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Asher's Story 

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Born: 2014 / Age: 9 

Country: Canada 

Journey to diagnosis

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. As he got older, we noticed that he wasn’t meeting some of his cognitive milestones either. In addition, he often had trouble forming relationships with his peers. 

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.

GET TO KNOW ASHER

Who is your favorite superhero and why? 

“Thor because he has a lightning hammer.”    

 

What’s your favorite game? 

“My favorite game to play on my Nintendo is Pokémon Legends: Arceus.“

If you could invent anything, what would it be? 

“I would try to invent a real-life Pokémon”, 

 

What’s your favorite holiday, and why? 

Halloween, because I love dressing up in costumes.” 

 

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

“Australia, because all of the wildlife seems really cool.”

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 of take in, but finally having a diagnosis gave us a sense of clarity and direction.

 

Since then, Asher has also been diagnosed with level 1 autism spectrum disorder, another condition consistent with his CUL3 diagnosis. He has also been found to have a skeletal abnormality of his first rib. 

 

Current challenges

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 to or 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 body.   

 

Reflections & hopes for the future

 

As we reflect on our journey, we are grateful for the progress our son has made. He continues to surprise us every day 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 and laughing about something.

 

We are so 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! 

Last updated 2023

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