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.

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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.