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September, 2024
Hello Reader,
As we welcome September, a month dedicated to Self-Care Awareness, we want to emphasize the importance of taking care of those who care for others. At the MED13L Foundation, we recognize the incredible dedication and resilience of parents and caregivers in our community. This issue is devoted to providing you with valuable resources, such as the Global Genes RARE Concierge Support, our monthly support group, and other tools designed to support your well-being. Let’s take a moment to acknowledge the caregivers in our lives, and if you are a MED13L caregiver, we encourage you to prioritize yourself this month—whether it’s a moment of rest, a small act of kindness to yourself, or simply taking a breath. You deserve it.
With much gratitude,
The MED13L Foundation Board Members
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Research Update
- We have a hit! Rarebase delivers.
- Simons Searchlight Puberty Results: Why does this matter to you?
- Report Prevalence Article
Read More Below
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We have a hit! Rarebase delivers.
It’s not a home run, but a solid double from Rarebase! After a long couple of years and two rounds of testing, naproxen was shown to upregulate MED13L mRNA in MED13L patient-derived neurons.
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Simons Searchlight Puberty Results: Why does this matter to you?
- This topic always seems to be hot in the Facebook Family Group. It’s great to see some data accumulating.
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Research Opportunity
🌟 Join the Kelleher Lab Study at Purdue University! 🌟 The Kelleher Lab is conducting important research on MED13L, and they need participants from our community. Your involvement can help advance understanding and support for those affected by MED13L. To participate or learn more, email wellcast@purdue.edu. Together, we can make a meaningful impact!
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Join Oana, a fellow MED13L parent, as she represents our community at the NORD Rare Diseases and Orphan Products Breakthrough Summit, October 20-22, 2024, in Washington, DC. This event gathers leaders in rare disease research, advocacy, and policy. You can attend in person or watch online. Dedicated members like Oana are crucial, and we need more support to provide vital resources. To get involved, contact Katie at kbboychuck@med13l.org. The summit will focus on “Equitable Access to Innovation,” covering clinical trials, gene therapy, AI, and more.
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Join the Global Epilepsy Needs Study!
The International Bureau for Epilepsy (IBE) invites you to take part in the Global Epilepsy Needs Study, a groundbreaking initiative aimed at understanding the needs of individuals with epilepsy and their caregivers. Your participation in IBE’s survey can help drive meaningful change and improve lives.
Here's how you can get involved:
- Take the Survey: Click HERE to access the GENS survey.
- Spread the Word: Share this post to help us reach more people and make a bigger impact!
Thank you for your support! 💜
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Got CRID?
- If you have a CRID for your child or children, update Simons and RARE-X! Look for the alternative or other ID section.
- This can help researchers link de-identified data between databases and any donations to the biorepository!
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MAKE YOUR CHILD COUNT & MAKE A DIFFERENCE
Did your child donate to the biorepository or participate in a blood draw last year or this year? Enroll in RARE-X and add your CRID! This de-indentified data is being tied to samples and research projects!
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MED13L SUPPORT GROUP
Care for the caregiver, because you can’t give from an empty cup.
Sept 30th Support Group 8:00pm ET
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Community Spotlight
Rhianna's Journey From School Days to Working Life
If you’re in the family and friends MED13L Facebook Group, you’ve likely followed Rhianna’s inspiring updates. In this article, her mom shares the story of one of the most challenging transitions—moving from school to adult life—and how Rhianna is thriving in her new role. Don’t miss this heartwarming look at her journey into the workforce.
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How to Organize a Fundraiser
by Oana Lupo (MED13L Parent)
Like all of us, I never anticipated being flung into the world of caring for a special needs child and everything that entails – from advocating for therapy appointments, to navigating health insurance bureaucracies and even fundraising for a cure.
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Shining Star Spotlight
Nominee: Mrs. Jessen
Submitted by: Christine Knapp
Randi Jessen has been Maiya’s main para this school year in Kindergarten. This was a new school for Maiya and Mrs. Jessen has made it great. She treats her like any other kindergartener but helps her succeed and praises all her little (and big) achievements with such excitement! She meets Maiya right where she is at and loves her like her own!
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Why I Chose To Volunteer for The MED13L Foundation as a Family Member
Kim Sokorai, a MED13L Foundation Volunteer, is the sister of Kelly Sexton (the founder of The MED13L Foundation) and Aunt to Dylan and Logan who were both diagnosed with MED13L in 2016.
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Special Education Resource Guide
New Educational Resources from Pediatric Epilepsy Surgery Alliance! Power Hours are now available, offering guidance on topics ranging from Back to School with an IEP to Supporting Siblings and Financial Planning. You can find these informative sessions and more educational videos on their YouTube channel. Click below to watch and learn more!
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Join the MED13L Volunteer Team
We need your help! As a special needs parent, you may feel too busy, but so are the parents working hard every day to advance research and improve care for our children. All work is remote, and we’ll meet you where you are. Whether you have experience in marketing, education, healthcare, social work, or just love someone with MED13L, your support is vital. Email info@med13l.org and join us in outreach, fundraising, or community engagement—every bit of help counts!
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“
Having gone through many years of Owen’s life never knowing another person like him, to being in a safe group environment surrounded with other children with the same diagnosis was an indescribable experience. Witnessing all our children’s similarities but also what makes each of them different was amazing and spending time with other MED13L families was so rejuvenating.”
— Isabelle, MED13L Parent
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