Our son Cooper has been diagnosed with Mosaic Cri du Chat syndrome recently, he’s 19 months old.
So far he has no major symptoms other than delays in hitting his milestones; he sat up at 8.5 months, crawled at 14.5 months, and is pulling to stand and cruising now but not walking or standing without holding on to something for support yet.
He doesn’t say anything other than ‘ta’ for thank you, and ‘Adder’ for our dog Baxter. He has glue ear and is being referred to an ear nose and throat specialist and may have grommets fitted in the near future, and he suffers from constipation.
We’re early on in our journey so still have much to learn about Cooper’s condition, we don’t yet know an exact percentage of cells showing the deletion or the size of the deletion, but it’s thought to be around 50-80% of cells affected. We’re awaiting more detailed blood results.
He is very happy, always laughing, crawls at 100mph, seems to understand every word I say (can go and get a specific toy I ask for, loves certain TV shows, dances to music, likes being read too etc so is not too dissimilar to any other toddler of his age).
We are hoping the affects are mild but know virtually nothing about mosaic-ism and would love to hear from other parents or people with a mosaic diagnosis.
