Sheila and Edward

Brief Outline:

Sheila has mitochondrial disorder and several other long term conditions. Edward has Chronic Fatigue Syndrome and was diagnosed with Asperger syndrome aged 10.

Background:

Sheila and her son, Edward, are both White British.

More about me...

Sheila, her husband, and their 21 year old son, Edward live together. Sheila has been home schooling Edward, who is a musician, since he was 11. 

Sheila was told about the 100,000 Genomes Project by a professor and she got in touch with her local hospital to ask about becoming involved. She has mitochondrial disease as well as other long term conditions and finds it increasingly difficult to go out. Her son, Edward, was also invited to take part because he has Chronic Fatigue Syndrome that has never been fully explained. Both are very happy to take part and accept that their personal information will be shared through the project: Edward says, “You take your vaccinations, you take your blood tests, you give where you can”.

Although both Sheila and Edward are keen to contribute to medical research, they were surprised by the amount of blood they gave – five phials each. They have been told that they should not expect any results for two years. Neither of them are concerned about the potential commercial uses of their data “as long as it clear what is being done with it and it’s transparent”. Sheila also hopes that a cause for mitochondrial disorder could be discovered through the project.

More broadly, Edward feels that medical research is not widely known about and there should be more information available to the public.

Sheila and Edward think people the project needs to have a bit more “presence” and public awareness. People trust things they have heard about.

Edward: I think - I mean, if I had to say anything, it would just be more public awareness. People trust more things they're already aware of. I, I didn't even know about it until I was asked about it. You know, I was more than happy to take part in something that would benefit research. But I think it would be good if people generally - even if they're not going to participate - knew that it existed before they were potentially asked to sign up for it.

Sheila: Mmm.

Edward: Perhaps a little bit more presence. Even if it's just outreach to news media, or a newspaper, just so people know that it exists.

Sheila: Or even in hospitals –

Edward: Sort of gets rid of –

Sheila: - you know, if you go, you're aware that it's going on. You may not be invited, but you know it's there. Because if you don't really know about it -

Edward: But then it sounds like some sort of shadowy secretive organisation within an organisation. It just gets rid of that kind of mystique, if people know about it.

Sheila: Yeah.

Sheila and Edward are both keen to contribute to medical research and increase their own understanding of their conditions. Sheila says, “it’s completing a bigger picture.”

And what do you think the potential benefits are?

Sheila: Well the potential benefits are they actually isolate one of the defects that I've got which is linked to mitochondrial disease. And that would almost certainly help my position from an understanding point of view. I know there's no - there's no treatment for mitochondrial disease, and there's a limited amount of things you can do to treat some of the side effects. It's possible that I could develop epilepsy, so they could treat that. But they couldn't treat the cause of it, which is the mitochondrial. So, yeah. That would - It would help from that point of view, wouldn't it?

Edward: Mmm. From my point of view, I'm not a scientist and will never be able to partake in that kind of research. But giving something that might help someone else is the least I can do, really.

Sheila: And it would help any - Like if he went on to have children, or if it was inadvisable to, then he could take that decision.

Edward: But for me it was more about just the - I suppose the thrill of helping out a little bit. I mean, I - as I say, I'll never be able to do that kind of research. I'm an artist not a scientist. But it's just nice to imagine that it might make a difference somewhere, somewhere along the line, even if it's very small.

Sheila: Mmm. It's completing a bigger picture, I think, sort of from my side.

Edward: Mmm.

Sheila: And if there's other members of my family who are suspect, then we could - you know - say to them to get checked, it'd be worth it. It's I think more for the female line particularly, where you've got the greater risk carried, haven't you.

Edward: Although you can still be very unlucky and be that one guy who gets the dodgy x chromosome and then you get a double helping of whatever problem's going on.

Sheila: Yeah.

Edward: Yes.

Sheila and Edward aren’t worried about how their data might be used in future. As long as there is good communication and transparency about how it is used.

Edward: I have to say, sort of signing up - I imagined that the data that's created or found from, you know, sequencing the genomes, I imagine that's just going to continue existing. And it will probably eventually become public property. But you sort of imagine if you're giving blood to science, then it's going to get shared around. I mean, that's the point of it, really. And you can't do very much with something if you've got it under lock and key. So.

Sheila: Mmm.

And what about commercial uses? Would you be content for it to be used commercially?

Edward: Well I mean obviously it'd be nice to see some of the royalties first [laughing].

Sheila: I take the opinion if they can find anything useful in my blood, they're welcome. [laughing] People might find a cure for the common cold in there somewhere. It, it doesn't particularly bother us.

Edward: No.

Sheila: I think if you're sensible and you think about it, we're not really into the Frankenstein side of things here, are we? You know, that this is more common sense. 

Edward: Yeah.

Sheila: Let's just look at what you have got, kind of approach.

Edward: I mean, from my point of view, I don't really - I don't really mind in a way, if people make commercial use of genetic material, so long as it's clear what's being done with it and it's transparent. And so long as , you know, if somebody's genetic material is being used, then they are compensated, or they are informed accordingly. It makes sense, really.

Sheila: Communication, really.

Edward: Yeah. But we've not been - we've not been kept in the dark at any stage, have we.

Sheila: No. No concerns.

Sheila and Edward encourage others to take part if it is no more invasive than a blood test.

Sheila: If you're not afraid of needles, go for it. Basically. Because it's literally just donating a blood sample like you would for any hospital test. It's just that there's a few more phials to fill. If you can cope with that, which is not really that desperate.

Edward: It's not more invasive than a blood test, really.

Sheila: No. If you can cope with that, then there's really nothing to lose. That's how I see it.

When she started to take the blood - did she show you how much she was going to take, in terms of the number of phials?

Edward: Yeah.

Sheila: We saw the tray [laughing].

Edward: I have to admit, I didn't realise that it was going to be five phials each. I assumed that that was going to be between us, and maybe one spare. I was naive.

But it was alright?

Edward: Yes, it was - it was okay.

Sheila: He manned up [laughing].

Edward: There was no screaming, I promise.