A trustee of the main organisation supporting people with my condition presented on the topic to a group of senior healthcare professionals this week.
They spoke about the lived experience of people with the condition. About common comorbidities, learning difficulties and infertility.
Yet of the nearly fifty healthcare professionals in attendance, none reported having heard of it at all.
This may make it sound like an extremely rare condition. In fact, it’s one of the most common chromosomal variations there is, about as prevalent as Down’s Syndrome.
It’s not rare, just rarely diagnosed and almost entirely unacknowledged except amongst a small minority of specialists.
The best hope for those endowed with the condition is to actively engage in self care, seeking and implementing coping mechanisms of their own.
We’re an insignificant demographic, unknown.
Last modified: 22 September 2024
