I was a bit blown back by it all at first, bit blown away. Because I’d obviously never heard of it. So yeah, I was a bit

So it’s completely new to you?

Completely new, yeah. Yeah.

And did you find the information that you were sent understandable?

Not at first. But by going onto Twitter, I searched it through Twitter, and somebody on Twitter – I put a question about, you know, I really have no clue about what it is. Even though I’d read the letters, it just didn’t sink in. So I spoke to – well, just sent a little message on the Twitter page that they have, and then somebody forwarded me a link which I think sent me to an internet link which explained in black and white, understandably.

So you hadn’t heard anything about the 100,000 Genomes Project before. Have you sort of noticed that you’re hearing more about it? Or are you still not, outside of your involvement?

I’m hearing more of it in on Facebook and Twitter.

Right.

Whether it’s because I search for it, I don’t know. But prior to that, I’d never – never seen it anywhere, never heard of it. There’s a few of the people in the forums that I go onto, regarding polycystic kidney disease forums, and there’s a few people that are on it. They also sent me forward to Birmingham Children’s hospital website, and then since being on there I’ve found them all talking about it, like all these other adults with children that are also put forward for it.

I’d heard whisperings about this genome project thing. But nothing, nothing hugely. I like to try and understand the conditions I’ve got. Because doctors don’t understand it greatly, so you tend to try and manage it yourself. I did have a look at the genome. Ideas of like, you know, the two cloned sheep and things like that, you know, do pop into your head. But I trust that it’s going to be used for the right purpose.

I believe that they’ve spent quite a few million pounds designing a building to hold the DNA. It’s being run by the government. As far as I’m concerned it’s for medical benefits, and medical benefit only. I don’t mind pharmaceutical companies, as far as they’re developing drugs to try and cure it or to manage it, or – cure is a weird word to use, but better drugs to manage it. Because people with EDS are like completely different to normal people. We react so differently to medicines and, and even eating food. Everything normal is not normal when you have EDS. Your body acts differently. So I trust them, that it’s going to be used for that.

Did you know much about the Hundred Thousand Genomes Project at that time? Had you ever?

No I think I’d read little bits about it in the media. Obviously because of my background, I tend to read more of the medical side of things [laugh], and I was aware of it. But it’s certainly not something I come across in my day to day work at all. My husband had certainly never heard of it at all. And most of the family have never heard of it at all. So we kind of thought it was interesting. We didn’t actually meet out geneticist face to face, she popped it in a letter for us. Which I think in some ways is good, because it gives you time to consider that, before actually you have to give a face to face answer. And it gave us time to do that research, to actually kind of say do we want to open this can of worms?’ So to speak.

Had you heard of the 100,000 Genome Project before?

No I hadn’t.

No?

No, no but I was certainly aware of cancer research and certainly aware of, you know, through family, my sons own academic experience of working in science. He would have talked about it quite regularly. So no the importance of looking and studying family genes and how that impacts on the development of the human body and the immune sources and where these cancers come from. You know the modern age we all understand smoking is not very good for you but we’re all beginning to understand that air pollution is not very good for you either is it. So we can’t live in a bubble so if everybody signs up for it we’ve got a better chance of, you know, being where we need to be but everybody has got to play their part haven’t they.

Yeah so it was sort of your family background has this knowledge kind of

Yeah

Scientific knowledge.

That’s right and obviously I’ve got an academic leaning, you know, pull for it and we understand the impact of cancer of the immediate family, lost my mother and in other parts of the family we’ve had people who have, you know, suffered great distress and we’ve all lost uncles and aunts and cousins and I don’t think we are alone in that are we? Every family’s experiencing the same.

A likely cure for PCD is genetic then we’ve known about what’s been going on in the worlds of genetic research all the time. So I think we were aware of it. So I can’t exactly remember. So it wasn’t a surprise when they mentioned it at [Eye hospital] because RP whilst it’s in Visual impairment is actually quite common. I think it’s the second most common form of visual impairment. It is still in the scheme of things quite a rare disease and therefore it qualified to go on to the Pilot. And I think provided they had enough people on the pilot then that would be taken forward into the main project. So I think we were aware of it. Because of with, you know, with the boys and myself the likely cure is genetic then obviously we take a very firm interest. So having been approached about, Would you like, would like to go on the study?’ The answer is, Definitely. And my parents will be, they were just as supportive. And our sons prior to that have already had blood taken to be sequenced as part of the PCD research as well. So I wasn’t the first in our family to be. That’s not connected with it, the separate exercise but it’s, I wasn’t the first one in our family to get involved in something like this.