Home         Forums  

Go Back   Marrowforums > Bone Marrow Failure Diseases > Bone Marrow Failure
Register FAQ Search Today's Posts Mark Forums Read

Bone Marrow Failure Causes, treatment approaches, terminology, related diseases

Reply
 
Thread Tools Search this Thread
  #1  
Old Mon Jan 30, 2017, 01:52 PM
Shazza Shazza is offline
Member
 
Join Date: Jul 2013
Location: United Kingdom
Posts: 22
100,000 Genomes Project

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
__________________
Neutrophils fluctuating between 0.8 & 1.7 since 2000.
Hypoplastic bone marrow (10-15% cellularity).
No cytogenetic abnormalities.
Reply With Quote
  #2  
Old Thu Apr 13, 2017, 09:22 AM
shellybean shellybean is offline
Member
 
Join Date: Nov 2016
Posts: 12
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.
Reply With Quote
  #3  
Old Mon Apr 17, 2017, 10:32 AM
Shazza Shazza is offline
Member
 
Join Date: Jul 2013
Location: United Kingdom
Posts: 22
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.
__________________
Neutrophils fluctuating between 0.8 & 1.7 since 2000.
Hypoplastic bone marrow (10-15% cellularity).
No cytogenetic abnormalities.
Reply With Quote
Reply


Thread Tools Search this Thread
Search this Thread:

Advanced Search

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

vB code is On
Smilies are On
[IMG] code is On
HTML code is Off
Forum Jump

Similar Threads
Thread Thread Starter Forum Replies Last Post
Citizen of that other place: My MDS online art project. lacanada1 MDS 2 Thu Jun 28, 2012 06:12 AM
Project 10tothe100 Alex News and Events 0 Fri Sep 26, 2008 03:13 AM


All times are GMT -4. The time now is 03:45 PM.


Powered by vBulletin® Version 3.6.7
Copyright ©2000 - 2018, Jelsoft Enterprises Ltd.
Forum sites may contain non-authoritative and unverified information.
Medical decisions should be made in consultation with qualified medical professionals.
Site contents exclusive of member posts Copyright 2006-2016 Marrowforums.org