It is surprisingly common with c.6000 children born every year with no underlying identified diagnosis – most of whom will have a genetic disorder of some description
This number will drop as the amazing progress in genetics advances with many of us enrolled on studies such as the Deciphering Development Delay or 100,000 Genomes projects
However a diagnosis for GG would now be so rare that it will likely have little meaning in the short term in terms of giving a prognosis
Despite the volumes of undiagnosed children – as high as 100,000 in the UK alone – many professionals are still unaware that this is an issue
In the early years we are often grouped under a generic ‘Global Development Delay’ catch up – even we thought this was a diagnosis to start with but in fact it turns out to be a name given to those with no other label
It is incredibly isolating being the parent of a disabled child, being the parent of a disabled child minus a diagnosis can be even more lonely
We can fall between the cracks – no diagnosis means no pathway and therefore services can be hugely disconnected and difficult to navigate
There is never enough room on the vast array of forms to complete the section titled ‘medical condition’ – our unique array of medical and developmental issues will often fill a page not just a small box
No diagnosis means no prognosis which means no limitations on what our children can achieve – medical professionals will offer a view but our children are fabulously expert in proving them wrong!
We do have our own support network – Swan UK (Syndromes without a name) which for most of us becomes like an extended family, a safe place to go (virtually) and usually someone will have been where you are.
