Lucy X

Age at diagnosis: 4

Brief Outline:

Lucy was diagnosed with primary ciliary dyskinesia at the age of 4. She hopes that taking part in genomics research will raise awareness and contribute to better provision for people with the same conditions.

Background:

Lucy works as a schools liaison officer and is white Welsh.

More about me...

Lucy was born with primary ciliary dyskinesia. She is prone to develop chest and sinus infections, and has situs inversus totalis, which means that her organs are in reversed position. The organ reversal doesn’t have much impact on her everyday life. However, the chest infections caused irreversible damage in her lungs, and she had to have half of her lungs removed. The infections usually come “in waves” though, so she has “a couple of months of good run” in-between. In her day-to-day life, she manages by eating healthy, keeping her airways clean, and avoiding places where she could be exposed to germs. Since her condition is very rare, she is not eligible for funding for nebulisers.

She was referred the pilot of the 100,000 Genomes Project by her specialist, and she was keen to take part to raise awareness about her conditions. Participating in medical research is not a new experience for her, and although she is aware of the general risks with regards to data protection, she is not particularly concerned. She wouldn’t mind her samples being sold if that could contribute to better provision for people with the same conditions. 

Lucy has been moved from the pilot to the main study. She hasn’t received any results yet. Although she isn’t sure whom to contact about her results, she thinks it wouldn’t be difficult to find contact details online.

The possibility of finding out about other genetic conditions she may have doesn’t particularly worry Lucy, since she’s been “diagnosed and re-diagnosed” all her life. She believes that the results might influence her decision whether to have children in the future, but other than that, she doesn’t expect any further impact on her daily life. She’s always had atypical symptoms, and although she used to think having a diagnosis would help, now she thinks she will “deal with the problems as they come up”.

Lucy X talked to her mum before deciding to take part. While Lucy X wanted to know the results, her mum was less sure she would want to know if the results suggested Lucy X might have a serious illness.

Did you talk to your Mum about taking part? Was it quite a big discussion? Or did both of you just say "We'll just take part"?

She'd always seen - when I was little - she would always take me, and I'd be the kind of guinea pig at the doctors. You know, where they listen to your chest, and things like that. So she's really supportive of research. I did talk to her about it. I think the biggest thing wasn't necessarily do we take part, it was more - she wasn't sure whether if they found anything that could be serious or indicative of something else, she wasn't sure if she wanted to know. Whereas I knew I wanted to know. So I think that was just the hardest one.

Do you know what she decided in the end?

I think she - I don't know. I think she went for being told if there was something. But I think the chances - I guess there is always the chance that if I was told something, and told her, she'd then maybe know she also has some problem. But yeah, I think she went - I think she agreed in the end.

Both Lucy X and her mum gave a blood sample separately. She describes it as “a bit of an anti-climax”.

I just - one day they asked me whether I would be part of it, and that it was really easy, and you don't really have to do much. So I quite - I don't mind sort of taking part in medical things, I think it's quite important to sort of raise awareness. So, yeah. So, agreed. And that was it.

And what happened? So, what happened?

[Laughing] bit of an anti-climax, to be honest. Because they just came, they just took my blood, like any other blood test really. And then they had to take a sample of my Mum's blood as well. But because I was in [Town], but I'm from west Wales, so my Mum's there. So, she just had a blood test at the doctor, and they sent it off. My Dad died when I was younger, so sort of there was only one parent that could give the blood to go for it. But yeah, both of us found it really, really easy.

Lucy X has lost the original information she received a few years earlier when she participated. She now doesn’t know who to contact about her results or withdrawing.

Was the information helpful, or is there anything you would suggest could improve it?

It's a couple - it was a good couple of years ago now, so I can't quite remember. I think - so it was just a piece of paper that I definitely lost, from moving from place to place. It was helpful. I remember there was a lot of information to chew through. I think the only thing that I would have preferred was to have more kind of - so I don't really, I don't really know who to contact if I want to find out about any results from it. Or, and because I've moved address, I - I'm not quite sure. I think I'd have to go back to the hospital that discharged me, find out through them. Hope that the person is still there, or something like that. So it's just - I think the only thing I would say that could have been improved was some interim contact. Or just knowing - yeah, just some information about who to go if you've got more questions. I know I can call my sort of - I can withdraw permission for them to use my, use the blood or use the information. But I don't know I'd contact that person.

Lucy X feels positive about taking part and felt all she had to do was “just give away a little bit of blood”.

Most people with a rare disease have had several blood tests. That's really what I see it as. And I think because you have the option of being able to be informed about whether they find anything sort of not so great, you could opt out of that. So all you've done is just give away a little bit of blood which you would give anyway for a blood test. But on the other side, so if you're maybe - if you're more like me, I really wanted to know, is there anything else that I need to think about, or? Yeah. Is it going to contribute to how I'm being diagnosed? So, I think it's something to just think positively about. Yeah.

Lucy X would like Genomics England to stay in touch as she says ‘you don’t forget that you’ve taken part’.

Is there any messages that you would give to Genomics England, the 100,000 Genomes Project?

Mmm, stay in touch [laughing]. Please get in touch, let me know. I don't know. I think also feeding back to people. Like you don't forget that you've taken part in the study, and you hear it on the news a lot. But I think when I went to this Rare Disease day - and that was in Wales, so presumably - I don't think, I don't know if Wales are taking part in a different one, but hearing this speaker talk about everything that had been, you know, that you could now screen for, that was really kind of moving. And then - and then you feel incentivised to contribute more, sort of in future studies and things like that. Because you feel that you're giving back into something that's going to tell people more about health, and – yeah - and help people sort of get a faster diagnosis, hopefully.