100,000 genomes project

[planetzed]

I have been invited to take part in this project because my brother has severe cerebral degradation. I have ataxia symptoms as well after a series of seizures left me in intensive care for four days in December 2013.

Having received the R1 form, and having studied it carefully, I'm not sure what to do next as it doesn't actually tell you anywhere. I looked at the projects' website as well with the same result. There is some information regarding a consultation with a clinical team where consent forms are signed, but not how to get to that point.

Do I just have to get in touch with my gp to set the ball rolling?

I'd be interested in hearing from anyone who has taken part in the project.

Cheers,

Julian.

[cocoa]

I have just signed up this week. I have had ataxia for about 10 years, so the procedure is probably different for you

I had a referral by my consultant at the Ataxia Clinic. Then I received the relevant paperwork and had a telephone consultation and signed the forms and put them in the post.

Does your brother attend an Ataxia Centre? They should be able to help.

[planetzed in reply to cocoa]

Hi, thanks for the reply.

Thinking about it logically, the invite did come from either my brothers ataxia centre or his medical team in Sheffield or Hull.

Perhaps I should just call the genome project.....

J.

[Daisychain18]

Hi, I was signed up to the 100,000genomes project through my neurologist at Sheffield and the genetics team I’m under then got my parents involved through a referral from their gp. Hope this helps. Good luck

[jeromekern]

I was signed up at the London Ataxia Centre about two years ago, I've had Sensory Ataxia for 10 years now, it started when I was 77 yrs of age.

[sheild]

Contact the team that referred you, they should organise for your bloods to be taken. Don't expect it to be too speedy, it may only be 12 months for the this round of bloods, whereas those of us on the first round are still waiting more than two years later.

[suzie44na]

Hi planetzed, I joined the study referred by my neurologist. Then we filled in the forms and then had the bloods done. It took almost two years for the results, and they are still not sure about my diagnosis. They just found a gene variant on the PNKD gene which does not match my symptoms. They said my gene will be tested yearly when new things crop up.

Good luck

Suzie

[cjpotter]

Hello

My daughter is part of this study we are 2 years in and a diagnosis or even likeness to any other known conditions have yet to crop up.

Having said that I think reading the information that it is a fantastic study that will help many just not all. You have nothing to lose by signing up. We got signed up by my daughter's neurologist arranging someone to come and take samples of her and our blood.

Hope this little info helps you.

Wishing you all the best.