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Asher’s Story 

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Born: 2014 / Age: 10

Country: Canada 

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Journey to diagnosis

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Our journey to diagnosis began when we first noticed Asher was behind in his development at a young age. He struggled with gross and fine motor skills and coordination, didn't walk until after the age of 2 years, and his speech was slow to develop. He was also of small stature - just barely staying on the 3rd percentile for weight - and had low muscle tone. 

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We took our concerns to doctors, who initially diagnosed him with global developmental delay. But this diagnosis did not tell us the underlying cause of his issues, and we felt there was more to the story. 

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When Asher was 7 years old, we finally had genome-wide sequencing conducted, and it was then that we received the diagnosis of CUL3-related neurodevelopmental disorder. It was certainly a lot to take in, but finally having a diagnosis gave us a sense of clarity and direction. 

GET TO KNOW ASHER

What do you like to do?

"I like to play Nintendo, Roblux, watch YouTube videos, and spend time with my family."

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What's your favorite game? 

"On my Nintendo, my favorite games are Minecraft and Kirby and the Forgotten Land. If it's a boardgame, I really like Candy Land." 

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What's your favorite holiday and why? 

"Halloween, because I love dressing up in costumes." 

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If you could go anywhere in the world, where would you go? 

"I would go to Australia  because all of the wildlife seems really cool."  

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If you could invent anything, what would it be? 

"Time travel." 

​​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 gets older. Sometimes concerns arise for which there is a lack of clarity on whether or not something is due toor exacerbated by his CUL3 condition. This can be very difficult for us as parents since so little is known about the intricacies and complexities of the CUL3 gene not working as it should and how it impacts the bosy. 

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Reflections & hopes for the future

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As we reflect on our journey, we are grateful for the progress our son has made. He continues to surprise us everyday with his resilience and positive attitude. Asher has an incredibly sweet demeanor and is very empathic. He is super happy and you will always find him smiling, joking, and laughing about something.

 

We are grateful for the continuous support that we have received from other CUL3 families, and we are committed to advocating for more research and resources for families like ours. We also hope for Asher to meet other CUL3 kiddos one day soon!  â€‹

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Last updated 2024

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