100,000 Genomes Project

[Shazza]

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

[shellybean]

Hi, I was referred to Professor Marsh at King's College too. I saw her yesterday and she told me about the 100,000 genomes project and said I may be a candidate. I have no diagnosis but they have ruled out aplastic anemia, but MDS hasn't been ruled out yet. They are currently trying to determine if I was born with a faulty gene as my telomeres on my chromosomes are too short. Is this something they said to you too?
If they can't find a diagnosis for me then I will be joining this project.

[Shazza]

Hi Shelleybean,

We certainly tread a similar path. I saw Professor Marsh on Wednesday 5th April so missed you by a week!

I was told my telemore lengths were normal about a year ago but they took extra blood last week to retest them - didn't realise telomeres changed!

I honestly think the 100,000 Genomes Project is our best hope of a diagnosis. I'm expecting they'll identify my possible faulty gene when compared to my healthy son & my sister's. I'm told the process could take months, possibly years as they're working to identify genes.

Mine & my families blood was taken in January & I was naively hopeful they'd have some news for me whilst I was at Kings last week but no 😐

I'm sure you'll recognise it's a pain having a condition that makes you feel pretty rubbish at times & there's no explanation. It's usually easier to say "I'm fine" when people ask how I am because they'll probably lose interest if I attempt to explain!

Apart from this amazing support group & because I'm not sure quite where I fit in yet, I am a member of 'UK Neutropenia Support', 'MDS UK Community' & 'Aplastic Anaemia Trust - Support Group'. These are all 'closed' Facebook communities who I feel I can identify with! I had to explain to them why I wanted to join which makes it more likely to be private/safe. They are all very informative so you may be interested.