I joined the 100,000 Genomes Project last week by donating blood samples at Kings College Hospital, along with my sister & one of my children.
I have hypoplastic bone marrow without recognized genetic abnormalities so I haven't officially been diagnosed with AA or MDS.
The UK National Health Service funded project, aims to sequence 100,000 human genes & identify those contributing to rare disease & cancer. I believe similar research is to take place in the US. This research will give hope worldwide for children & adults living with rare & undiagnosed conditions.
I'm personally hoping for an explanation for my apparent marrow failure - To know if & how it might progress concerns me.
It's also exciting to be part of a project at the forefront of medical science, that will shape the future of diagnosing & treating rare diseases & cancers.
For more info, there's a Facebook page 'Genomics England' also an easy to understand & informative website
www.genomicsengland.co.uk
I have noticed one or two forum users on here with a similar blood & marrow status as me - without a firm diagnosis? If so, & you are in the UK, you may be of interest to the project & could ask your doctor to refer you!
It could be months before I have any information. I've sort of resigned myself to never really finding out but I think this is my best chance to date!
As soon as I hear anything, I will let you all know