It's Rare Disease Month! How are you raising awareness? Each time you share your story, you help enlighten others about experiences they're unfamiliar with.
A message from the Founder: The creation of The MED13L Foundation’s tagline, “Communicating, Connecting, Empowering” was born from the immediate needs of our MED13L community. Our nonprofit was the first focused on MED13L in the United States which led to communicating with those families diagnosed early on. Our families had been navigating a MED13L diagnosis with little to no information so the goal of connecting these families was a priority. At the time of diagnosis, most families were given the advice from their genetics teams/physicians to find other families to learn from each other. This was certainly a daunting task.
Our resilient families started searching and communicating online through social media and then began making personal connections while sharing their triumphs and heartaches. As we were communicating and connecting families, we were empoweringour community to continue to search for answers, advocate for their children, feel connections with others that truly understood, and support and inspire others on their personal MED13L journey. All of this supports work towards our broader mission to find medicines for MED13L.
Due to this deep-felt drive to better the lives of our loved ones, we have created a foundation that is strongly competing in the rare disease world of research and scientific collaboration and generating tangible outcomes that will help our families. Due to the strength, dedication, and determination of our incredible MED13L families, we have accelerated as a PAG (Patient Advocacy Group).
Let’s continue to advocate for those living with MED13L and follow where the research takes us! A great way to do this is to unite and participate in the call to action for Rare Disease Day on February 29, 2024.
With much gratitude,
Kelly Sexton, Founder, Vice President
Did You Know?
This February, we have a unique opportunity to amplify our impact for Rare Disease Day, falling on the special leap year date of February 29th, 2024. Join us in a global effort to raise awareness for MED13L by:
Updating Your Profile Picture: ADDour MED13L frame to your social media profiles.
Following and Sharing: Click icons below to follow us on Facebook, X, Instagram, LinkedIn and YouTube. Share our infographics to educate your community.
Your actions can drive real change. Let's stand together this Rare Disease Day to spotlight MED13L.
Research and Caregiver/Patient-Entered Data Collection Platforms Explained
How will you participate?
What is research? What is The MED13L Foundation's approach?
Research is simply a systematic investigation, including development, testing, and evaluation, designed to develop or contribute to generalizable knowledge. The MED13L Foundation is focused on funding research studies that support the efforts to find therapeutics for the broader community.
What MED13L Foundation caregiver/patient-entered data collection research studies are available? (1) RARE-X (2)Simons Searchlight (3)Brain Gene Registry Research that ONLY you can provide!
Natural History research studies are profoundly valuable in understanding how medicines can impact the broader MED13L community as well as for families who participate, as described below.
RARE-X is a 501(c)(3) nonprofit established to build a Data Collection Program for families impacted by MED13L. This is a caregiver-entered long-term Natural History research study.
Why should you participate?
You own the data! Every survey you enter, you get a copy of! You can use this with doctors, therapists going forward to track your child's personal history.
Every individual counts! Upload genetic reports in multiple languages, share data for those living or passed away, surveys available in English, French, Spanish, and Portuguese, constantly evolving to meet needs of families to advance research.
ALL those who consent will see aggregated data for surveys every quarter from the MED13L Foundation.
Easy integration into the MED13L website. You can always find your portal!
The MED13L Foundation (and researchers) can request de-identified data to share with the community and use for presentations, posters, and beyond.
Your data is de-identified and highly protected for anyone requesting it. (This includes compliance with privacy laws around the world!)
Inform researchers how MED13L changes over time for your loved one and the community.
Comprehensive and validated surveys and tools for trial readiness.
Enable the use of data as a placebo (instead of actual patients) in a clinical trial (FDA Guideline).
Simons Searchlight is also a 501(c)(3) nonprofit established to study roughly 175 genes. Initially, this research study was focused on genes that contribute to autism. It has expanded to include broader neurodevelopmental genetic disorders. This is a caregiver/patient-entered long-term Natural History research study.
Why should you participate?
Long time partner of The MED13L Foundation with researchers who have collected specific information from the community.
Phone interview for medical history.
Surveys focused on behavioral, developmental, seizures, communication and other neurological contributors - typically done annually.
Optional blood sample donations for the Simons Searchlight repository.
Select survey results analyzed on quarterly basis. Available here.
Languages for study participation include English, Spanish, French and Dutch.
Data and iPSC samples available to researchers only via request through SFARI base.
If you haven't signed up for Simons Searchlight, enroll here!
