Lucy Y

Age at interview: 39

Brief Outline:

Lucy Y has hypermobility Ehlers Danlos Syndrome (EDS), it affects collagen making it very fragile, which means that her joints and other soft tissues are prone to injuries and further conditions. Her initial reason to participate in the 100,000 Genomes Project was to find out whether the condition was passed down in her family, and whether her child inherited it and also for research as no DNA testing or treatment is available currently.

Background:

Lucy Y is an interior designer. She is married and has one child who is 12 years old.

More about me...

Lucy Y has hypermobility Ehlers Danlos Syndrome (EDS). As a consequence of her condition, she has gastro motility syndrome, postural tachycardia syndrome, and joint instability, which means that her knees, hips, and pelvis, etc. are prone to come out of alignment. She finds that “the condition itself is quite hard to live with because it’s always throwing something at you”.

Getting a diagnosis took time. Lucy Y has always been susceptible to injuries, but her joints became more vulnerable when she got pregnant. She remembers not being able to move by the end of her pregnancy due to pubis symphysis disorder, yet being told by doctors that it’s a frequent and mild complication. When her pains continued after five years, she was diagnosed with a variety of syndromes before her doctors established that she had EDS. They also told her that there was no treatment, and the most she could do is learn how to manage situations which could cause potential worsening of symptoms, and injury.

There are no tests that can directly confirm the type of EDS that Lucy Y has. Currently, it is only possible to rule out other forms of EDS. Lucy Y saw the pilot of 100,000 Genomes Project as a platform to do that. She was keen to support the research, and wanted to find out whether she was the first one in her family with EDS, or whether it has been passed down. Either would mean that her family members need to consider this when thinking about having children in the future. 

Although Lucy Y’s parents didn’t mind donating their blood sample for the project, Lucy Y thinks that her mother feels guilty about potentially having passed on EDS. Lucy Y understands because she feels the same about the future of her child. Despite this, Lucy Y feels that if her EDS was inherited, for her it wouldn’t have more significance than inheriting her hair colour: “it’s only part of the DNA that was combined by the two of them to make me”. Rachel knows that if her child is not tested, they would have to wait for symptoms to develop for a diagnosis, although this could be established through a clinical examination.  

Lucy Y has been moved from the pilot to the main study. She hasn’t received any feedback, despite her attempts to chase up her consultants. The lack of feedback frustrates her. Although she doesn’t regret participating in the project, at this point she feels as if she donated for charity. However, she trusts the project and the government to use all genetic information for the right purposes. She hopes that genomic research could help with future diagnostic processes, making it possible to identify EDS and other rare conditions earlier and with more precision.

Lucy Y had heard “whisperings” about the 100,000 Genomes Project, and understood it was about improving medical treatments.

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.

Lucy Y wanted to know more about how the data would be stored, and was concerned about the possibility of it being used for ‘the wrong reasons’ in the future.

I can imagine them being in like a big fridge-freezer system, being held in little test-tube bottles, and I have a little row for my little row of test-tubes. And hopefully it's a high security complex. That's the only thing that does worry me, is this whole what happens, future-future? Not necessarily now, because we haven't got the technology. In the future, what technology are we going to have, and what are we going to be able to do with the DNA? That's the only concerns for me, is in the future. Because it could be used for the wrong purposes. So that's why I hope it's held somewhere safely. Because, you know, a lot of the - unfortunately, things that they use in war, they release diseases and that kind of thing. You know? Nasty diseases. In an aggressive horrible manner. So therefore if you've got a collection of people with rare diseases and you've got all of their DNA stored somewhere, that's just something I'm concerned - which is why I did have a nosey, and it did say it had to spend an awful lot of money building somewhere to be able to store it all. 

It sounds absolutely crazy. But they could, they had on X-Files, they've had on CSI before, like murders done by people that are hypermobile that are so bendy they could put their arm in through the letterbox, and they - that, you know, could they take that DNA gene that is bendy, and use it to an advantage for some reason? You know? Could they take [sigh], find what the gene is that makes our muscles weaker, and our collagen weaker, and if they found that cure for that, could they then not use that cure to then bulk up people's muscles? Same as like steroids. So it's that. They have to be very careful with what they do with this information. And even with what they develop from the information. Because it could then be used for the wrong purposes again. Even if it's been, you know, made and used completely innocently. I think there's - there's - there's always a, you know, a consequence, isn't there. 

As well as progressing knowledge about rare conditions, Lucy Y wants to find out if other members of the family have the ‘faulty gene’ as there is no previous history of the condition in her family.

