Collaboration and networking are vital for the MED13L Foundation's success. Last April, our board members and parents actively participated in the RARE Drug Development Symposium in Philadelphia, engaging in discussions with key stakeholders and hosting a MED13L table. This engagement has fostered a partnership with RARE-X to establish a data collection initiative for MED13L-impacted families. Looking forward, we're excited about the upcoming Global Genes conference and the insights our members will gain. As May, the MED13L Awareness Month, approaches, we encourage our community to advocate, participate in World MED13L Day on May 13th, and engage with RARE-X. Our collective efforts in awareness, fundraising, and networking underscore our strength and commitment to our mission.
The MED13L Board Members at Global Genes, Philadelphia 2023
With much gratitude,
Kelly Sexton, Founder Vice President
Friends,
I wanted to take this opportunity to share our family’s MED13L story, and why we are so grateful for the MED13L Foundation, and for opportunities such as RARE-X that assist the Foundation in promoting research.
Our son Ilan is a sweet, smiley, fun-loving 11 year old boy with MED13L syndrome. He was diagnosed at age 2, nearly a decade ago, back when the very first research publications about the syndrome were coming out. The diagnosis propelled me into a frantic pursuit of potential interventions and therapeutics that can somehow mitigate Ilan’s genetic verdict. I contacted every researcher who published anything related to MED13L, neuroscientists, geneticists, pharma companies, and even a Nobel Laureate in medicine. I learned a lot from great minds, but they all responded that there was nothing to be done at the time and were not very optimistic about future developments.
World MED13L Day, initiated in 2020, is observed on May 13th. This year, we're elevating our efforts by dedicating the entire month to raising awareness and support for MED13L, marking May as MED13L Awareness Month.
You've been asking and we've been listening. We are thrilled to announce our fundraising efforts for May will go toward a 2025 Research and Family Conference. Organizing such conferences comes with substantial costs, and to bring this vision to life, we need YOUR participation.
Follow us on our social media platforms to discover ways you can contribute to raising awareness and funds this May and to honor World MED13L Day!
The Cornhole Tournament, organized in support of the MED13L Foundation, proved to be a remarkable success in both raising awareness for Med13L and contributing to the foundation's efforts in finding a cure. Hosted by Ashley Mort, a MED13L Mom, and her family, the event was filled with laughter, competitive spirit, and a shared sense of purpose. Thanks to generous donations and the enthusiasm of participants, including the donation of baskets for raffle, the tournament managed to raise nearly $3,000, underscoring the community's commitment to making a tangible difference in the lives of those affected by MED13L syndrome.
Upcoming Events:
April 30, 2024 - MED13L Foundation Community Zoom: Uplifting Athletes and MED13L Day Fundraising Update at 7:00 PM EST on Zoom
Zoom - 7:00 PM - 8:30 PM EST
Topic - A representative from Uplifting Athletes will join us to discuss Uplifting Experiences. The top priority of this program is to harness the power of sport to inspire hope and joy in the lives of people impacted by rare diseases. The objective of each event is to provide an opportunity for members of the local rare disease community and athletes to connect.
Also, in preparation of MED13L Awareness Month, Ashly Mort will update the group on plans to fundraise during the month of May for World MED13L Day. Mark your calendars!
a mental health specialist and a family member of a child with MED13L within our group who will be facilitating weekly support group meetings.
I am glad to be joining this community. I have 2 grandbabies, both of whom have been diagnosed with MED13L. They are a huge part of my life and are the sweetest happiest little people. Each milestone and skill is so exciting. They are growing and changing every day. In my search to find community, I found the foundation and am so happy that I have. Reading about and seeing other families has been so helpful. In hopes of bringing this community even closer together, I would like to start parent support group meetings. I am a certified Psychiatric Nurse practitioner with experience working with adults, children and families.
My hope, together with the foundation, is to build a safe space for parents to talk, to listen and to share. Sharing can include stories, hopes, dreams, fears, grief or any other feeling that is being experienced. We are putting together some options for meeting days and times. I encourage anyone interested to share your availability and your interest in attending a group. I hope to meet you soon.
Please email info@med13l.org for more information.
Our Mr. Chris! In 2016 we were given the opportunity to apply for respite care for our two sons, Dylan and Logan, who both have MED13L in addition to Autism. To be honest, we had no idea what respite care was initially but came to realize that it could potentially provide a tremendous amount of support for Dylan and Logan and our entire family. Without a dynamic support system, families with disabled loved ones can feel an incredible amount of isolation and defeat and often live a life of very limited life experiences.
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.
