Cooper’s life began with an unexpected start—his first five days were spent in the NICU due to pneumothorax and subsequent failure to thrive. It was clear from the beginning that something was different.

Despite being released with no clear answers, Cooper’s journey to a diagnosis started early. At just two months old, he was referred to Stanford Hospital Genetics, beginning a long path filled with tests, specialist visits, and countless uncertainties.

For the next seven years, our family worked tirelessly to uncover the source of Cooper’s unique challenges. We navigated blood draws, scans, and consultations, all while facing an absence of answers. At the age of seven, after exhausting every option, Cooper’s geneticist recommended that he join the Undiagnosed Disease Network (UDN). This step meant new rounds of evaluations, sample collections, and the hope that whole genome sequencing would offer a breakthrough.

After years of waiting, when Cooper turned 14, we finally received the news that would change our lives:

A diagnosis of ReNU syndrome, linked to the RNU4-2 gene—a newly discovered condition.

Through Cooper’s story, we want to inspire hope, connection, and a push for progress. Our sweet, resilient boy has a story worth telling—a story of challenges, love, and the incredible ability to find joy in the simplest of moments.

Living Without a Diagnosis

Before Cooper’s diagnosis, life was marked by uncertainty and constant challenges. Routine medical check-ups and unexpected symptoms often left us in limbo, unsure if they were related to an unknown condition or were everyday issues. Cooper faced a unique set of difficulties: undergoing tests that were difficult for him, managing appointments with a limited ability to communicate, and struggling with the touch and change that doctor visits brought.

For our family, the absence of a diagnosis was a barrier to accessing services and insurance coverage. It made planning for Cooper’s future a challenge and left us without a community that could share in our experiences. Advocating for Cooper’s care often required persistent efforts to be heard and taken seriously, with few clear paths for treatment or intervention.

The Diagnosis and Its Impact

The moment we received Cooper’s ReNU syndrome diagnosis from the UDN team was a whirlwind of emotions. An overwhelming sense of relief soon followed the initial shock. Connecting with an online community of families navigating the same diagnosis was a moment I’ll never forget. Seeing other children like Cooper, I felt seen and understood for the first time in years.

With this diagnosis, we finally had a foundation to build on. Cooper’s doctors gained a clearer framework for understanding his needs and addressing our concerns. For Cooper, this has meant more tailored support and a deeper understanding of his medical and developmental profile. It has allowed our family to start finding answers and share in a community we never thought we’d find.

Life with ReNU Syndrome

ReNU syndrome touches every part of Cooper’s life. At 14 years old, Cooper faces severe intellectual disability and global developmental delay, requiring complete assistance with daily activities like eating, bathing, and dressing. His non-verbal communication relies on gestures, eye contact, and tools to express his needs, which can be frustrating for him and challenging for us.

Cooper's orthopedic challenges mean he walks only short distances with AFOs or relies on a wheelchair. He’s had multiple broken bones due to low bone density and life-threatening seizures. Despite these health concerns, Cooper’s spirit shines through. His infectious laughter, love for simple moments like walks and watching bikes, and resilience remind us daily of his strength.

Cooper’s Strengths and Joys

Cooper is pure joy. He loves hugs, holding hands, and being surrounded by the people he cares about. His smile lights up the room, and his laughter is contagious, especially when he’s entertaining others. Whether shooting baskets or wearing a funny hat just to get a round of applause, he lives for the smiles and claps of those around him.

Cooper is delighted as he watches the wind move through the trees and is fascinated by the rhythm of bikes zooming past. These small moments highlight his unique ability to find wonder where others might overlook it.

Hopes for Awareness

Our journey with Cooper has shown me the importance of awareness and community. By sharing his story, I aim to reach families still searching for answers and help them find the support and validation we experienced. Increased awareness of ReNU syndrome can lead to more research, better medical understanding, and, ultimately, the development of therapies that could improve the quality of life for those affected. And just as important, experience and support from the broader community can lead to more empathy and resources for families like ours.