Sharing Emerson’s Journey with Dup15q syndrome

Our journey as a family took an unexpected turn just before Emerson turned three. Like many others, we were navigating the challenges of the Covid pandemic when we received news that would forever change our lives. Emerson was diagnosed with autism, and it was during this time that we were invited to participate in a lifelong study exploring the genetic links between autism and DNA. That’s when we learned that our sweet little girl had a rare genetic condition called Dup15q Syndrome.

Dup15q is caused by the duplication of a segment of chromosome 15. It comes with a range of challenges, including developmental delays, low muscle tone, intellectual disabilities, autism spectrum disorder, and epilepsy. Our hearts sank when we found out that I, as Emerson’s Mom, was a carrier of this condition. This means there’s a 25% chance that our future children could also be affected, which has made us question our dream of growing our family.

Over the next year, we worked tirelessly, visiting over a dozen specialists, conducting tests, and ensuring that Emerson was receiving the best possible care. After all of that, we were incredibly relieved to hear that Emerson is otherwise healthy. Her neurologist and pediatrician continue to work closely with us to ensure she thrives.

Although Dup15q Syndrome is rare, we’re grateful to have found a small local community of families who share similar experiences. Together, we support each other, learn from each other, and advocate for awareness and research.

Our mission now is to raise awareness and funds for the Dup15q community, and for all the children like Emerson who face these challenges every day. We hope to contribute to a brighter future for these incredible kids, giving them the resources, care, and support they deserve.

Thank you for joining us on this journey and helping us make a difference.

With love and gratitude,

Devon, Emerson and the Kaub Family