And that's why I used the genome project. It was - I have other members of my family that have dislocated joints, and bendy joints, and want to go down the route of having children. And if I can find out - because I'm the only one in the family that's got this condition. I had a Granny that had a muscular disorder, but in those days they didn't have EDS, and they didn't know about it. So I'm the only person that's displayed any symptoms, so we're trying to find out if it's me that's started it, or if it is actually in the whole family. In which case the other members of my family need to be careful when they have children, and how they look after themselves. That was the reason. 

The other reason for obviously taking part is because there is no test available. They need to do more research into it. There needs to be a lot of understanding of it, because unfortunately I don't know if - have you heard the saying about zebras?

No.

No. That doctors are - if you hear trotting, or a galloping noise, you presume it's a horse. And doctors are always trying to rule out what's obvious first. If a person comes in and their finger's bleeding, they've cut it. They don't go thinking oh, the skin's split open all on its own, or something like that. And that's where we're called like a bit of a medical zebra. Because every now and then, the galloping noise can be a zebra, and it can be an invisible condition. 

Lucy Y’s symptoms don’t fit easily with current diagnoses of Ehlers-Danlos Syndrome so she hopes that by taking part, her family may get some answers.

With my Ehlers-Danlos there is no test available. I find it very annoying. I can understand that they need to hold back on resources and money, but they can test for all the other types of Ehlers-Danlos. My diagnosis, I - when they diagnosed Ehlers-Danlos, they had major criteria and minor criteria. And if you have one or two major criteria you get a diagnosis. But if you have like five of the minor criteria, you can have a diagnosis. With myself with Ehlers-Danlos, I had quite a lot of minor criteria for the classical type, and criteria that matched the hypermobility type. So I was first diagnosed classical, then I saw a person who said my skin wasn't stretchy, so diagnosed hypermobile. I've since then been diagnosed hypermobile but I have quite a lot of crossover with the classical. Now to me, they could test me to rule out the other forms of Ehlers-Danlos. And then we would know that it was that type more. As a, to use the test to rule it out. But it's only allowed to be used to confirm the diagnosis. So for me, I therefore asked about is there any other way for me to have my gene, my genes tested, and have my DNA tested. And that's where the Hundred Thousand Genome Project stepped in.

My genetics consultant [laugh]. I was speaking to him. And he said, "[Name], you don't meet the criteria for the DNA testing because of the type of EDS that you've got. But we haven't got a DNA test for it. But because of your condition, and the symptoms that you're presenting with, it's highly likely that you've got Ehlers-Danlos." And because of these - I don't quite fit in any one box that easily. Which I believe is the case quite a lot, with a lot of people with EDS, they don't fit easily into these boxes. You get some families that have got their own form of EDS. But, he said to me it was an option for me. It would give me the answers I needed. I could have my parents tested, to see if it is in the family tree as well, which is what I wanted to do. And he, he explained to me that the research itself is going to enable you to be able to hold a bank that scientists and researchers, and pharmaceutical companies under certain conditions, can access that information. And how are you going to help with like the rare diseases unless you can access the information that's there? So at that point I was quite happy to go ahead.

Lucy Y, who has a rare genetic condition, was happy to consent to her samples being used for most aspects of the project but for a couple of the uses she asked to be contacted beforehand.

When you got that letter saying could they use your sample in the main project, did you have to sign something at that stage?

I had to sign huge amounts of documents at that point. And permissions for research. And also for the different uses of the DNA. I think there was only that I wasn't happy with, and I can't remember what it was for. As far as I was concerned, it wasn't one that I felt happy with. 

But there was just - there was one on there which I didn't. I, I think most of them I said "Yes. But can you contact me?" Was what I wanted them to do, basically. Or "Yes, I don't mind you using it, but I want to know. And I want my consent given on each occasion. And I want to know what it is, for each occasion."

That was - there was a box you could tick?

I think there was a box you could tick to it. It was either a yes/no, or I think it was - you know - that you'd consent, I think it was. And it was - some of them I, I hadn't got a problem with at all. But there was a couple of them that I wasn't a hundred percent happy with. Which I put down that I would only do if I consented separately to those. Yeah.

Lucy Y explains why she trusts that her sample will be protected and used only for medical benefit.

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 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. And I understand that they've spent a lot of money to protect it. 

Keeping the samples secure in the future so they aren’t used for the wrong reasons is important to Lucy Y. She believes a lot of money has been spent to securely store the samples for the Genomes project.

How do you think that your - you said that they've built a - they've spent millions on a building to store this.

Yeah. Yeah.

How do you think that your - where do you think your samples are at the moment?

