Keep Reading to learn about how YOU can make an impact by sharing your journey. Hello Families and Friends,
How did you celebrate Rare Disease Day? Board Member Katie Boychuck represented the MED13L Foundation at Rare Disease Week on Capitol Hill, hosted by the Rare Disease Legislative Advocates, to advocate for change and foster connections that benefit rare disease patients for generations. This event educates and empowers advocates from all backgrounds to directly influence policy proposals impacting the rare disease community.
On February 26, 2024, I had the privilege, alongside nearly 1,000 other rare disease advocates, to speak to members of Congress and share my son Collin’s story and the challenges of MED13L. We put a spotlight on rare diseases. I stood alongside patients young and old, fellow caregivers, and parents who have lost their children to rare diseases. Together, we demanded that our representatives show their care for rare diseases. It's hard to articulate all the emotions from that weekend.
It was empowering to have a voice not just for Collin but for everyone affected by MED13L. Daily, I navigate a world where many take their health for granted, where the abilities of their children are assumed, while I watch my son attend endless therapy sessions to develop skills that others his age acquire naturally. I see my son struggle and harm himself out of frustration from being unable to communicate his needs. I feel isolated. Yet, at Rare Disease Week, organized by the EveryLife Foundation, I was reminded that I am not alone.
Despite our varied paths, it was beautiful to share the journey with others who truly understand the meaning of "hard." Next year, I hope you’ll join me.
Together, we can share our MED13L stories with our representatives to ensure they recognize that 'rare' means recognized, not forgotten. You can learn more about EveryLife Foundation and its mission here. Below is the brief story and request I shared with my members of Congress.
Honorable Member of Congress, I'm Katie Boychuck from the north side of Chicago, or simply Collin's mom. Around 4 months old, Collin's development diverged from that of his older brothers. He developed crossed eyes that required surgical repair, failed hearing tests, multiple hernias, and episodes of stopped breathing at night—all necessitating surgical intervention. Consequently, he was no longer meeting his developmental milestones. Life was undeniably more challenging for Collin. The doctors recommended genetic testing but didn't expect significant findings. That's why I was stunned when a notification popped up in Collin's chart: "MED13L mutation, pathogenic." I wondered what could these letters and numbers mean. Read the full article below.
The majority of The MED13L Board Members are MED13L parents! We are navigating similar obstacles as you, so we certainly empathize with what families with MED13L are going through
. This means your families are extremely important to us because we are experiencing the same thing as parents. We all want the best care, therapies, research, information, and support for ALL our kids. Become a volunteer today and support our MED13L community.
The MED13L Foundation commissioned this research roadmap in 2022. It is a living document that illustrates the progress and opportunities identified in 4 key areas: 1) Patient and Community engagement 2) Scientific Tools and Research 3) Clinical Tools and Research 4) Regulatory and Advocacy Needs. Each bend in the road encompasses some or all of these areas. As a family affected by MED13L Syndrome, you have the choice in how you engage to move the community forward. This can be as simple as sharing your journey through RARE-X, volunteering for a MED13L Foundation subcommittee, hosting a social media fundraiser, or whatever meets your family's goals and needs. Your voice matters and your story matters.
The MED13L Foundation invites you to join us for our Rare-X Launch Party Zoom. RARE-X is a 501(c)(3) nonprofit established to build a Data Collection Program for families impacted by MED13L and we are thrilled to be collaborating with Global Genes on this endeavor.This is a caregiver-entered long-term Natural History research study. The purpose of this Zoom is for our community to get to know Rare-X before building your profile.
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).
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.
We would like to congratulate Emma Torok for being the MED13L Shining Star for the month of March! For the last six years Emma has been a wonderful and devoted friend to our daughter Coral. They met in middle school and connected over many similar interests such as school spirit events, track and field, and theatre. Emma was one of Coral’s track mates who ran alongside students with disabilities in the Unified Track Program, a collaborative track team that supports special needs athletes. At school, they would spend time together sitting in the cafeteria making silly videos and cracking jokes. Later on in high school, they stayed in touch on the phone or FaceTime during Covid, which brightened Coral’s day during long periods of boredom.
When Emma was in a pageant for the Miss Panther competition, she invited Coral to be one of her friends to join in the pageant. Together with a few other girls, Emma took Coral to the mall and had a “girls day out,” getting Chick Fil A and shopping for matching formal dresses to wear at the pageant. Thanks to YouTube, Coral can still remember this special day by replaying the awesome pageant videos. What an opportunity for our daughter! Emma and Coral graduated high school together, taking photographs and laughing.
Emma is currently a freshman in college at the University of Scranton majoring in elementary education and possibly adding on a certification in special education. They stay in touch over texting and meeting up for ice cream when Emma comes home from college. This wonderful young woman deserves recognition for being a true genuine friend who sees our daughter beyond her disability and who is truly dedicated to working with children and adults with special needs. What she gave Coral was self-esteem, true friendship, and the unexpected benefit of teaching her social skills just by being a role model. Our daughter was able to have many typical teenage high school experiences because of her friendship with Emma. We wish the very best for her for the future!
YOUR FOUNDATION IN ACTION:
Upcoming Events:
March 16, 2024 - RARE-X Launch Party at 12:00 PM EST on Zoom
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 the last session in March.
Watch Simons Searchlight Webinar Recordings from Rare Disease Awareness Month
Did you miss out on the Rare Disease Awareness Month Webinar Series hosted by Simons Searchlight?
It's not too late to catch up on-demand! Dive into crucial topics such as navigating new diagnoses, genetic testing, and available resources in our Q&A with Simons Searchlight Genetic Counselors. Gain insights into "What is Apraxia of Speech and How Should We Treat It?" Explore "The Impact of Participation and Data in Genetic Research," featuring perspectives from Simons Searchlight and SFARI Researchers. Plus, don't miss the opportunity to learn about behavioral interventions for the Simons Searchlight Community in our Q&A with Dr. Cora Taylor. Watch HERE and enrich your understanding of these significant topics!
"No research without action, no action without research."
