The MED13L Foundation
@med13lfoundation.bsky.social
Where data fuels discovery and every variant finds a voice — Every Story Matters.
It’s Rare Disease Month and wearing #MED13L gear is an easy way to show support and raise awareness. Every purchase helps fund our work and amplify the voices of the MED13L community.
Use code WearItShareIt for 15% off our Bonfire (merch) shop this February.
Shop: www.bonfire.com/store/the-me...
Use code WearItShareIt for 15% off our Bonfire (merch) shop this February.
Shop: www.bonfire.com/store/the-me...
February 10, 2026 at 4:31 PM
It’s Rare Disease Month and wearing #MED13L gear is an easy way to show support and raise awareness. Every purchase helps fund our work and amplify the voices of the MED13L community.
Use code WearItShareIt for 15% off our Bonfire (merch) shop this February.
Shop: www.bonfire.com/store/the-me...
Use code WearItShareIt for 15% off our Bonfire (merch) shop this February.
Shop: www.bonfire.com/store/the-me...
The MED13L Foundation is proud to partner with Simons Searchlight in their Shine Your Searchlight 2026 campaign!
📝 Register for Simons Searchlight
🧬Upload your genetic testing report
🩺Share your medical history and experiences
accounts.simonssearchlight.org
📝 Register for Simons Searchlight
🧬Upload your genetic testing report
🩺Share your medical history and experiences
accounts.simonssearchlight.org
February 5, 2026 at 5:50 PM
The MED13L Foundation is proud to partner with Simons Searchlight in their Shine Your Searchlight 2026 campaign!
📝 Register for Simons Searchlight
🧬Upload your genetic testing report
🩺Share your medical history and experiences
accounts.simonssearchlight.org
📝 Register for Simons Searchlight
🧬Upload your genetic testing report
🩺Share your medical history and experiences
accounts.simonssearchlight.org
With more than 10,000 rare conditions, everyone likely knows someone impacted by a rare disease. As we approach Rare Disease Month, let's spread awareness, build community, and share our stories.
#ShowYourStripes this February and on February 28 for #RareDiseaseDay as you get into the spirit!
#ShowYourStripes this February and on February 28 for #RareDiseaseDay as you get into the spirit!
January 28, 2026 at 4:56 PM
With more than 10,000 rare conditions, everyone likely knows someone impacted by a rare disease. As we approach Rare Disease Month, let's spread awareness, build community, and share our stories.
#ShowYourStripes this February and on February 28 for #RareDiseaseDay as you get into the spirit!
#ShowYourStripes this February and on February 28 for #RareDiseaseDay as you get into the spirit!
Every completed Census helps create more moments like this, where families realize they are not alone.
Please take a few minutes to complete the #MED13L Census and help us continue building connection and community. 👇
med13l.org/research-hub...
Please take a few minutes to complete the #MED13L Census and help us continue building connection and community. 👇
med13l.org/research-hub...
January 26, 2026 at 3:56 PM
Every completed Census helps create more moments like this, where families realize they are not alone.
Please take a few minutes to complete the #MED13L Census and help us continue building connection and community. 👇
med13l.org/research-hub...
Please take a few minutes to complete the #MED13L Census and help us continue building connection and community. 👇
med13l.org/research-hub...
By completing the #MED13L Census, you help us understand where families are located, plan future meetups and CombinedBrain road trips, and strengthen research efforts.
Complete the Census today!
lnk.bio/med13lfounda...
Complete the Census today!
lnk.bio/med13lfounda...
January 19, 2026 at 4:42 PM
By completing the #MED13L Census, you help us understand where families are located, plan future meetups and CombinedBrain road trips, and strengthen research efforts.
Complete the Census today!
lnk.bio/med13lfounda...
Complete the Census today!
lnk.bio/med13lfounda...
We just added a new FAQ that breaks this down clearly and reassures families that
• earlier doctors were not wrong
• co diagnoses are common and valid
• continuing evaluations can improve care
🔗 Read the full #MED13L Diagnosis FAQ here:
med13l.org/what-is-med1...
• earlier doctors were not wrong
• co diagnoses are common and valid
• continuing evaluations can improve care
🔗 Read the full #MED13L Diagnosis FAQ here:
med13l.org/what-is-med1...
January 6, 2026 at 5:45 PM
We just added a new FAQ that breaks this down clearly and reassures families that
• earlier doctors were not wrong
• co diagnoses are common and valid
• continuing evaluations can improve care
🔗 Read the full #MED13L Diagnosis FAQ here:
med13l.org/what-is-med1...
• earlier doctors were not wrong
• co diagnoses are common and valid
• continuing evaluations can improve care
🔗 Read the full #MED13L Diagnosis FAQ here:
med13l.org/what-is-med1...
You could be unlocking extra funds for rare disease research just by donating. Ask your HR department today and use the QR Code (or this link: med13l.org/donate/) to get started!
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
December 19, 2025 at 10:46 PM
You could be unlocking extra funds for rare disease research just by donating. Ask your HR department today and use the QR Code (or this link: med13l.org/donate/) to get started!
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
#CorporateMatching #MED13L #RAREDISEASERESEARCH #careaboutrare #med13lsyndrome #RareDisease
We are excited and honored to share that Jake Wuest has joined the Board of Trustees!
After his son's diagnosis with #MED13L, the Wuest family has supported the Foundation. As a seasoned banking executive, Jake brings significant nonprofit board experience along with strong financial expertise!
After his son's diagnosis with #MED13L, the Wuest family has supported the Foundation. As a seasoned banking executive, Jake brings significant nonprofit board experience along with strong financial expertise!
December 8, 2025 at 4:16 PM
We are excited and honored to share that Jake Wuest has joined the Board of Trustees!
After his son's diagnosis with #MED13L, the Wuest family has supported the Foundation. As a seasoned banking executive, Jake brings significant nonprofit board experience along with strong financial expertise!
After his son's diagnosis with #MED13L, the Wuest family has supported the Foundation. As a seasoned banking executive, Jake brings significant nonprofit board experience along with strong financial expertise!
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 [email protected]
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 [email protected]
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 [email protected]
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 [email protected]
⛳ 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 [email protected] to learn more!
med13l.org/event/4th-an...
👉 Interested in hosting a fundraiser of your own? Reach out to us at [email protected] 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 [email protected] to learn more!
med13l.org/event/4th-an...
👉 Interested in hosting a fundraiser of your own? Reach out to us at [email protected] 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...