- 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.