By swan uk member and parent rep for bristol, louise james
Scott is now six years old and sometimes he can look like any other six-year-old … only he is not.
Scott has taken a very different path. We fondly refer to him as ‘wonky’. This is simply because things are never straightforward. It was at 12 hours old that he began to have episodes of Cyanosis, followed brief episodes of strange movements. This is when the testing started: bloods, scans and wires all telling us the same thing … ‘normal’, yet things were clearly far from normal.
At 13 months it became clear that Scott was developing very differently from his peers. After another long spell in hospital his epilepsy was diagnosed and our ‘team’ of services began.
By the time Scott was two he had severe epilepsy, global developmental delay, cortical visual impairment, low tone, hypermobility, funny features (dysmorphic), sensory processing disorder, a slightly dodgy heart and a lot of people scratching their heads!
We now know that having a diagnosis will not significantly change our life but we hope it gives us a greater sense of what to expect. No diagnosis for us means no prognosis. For our family and the thousands of families like us, having a diagnosis can help identify potential treatments for health issues that need to be monitored in the future. Without a diagnosis it’s impossible to know if Scott is just a ‘one off’; will our other children be affected by the same unknown condition? SWAN UK offers hope to us and all the families like us – a chance to gain knowledge and maybe some understanding.