Last year, we were approached to submit an essay for the American Journal of Medical Genetics discussing the work we’re doing at the foundation. Kate Wears, our Executive Director, jumped at the chance to raise awareness and share the foundation’s mission with a wider audience.

Thanks to Dr. Angela Lin and Dr. Lois Starr for partnering with Kate and guiding her on the medical content. Read the abstract below or view the full article here.

“Advocacy support groups grow into national and international organizations, but they all begin with personal experiences. As the parents to a newly diagnosed two-year-old son with Myhre syndrome, my husband and I were overwhelmed with the journey ahead. Thanks to networking, primarily through social media, we located other families living with Myhre syndrome and were quickly immersed in the challenges and joy of this community. Myhre syndrome, caused by pathogenic missense variants in SMAD4, is a rare connective tissue disease characterized by short stature, hearing loss, neurodevelopmental challenges, and fibroproliferation.

This personal essay, written with physician partners, describes the development of a global advocacy group for patients with Myhre syndrome. I have the honor of serving as the founding Executive Director and reflect proudly on the great strides that our marvelous support group has made. We empower the global community impacted by this rare condition by providing meaningful and accessible data, educational opportunities, and connections with others going through similar experiences. Utilizing the expertise of our Board of Directors and my corporate expertise, we discuss how we have been able to elevate our ultra-rare community into a broader, more comprehensive network.”

From left, Kate, our Executive Director, with Board Members Susan, Kathy, Mary, and Anna (Kathy’s daughter and Mary’s sister).