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June, 2024
Hello Reader,
We sincerely thank all those who participated in World MED13L Day and extended the celebration throughout the entire month of May for MED13L Awareness Month. Our community continues to grow thanks to your awareness campaign contributions, while our research and outreach projects keep expanding due to your fundraising efforts. MED13L Awareness Month was a success because of all of YOU! We are thrilled to report that our preliminary fundraising efforts raised just shy of $20,000. We're nearly halfway to our goal of $50,000!
Having a common goal that is well-defined and achievable is crucial to raising funds, so the community understands the purpose of their efforts. As you may have already heard, we are planning a Family and Research Conference in the summer of 2025. This is a significant undertaking, and we need to raise $50,000 to make this a reality. Together, we can make this happen! Please consider supporting this effort.
With much gratitude,
The MED13L Foundation Board Members
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Research Update
RARE-X - Watch the foundation's Director of Research and Board Member review the MED13L community's first month of participation with RARE-X Natural History Database.
Click to access the video and accompanying slides to learn more about what other families are reporting on their children.
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We need your help! We are 1 registration away from reaching our goal of having 40 MED13L families registered by July with our patient registry, Rare-X.
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Simons Searchlight New Abstract (P152): Seizure severity across neurogenetic conditions
- Analysis of seizure history survey across 28 genes
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Seizure severity was scored on a 5-point scale using reported abnormal EEG, history of previous or current seizure activity, use of anti-seizure meds and if the meds worked
- Of 55 caregivers who completed the seizure history survey, 15% reported treatment and 2% refractory (multiple medication trials or combinations, high doses)
- This was on the lower end of those reported with treated and/or refractory seizures
- Genes identified with higher percentages of treated or refractory seizures include: STXBP1, SLC6A1, SYNGAP1, CSNK2B
- This data aligns with reported literature around seizure incidence
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Recipient of the RARE Research Readiness Fellowship
MED13L Foundation was selected as a recipient of the 2024 RARE Research Readiness Fellowship. Over 30 organizations submitted applications in the inaugural year for this funding program! This fellowship provides patient advocacy leaders with the opportunity to make a tangible difference in the lives of rare disease patients and caregivers across the globe.
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New Website Announcement
The MED13L Foundation is excited to share with our community a new and updated website! Over the coming weeks, we will highlight features and sections that were created specifically for you, our MED13L community. New aspects of the site include an interactive directory of families and individuals impacted by MED13L in the form of a Map, a research hub that explains the latest research and what the foundation is currently investing in and a whole section devoted to supporting individuals and families that are newly diagnosed and just beginning their MED13L journey. This website is for you, our community, so please share any and all feedback as you check out the new site!
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EXCITING ANNOUNCEMENT - Research opportunity to help end the diagnostic journey!
We have collaborated with the Probably Genetic team to bring free genetic testing to individuals suspected of having rare genetic disorders.
We need your help to gather information by submitting training responses to Probably Genetics online symptom checker and reporting your diagnosis in the Already Diagnosed section. We encourage you to engage with the chatbot as if you are unfamiliar with the diagnosis and submit feedback about the process to help improve the experience for our community.
Reporting your loved one's experience can help end the diagnostic journey.
Participate HERE.
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National Organization for Rare Disorders
We are excited about being a member of NORD, National Organization for Rare Disorders. NORD advances practical, meaningful, and enduring change so people with rare diseases can live their fullest and best lives. Every day, we elevate care, advance research, and drive policy in a purposeful and holistic manner to lift up the rare disease community.
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Happy Father's Day to all of the amazing MED13L fathers, grandfathers, and father figures in our community!
Don't forget to check out our special Father's Day collection on Bonfire.
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SHINING STAR SPOTLIGHT
EDA Contractors, Inc
MED13L Foundation is honored to be an EDA Contractors, Inc Cares Charity of Choice for 2024
To date, EDA employees have already helped raise nearly $9,000 for MED13L!
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MED13L Foundation Community Zoom: Uplifting Athletes
In April, MaKaylie Peterkin from Uplifting Athletes discussed their Uplifting Experiences program, which uses sports to inspire hope and joy for people with rare diseases. These events connect the local rare disease community with athletes. Feedback from our members who participated has been very positive. The MED13L Foundation is always looking for new resources and opportunities for our families. If you know of a program or organization that supports positive experiences for those with special needs or rare diseases, please email us at info@med13.org.
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"At the end of the day, it's not about what you have or even what you've accomplished. It's about what you've done with those accomplishments. It's about who you've lifted up, who you've made better. It about what you've given back"
— Denzel Washington
In Case You Missed It:
MED13L FOUNDATION RARE-X
MED13L PATIENT REGISTRY
Help us reach our goal of 40 patients registered by the end of June!
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We are looking for individuals who have
made an impact in your MED13L Journey.
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Not subscribed to our newsletters or interested in registering someone?
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