As many of our regular readers will know, the last day in February is always Rare Diseases Day. Since 2011 it has been marked in Scotland by very well attended receptions at the Scottish Parliament organised by the Genetic Alliance. This year’s event was held last night.
It is always extremely humbling to attend Rare Diseases Day events. The vast majority of the conditions represented can only dream of the levels of treatment and care available for rare bleeding disorders. In most cases it is takes years of battling to even to get a diagnosis. Often there are only one or two interested clinicians in the whole of the UK and precious little effective treatment. The patients and parents who attend events like this have often had to build their patient group from scratch.
This year there was plenty of good news about the advances in genetic sequencing and the exciting possibilities being opened up by the pace of change in Clinical Genetics. We also heard about how the barriers to effective research in rare conditions can be overcome. The Scottish Government were commended for their efforts towards implementing the UK Rare Diseases Strategy and Shona Robison MSP, gave a detailed report on the progress which has been made.
However, the most powerful contribution was made by Rebecca Holmes from Ehler Danlos Support UK (EDS UK). She spoke about the experiences of people living with EDS and explained many of the typical symptoms. She spoke out against the frustrating amount of misinformation that those affected had to overcome and called for a clear care pathway. It was a salient reminder that while there has been some amazing progress in recent years there is still work to be done.