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Malachi's Story 

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Born: 2019 / Age: 4

Country: United States 

Journey to diagnosis

When our son Malachi was a baby, he experienced some developmental delays that required early intervention. Rolling over was among the milestones he missed, and he faced challenges with sleep, leading us to seek help from a neurologist. At the age of two years, Malachi received a diagnosis of autism spectrum disorder.

GET TO KNOW MALACHI

Malachi loves to color, go on the swing, and listen to Cocomelon.  

His physical characteristics, such as a smaller stature and a larger head size, raised suspicions of Russell Silver Syndrome. To investigate further, we pursued genetic testing, which revealed a mutation in his CUL3 gene, leading to a diagnosis of CUL3-related neurodevelopmental disorder when he was three years old.

 

Since his CUL3 diagnosis, Malachi started having seizures and has been diagnosed with epilepsy. He has also been experiencing complications with his breathing during sleep. In addition, his growth has plateaued, as he has not gained weight in over a year.

   

We are working with doctors and specialists to manage these challenges, and we have had to be proactive in advocating for Malachi's health and pursuing additional testing.

Reflections & hopes for the future

 

Despite the obstacles he faces, Malachi remains a sweet and resilient boy. We continue to navigate this journey, seeking the best possible support for him and providing the care and love he needs to overcome the hurdles that lie ahead.

Last updated 2023

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