Asher’s Story 

Born: 2014 

Country: Canada 

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Journey to diagnosis​

Our journey toward a diagnosis began when we noticed early on that Asher was falling behind in his development. He faced challenges with both gross and fine motor skills, struggled with coordination, and didn’t start walking until after the age of 2 years old. His speech development was also delayed, and he remained small in stature, barely maintaining the 3rd percentile for weight, with noticeable low muscle tone. As he reached school age, academic difficulties emerged, along with challenges in forming friendships.

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We shared our concerns with doctors, and Asher was initially diagnosed with global developmental delay. However, as the years passed and he entered school, his delays persisted, affecting his learning, social interactions, and adaptive skills.

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At the age of 7, we received genome-wide sequencing for Asher, which ultimately led to the diagnosis of CUL3-related neurodevelopmental disorder. It was overwhelming at first, but having a diagnosis finally brought us the clarity and direction we needed.
 

Current challenges

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We continue to navigate the world of speech therapy, occupational therapy, physiotherapy, IEPs at school, and advocating for our son's needs. There is still so much we don't know about CUL3-related neurodevelopmental disorder, including how it will affect Asher's physical, cognitive, and psychological health as he grows older. At times, concerns arise, and it can be unclear whether they are related to or worsened by his CUL3 condition. As parents, this is especially challenging since so little is known about the intricacies and complexities of the CUL3 gene not working as it should and how it impacts the body. ​

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Reflections & hopes for the future

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As we look back on our journey, we feel so grateful for the progress Asher has made. Every day, he amazes us with his resilience and his bright, positive outlook. His sweet, empathetic nature is truly special, and he’s always full of smiles, laughter, and a playful sense of humor.

We are thankful for the ongoing support from other CUL3 families and remain dedicated to advocating for increased research and resources for families like ours. We also look forward to the day when Asher can meet other CUL3 kids and share in that special connection.

(Last updated: In 2024; age 10)