The story of Cyrus
This past November, our baby son Cyrus was diagnosed with a rare genetic disorder called Aicardi-Goutières Syndrome (AGS). His condition is caused by a mutation in the TREX1 gene, leading to excessive inflammation and an autoimmune attack on immune cells and the conductive myelin. AGS usually results in significant intellectual and physical disabilities, often leaving children non-verbal and unable to walk. While the severity varies, Cyrus has an early-onset, aggressive form called AGS1.
At around six weeks old, Cyrus began crying constantly, hardly sleeping and having episodes of random fevers. Many trips to pediatricians and urgent care reassured us as they attributed it to colic—but deep down, we felt something more was happening. Finally, during a hospital stay following a meningitis scare, the neurology and genetics teams grew concerned when they learned of his constant distress and delayed milestones—he had stopped learning anything new since around two months old. A rapid genome test revealed that both my husband and I are carriers of the TREX1 mutation, confirming the AGS diagnosis. This was extremely painful news, but we vowed to pick ourselves up, get him all the care, medications, and therapies possible, and, most importantly, surround him with love and joy.
Now, at six months, Cyrus has started medication aimed at slowing the disease’s progression. We are fortunate for his early diagnosis, which has allowed us to intervene pretty quickly. It is still early days, but we are cautiously optimistic that he seems more comfortable and engaged with the world around him. While he continues to have low muscle tone and impaired motor skills, he is clearly determined and works hard – his tummy time is improving, he is trying to coo and communicate more, and he loves flashing his big smile. His cheeky personality is starting to come through. We don’t know what the future holds for Cyrus, but I am beginning to hope he might surprise us all.