There’s an old saying in the medical community, “when you hear hoofbeats think horses not zebras”. It generally refers to the fact that doctors should look for the common causes first not suspect the rare and unusual.
However for children like Immy, we are definitely not talking horses, infact even zebras with their distinctive stripes and recognisable traits are probably too common for a rare syndrome like 3p25 deletion. I think its more like a unicorn. Definitely not something you expect when you hear hooves, something most people don’t know exists and definitely something so rare most people will never see in real life. Our paediatrician was quick to tell us Imogen was his first 3p deletion case in 30 years as a doctor, and would almost certainly be his only 3p case in the next 30 years too.
Who wants to be a horse anyway?