searchlight’s research priorities. Learn more here:
docs.google.com/forms/d/e/1F...
#MED13L
As a CAC member, you will have the chance to support Simons Searchlight’s research priorities. Learn more here:
docs.google.com/forms/d/e/1F...
#MED13L
👨🚒 Meet Jacob: a dedicated Firefighter/EMT and this week’s Sibs & Stripes feature!
Jacob’s sister, Molly, lives with #MED13L Syndrome, and alongside his siblings, he has embraced the roles of protector and advocate. His experience with MED13L has guided him toward a career as a first responder. 💙
Jacob’s sister, Molly, lives with #MED13L Syndrome, and alongside his siblings, he has embraced the roles of protector and advocate. His experience with MED13L has guided him toward a career as a first responder. 💙
August 20, 2025 at 2:15 PM
👨🚒 Meet Jacob: a dedicated Firefighter/EMT and this week’s Sibs & Stripes feature!
Jacob’s sister, Molly, lives with #MED13L Syndrome, and alongside his siblings, he has embraced the roles of protector and advocate. His experience with MED13L has guided him toward a career as a first responder. 💙
Jacob’s sister, Molly, lives with #MED13L Syndrome, and alongside his siblings, he has embraced the roles of protector and advocate. His experience with MED13L has guided him toward a career as a first responder. 💙
Between Dec 2024 and July 2025, the number of #MED13L cases represented in PubMed jumped from 160 to 218. That growth is thanks to YOU for completing caregiver surveys.
When the research doesn’t reflect real-life experience, your input will help bridge the research gap.
lnk.bio/med13lfounda...
When the research doesn’t reflect real-life experience, your input will help bridge the research gap.
lnk.bio/med13lfounda...
August 18, 2025 at 3:41 PM
Between Dec 2024 and July 2025, the number of #MED13L cases represented in PubMed jumped from 160 to 218. That growth is thanks to YOU for completing caregiver surveys.
When the research doesn’t reflect real-life experience, your input will help bridge the research gap.
lnk.bio/med13lfounda...
When the research doesn’t reflect real-life experience, your input will help bridge the research gap.
lnk.bio/med13lfounda...
When Sarah discovered the reason for her child’s condition, she cried happy tears.
“I wasn’t alone anymore. For the first time in 35 months, I felt like I was truly reading about my child."
While every #MED13L story is different, we are inspired by the glimmers of hope each family brings. 💙
“I wasn’t alone anymore. For the first time in 35 months, I felt like I was truly reading about my child."
While every #MED13L story is different, we are inspired by the glimmers of hope each family brings. 💙
August 14, 2025 at 1:54 PM
When Sarah discovered the reason for her child’s condition, she cried happy tears.
“I wasn’t alone anymore. For the first time in 35 months, I felt like I was truly reading about my child."
While every #MED13L story is different, we are inspired by the glimmers of hope each family brings. 💙
“I wasn’t alone anymore. For the first time in 35 months, I felt like I was truly reading about my child."
While every #MED13L story is different, we are inspired by the glimmers of hope each family brings. 💙
🎒Back-to-school prep requires more coordinating when your child has complex medical needs.
With mejo, you can:
-Organize your child’s medical and care profile
-Instantly share info with teachers, aides, and school nurses
📲 Learn more and download here: app.mymejo.com
#mejo #MED13L #RareDisease
With mejo, you can:
-Organize your child’s medical and care profile
-Instantly share info with teachers, aides, and school nurses
📲 Learn more and download here: app.mymejo.com
#mejo #MED13L #RareDisease
August 12, 2025 at 4:08 PM
🎒Back-to-school prep requires more coordinating when your child has complex medical needs.
