The Boychucks’ Journey with MED13L

What is your family like?

Our family is a close-knit, lively bunch living in a northwest suburb of Chicago. At the heart of our family is Collin, 2.5, surrounded by his two older brothers, Mac, who’s 7, and Jack, aged 5. They share a special bond, often found playing and exploring together. Adding more joy to our household is Hank, Collin’s beloved furry friend, who’s more than just a pet but a cherished family member.

What do you do for fun?

For fun, our family enjoys a variety of activities that keep us active and connected. We love supporting Mac and Jack at their sports events, cheering them on and celebrating their efforts. Collin participates in aqua therapy and equine therapy, which are not only beneficial for him but also bring us joy to see his progress and happiness. Summers are a special time for us; we cherish our days at the beaches on Lake Michigan, where splashing in the water and playing in the sand become the day’s highlight. These moments by the lake are our favorite.

Tell us about the biggest hardship you face.

Our biggest challenge as a family is navigating the complexities that come with Collin’s inability to communicate through speech. This has a profound impact on how we interact and connect with him, and it often requires creative and patient approaches to understand his needs and expressions. Additionally, our lives are significantly structured around Collin’s therapies, which, while necessary and beneficial, are demanding in terms of time and scheduling. Balancing these therapies with the needs of the entire family, and ensuring that each member gets the attention and care they need, is a constant juggling act.

What motivates you to participate in research? 

Our motivation to participate in research stems from a deep desire to learn as much as possible about MED13L. This commitment is driven by the hope that increased knowledge can lead to better support and treatments for Collin and others like him. Participating in research has been incredibly beneficial for us. It has not only expanded our understanding of MED13L but has also connected us with other families facing similar challenges. These connections have been invaluable, providing us with a sense of community and shared experiences.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes? 

We believe we are significantly contributing to Simons Searchlight’s understanding of rare genetic changes by actively participating in every research opportunity available to us. Furthermore, we extend our impact by promoting these research opportunities through our social media platforms, specifically targeting the MED13L community. This not only aids in gathering more comprehensive data for the research but also helps in building a supportive network among families dealing with similar genetic conditions.

What is one question you wish researchers could answer about this genetic change?

One question we deeply wish researchers could answer about MED13L is how specific genetic changes within MED13L influence the range and severity of symptoms observed. Understanding this could pave the way for more targeted and effective treatments and interventions, and provide a clearer prognosis for those affected by MED13L. This knowledge would be invaluable not only to medical professionals but also to families like ours, as it would help in managing expectations and planning for the future.

What have you learned about your or your child’s genetic condition from other families?

From interactions with other families, we’ve learned the importance of utilizing an Augmentative and Alternative Communication (AAC) device for children with MED13L, and the benefit of starting this early. This insight has been invaluable, as it not only offers a practical tool for communication but also emphasizes the significance of early intervention in supporting our child’s development and ability to express themselves.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

For someone recently diagnosed with MED13L, it’s crucial to register with Simons Searchlight and speak to a genetic counselor there. Participate in their research – it’s essential for uncovering answers about MED13L. Additionally, join and be active in the MED13L Foundation community. This dual approach of engaging with scientific research and connecting with a community of peers provides a comprehensive support system, offering both scientific insights and personal experiences.