The Brain Gene Registry is a NIH grant-funded research study led by Washington University - St Louis, Boston Children's/Harvard, and University of North Carolina. Genes of interest have an underlying intellectual disability and/or autism. While all can participate, it focuses on gathering information for variants of unknown significance (VUS). This is a one-time caregiver/patient-entered data collection research study.
Why should you participate?
Anyone with a genetic report with a variant can participate. MED13L is a top gene of interest.
Enrollment in GenomeConnectis encouraged for notification of VUS (Variant of Unknown Significance) gene changes and other helpful resources.
For individuals receiving a genetic report with a VUS, BGR gathers valuable clinical information that is necessary for reclassification of variants.
Reclassification to pathogenic or likely pathogenic variant is important for 1) validating a clearer diagnosis of MED13L vs another cause 2) being included in clinical trials 3) broadening the clinical and research communities understanding of symptoms.
If you agree to participate in any of the data collection research studies mentioned above, you will need to consent to your participation.
An informed consent is where you (as the participant or subject or speaking on behalf of the participant or subject) receive information about the research study.
Information includes, but is not limited to: details about the research study, tests or procedures that could occur, costs, any potential benefits or risks, and what rights and obligations the participant or subject has as volunteer.
Consent can be provided in person, virtually, or in written form. Consents have gone through rigorous reviews by institutional review boards (IRB) to ensure all aspects are covered for the participant or subject and the rights and well-being of the participant or subject are preserved. It is YOUR choice to participate or to not participate without any jeopardy to you or your health care.
MED13L Shining Star Spotlight
We are looking for individuals who have made an impact in your MED13L Journey.
Each month we will spotlight a MED13L community member. This person should be known for providing excellent care and/or support to someone diagnosed with MED13L. Nominate your special someone by completing the application with a brief summary on how she/he has had a positive impact on an individual with MED13L. Remember, the nominee can be a caregiver, friend, neighbor, teacher, therapist, respite worker, physician, etc. We want our growing community to know how much we need and appreciate their continued support.
MED13L Shining Star Spotlight: Lindsey and Kathy Wood
Early on during the creation of our foundation, our family members found comfort connecting and communicating with one another. The first goal of our nonprofit was encouraging this form of engagement to learn from each other and feel supported. We were all desperate to learn more about our kiddos. As you can imagine, it is not always easy opening up to strangers, especially on a social media platform. We were all very lucky that an older MED13L community member, Lindsey, and her mother, Kathy, provided a calming voice, experience, and kindness at a time when there were very few individuals diagnosed with MED13L and when many of us were struggling to understand what the future might bring.
Lindsey was a vibrant and kindhearted soul. As her mom Kathy has pointed out, Lindsey battled many different illnesses but found the strength and love in her heart to advocate for the MED13L community simply by being kind, listening to others, and engaging. To our community she was a source of compassion, guidance, and hope. Lindsey often reached out to our families with words of encouragement, and many looked up to her since she was one of our oldest diagnosed MED13L members.
We will forever be grateful for the time both Lindsey and Kathy shared with us. Kathy continues to support our group even after the passing of her beloved Lindsey. Our community holds Kathy close to our hearts and always will be grateful to both her and Lindsey.
YOUR FOUNDATION IN ACTION:
Upcoming Events:
February and March 2024 - Simons Searchlight Rare Disease Awareness Month Webinar Series
Various Dates and Times in February and early March
In celebration of Rare Disease Awareness Month in February, Simons Searchlight is hosting an engaging webinar series, offering valuable insights and expert perspectives. Mark your calendars and register for these enlightening sessions.
Wednesday, February 14 at 12pm EST:Q&A with Simons Searchlight Genetic Counselors: Navigating New Diagnoses, Genetic Testing, and Resources
Wednesday, February 21 at 4pm EST:“What is Apraxia of Speech and How Should We Treat It?”
Wednesday, February 28 at 12pm EST:“The Impact of Participation and Data in Genetic Research: Insights from Simons Searchlight and SFARI Researchers”
Wednesday, March 06 at 12PM EST:Q&A with Dr. Cora Taylor: Behavioral Interventions for the Simons Searchlight Community
Join us as we raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families and caregivers, especially the MED13L community.
Happening Now!
Purchase Your Gear Before Rare Disease Day! Change Rare Lives! Looking for an easy way to support The MED13L Foundation? Celebrate Rare Disease Day by participating in The MED13L Foundation Rare Disease Day merchandise sale, including the "Change Rare Lives" shirt. This is a great way to show your support for the MED13L community while easily asking your friends and family to join in.
"In the face of rarity, let unity be our strength."