With mejo, you can:
-Organize your child’s medical and care profile
-Instantly share info with teachers, aides, and school nurses
📲 Learn more and download here: app.mymejo.com
#mejo #MED13L #RareDisease
With mejo, you can:
-Organize your child’s medical and care profile
-Instantly share info with teachers, aides, and school nurses
📲 Learn more and download here: app.mymejo.com
#mejo #MED13L #RareDisease
While it can be frustrating that your doctor may not be familiar with your child’s #raredisease, Dr. Jennifer Bain of Columbia University and member of The #MED13L Scientific Advisory Board suggests focusing on managing the associated conditions to improve treatment plans and provide more context.
August 11, 2025 at 3:27 PM
While it can be frustrating that your doctor may not be familiar with your child’s #raredisease, Dr. Jennifer Bain of Columbia University and member of The #MED13L Scientific Advisory Board suggests focusing on managing the associated conditions to improve treatment plans and provide more context.
Meet Rowan Dias – a student, athlete, musician, and advocate dedicated to making sports more inclusive. As an intern at the #MED13L Foundation this summer, Rowan helped lay the groundwork for our upcoming podcast (stay tuned!)
Want to feature a MED13L sibling? Email info@med13l.org!
Want to feature a MED13L sibling? Email info@med13l.org!
August 6, 2025 at 4:57 PM
Meet Rowan Dias – a student, athlete, musician, and advocate dedicated to making sports more inclusive. As an intern at the #MED13L Foundation this summer, Rowan helped lay the groundwork for our upcoming podcast (stay tuned!)
Want to feature a MED13L sibling? Email info@med13l.org!
Want to feature a MED13L sibling? Email info@med13l.org!
Real change doesn’t just happen in the labs and in clinical trials; it happens at home. Make Every Story Count—turn your #MED13L story into science. Please take a few minutes to complete this important survey: redcap.combinedbrain.org/surveys/?s=W...
August 4, 2025 at 4:57 PM
Real change doesn’t just happen in the labs and in clinical trials; it happens at home. Make Every Story Count—turn your #MED13L story into science. Please take a few minutes to complete this important survey: redcap.combinedbrain.org/surveys/?s=W...
📂 Thank you to everyone who has submitted their medical records to Citizen Health to support research and help speed the path toward treatments.
Let’s #MakeEveryStoryCount. Help researchers understand #MED13L from every angle so we can unlock answers faster.
www.citizen.health/partners/med...
Let’s #MakeEveryStoryCount. Help researchers understand #MED13L from every angle so we can unlock answers faster.
www.citizen.health/partners/med...
July 30, 2025 at 5:52 PM
📂 Thank you to everyone who has submitted their medical records to Citizen Health to support research and help speed the path toward treatments.
Let’s #MakeEveryStoryCount. Help researchers understand #MED13L from every angle so we can unlock answers faster.
www.citizen.health/partners/med...
Let’s #MakeEveryStoryCount. Help researchers understand #MED13L from every angle so we can unlock answers faster.
www.citizen.health/partners/med...
5,690+ individuals across 123 rare genetic conditions + 19 CNVs linked to #autism and related disorders. For the first time ever, 33 new genetic communities are included!
Researchers: Apply at SFARI Base.
Families: Make your story count and sign up at Simons Searchlight.
#MED13L
Researchers: Apply at SFARI Base.
Families: Make your story count and sign up at Simons Searchlight.
#MED13L
July 28, 2025 at 4:04 PM
Uplifting Experiences harnesses the power of sport to inspire joy, hope, and community in the lives of people impacted by rare diseases. Athletes and people impacted by #rarediseases get to come together and build memorable experiences.
🏈 Follow them to stay in the loop and support their mission!
🏈 Follow them to stay in the loop and support their mission!
July 23, 2025 at 5:16 PM
Uplifting Experiences harnesses the power of sport to inspire joy, hope, and community in the lives of people impacted by rare diseases. Athletes and people impacted by #rarediseases get to come together and build memorable experiences.
🏈 Follow them to stay in the loop and support their mission!
🏈 Follow them to stay in the loop and support their mission!