Posted by: Inon Shampanier
Friends,
I wanted to take this opportunity to share our family’s MED13L story and express our profound gratitude for the MED13L Foundation and organizations like RARE-X that support the Foundation in advancing research.
Our son, Ilan, is a sweet, smiley, and fun-loving 11-year-old boy living with MED13L syndrome. Diagnosed at the age of 2, almost a decade ago, his diagnosis came at a time when the first research publications on the syndrome were emerging. This prompted me into a relentless quest for potential interventions and treatments that might alleviate Ilan’s genetic condition. I reached out to every researcher, neuroscientist, geneticist, pharmaceutical company, and even a Nobel Laureate in medicine who had any connection to MED13L. Despite learning a great deal, the consensus was disheartening; there were no available interventions then, and the outlook for future advancements was bleak.
Despite this, my wife, Natalie, and I chose to focus on enhancing Ilan’s life through speech, occupational, physical, and behavioral therapies. We found solace in his happiness and overall health, especially when juxtaposed with the struggles of other children we saw at the Children’s Hospital.
My hope for medical breakthroughs waned for years but was reignited by the dedicated team at the MED13L Foundation and the Cure MED13L Network. Discovering a community of parents, more versed in the science and industry mechanics, actively pursuing a cure was immensely uplifting. My gratitude for their commitment, time, and resources is immeasurable.
However, gratitude alone is not enough. As a community of MED13L parents, we must actively support the foundation and research-promoting initiatives. Our children deserve no less.
Data collection is vital for research progression. We now have an opportunity to contribute through the RARE-X Data Collection Platform. Participating is simple—completing surveys and sharing de-identified information can significantly aid the MED13L Foundation and the dedicated scientists supporting our cause.
Please take a moment to log in and fill out the initial comprehensive survey. If you’ve already participated, encourage another community member to do the same.
Our unity is our strength. More than nine years ago, we were among the first MED13L families to join the Simons’ Searchlight study and parent group. From a small group of under ten, our community has grown to over a thousand members. Imagine the impact if even 100 families joined the RARE-X program. Let’s make this step towards our collective goal—for our children.
Thank you,
Inon Shampanier