I can - oh, this sounds weird. I can imagine them being in like a big fridge-freezer system, being held in little test-tube bottles, and I have a little row for my little row of test-tubes. And hopefully it's a high security complex. That's the only thing that does worry me, is… this whole what happens, future-future? Not necessarily now, because we haven't got the technology. In the future, what technology are we going to have, and what are we going to be able to do with the DNA? That's the only concerns for me, is in the future. Because it could be used for the wrong purposes. So that's why I hope it's held somewhere safely. Because, you know, a lot of the - unfortunately, things that they use in war, they release diseases and that kind of thing. You know? Nasty diseases. In an aggressive horrible manner. So therefore if you've got a collection of people with rare diseases and you've got all of their DNA stored somewhere, that's just something I'm concerned - which is why I did have a nosey, and it did say it had, had to spend an awful lot of money building somewhere to be able to store it all. 

Lucy Y is the only person in her family who has symptoms of EDS but she thinks the results could tell them if her family members or their children might be at risk.

I therefore asked about is there any other way for me to have my gene, my genes tested, and have my DNA tested. And that's where the 100,000 Genome Project stepped in.

That's interesting. 

And that's why I used the genome project. It was - I have other members of my family that have dislocated joints, and bendy joints, and want to go down the route of having children. And if I can find out - because I'm the only one in the family that's got this condition. I had a Granny that had a muscular disorder, but in those days they didn't have EDS, and they didn't know about it. So I'm the only person that's displayed any symptoms, so we're trying to find out if it's me that's started it, or if it is actually in the whole family. In which case the other members of my family need to be careful when they have children, and how they look after themselves. That was the reason.

Lucy Y got a letter saying she had been moved from the Rare Disease Genome study into the main study, but worries about why this was.

I probably - I have received correspondence from them since. I can't remember if that was separate, or - I received correspondence from them I think at one point, which was probably to say they'd received it at that point. And then most recently, which is - I think it's a little bit unfair. And I, I don't understand this side of things myself. But they've written to me and asked me - I took part in the Rare Disease Genome Project. They must have put me forward for the main genome project. I haven't had any information back on my genome and my DNA yet. So I'm wondering why they want it for the main project, and therefore they must have found something, but I don't know anything. So either it's the fact that they've looked at the medical notes and thought that lady would be interesting to put in the, in the main project, or have they actually done my DNA and I haven't received it back yet? Or was it just a mailshot that they sent out to everybody that was on the rare disease project, asking them if they'd join the main project? These are things that I don't know. And this is where I think the feedback would be quite important. They don't actually seem to understand - they understand it from the legal document side of things, they don't understand it from our side of things. You know, I suppose it must be a bit like someone doing a kidney transplant and that kind of thing, you know? So it's, I've allowed them to have a little bit of me. And I'd just like a little bit of feedback, really. But then there's an awful lot of people they need to contact to do that, isn't there, if it's a hundred thousand, so [laughing]. It's a lot of timescale, yeah.

Lucy Y got in touch with Genomes England to find out why some people had had results back and she hadn’t. She was satisfied with their response but thinks there should be more feedback.

But then I have since then been on the genome research site, and I have Googled genome research. And I've seen that you've had people that have come through the genome project and been diagnosed. I was quite - when I saw that on telly, and I've seen that this person's been found on the genome project and now being treated, I was quite upset at the time. Because I thought crikey, they haven't even bothered to contact me. But when I spoke to them and they said "No, these are people that have very short life expectancies, and - you know - that's why these people desperately need to have these, you know, be put further forward." I completely understood. But the feedback could be a bit better, to be honest. I feel a bit, you know, you've handed it over and that's it [laughing]. Yeah.

Lucy Y says its “heart-breaking” when doctors say there is nothing they can do. Participating in research might mean doctors can help in the future.

I think they should be honest. I think the more information that we have about this - how are you meant to learn about something? How, how's the doctor meant to learn about something? When I sit there and I, I go through five years waiting to get actually diagnosed with the condition, and for it to be taken actually seriously and understood, because they actually have a letter saying "Look, it causes this, it causes that. This is why she's having these problems." that people sit up and they actually listen. But you then have five years of having, then being diagnosed with everything that had been told "Oh, it's just this and it's just that." and they turn round to me and say "No, it's actually this, which is quite seriously going to affect you long-term, and cause your whole lifestyle to, to stop." But they then turn round and say there's nothing we can do. It's so upsetting and heart-breaking. 

And you get - some doctors will turn round and say that "Oh, you seem a bit anxious or stressed." Try popping a joint out of place and injuring yourself once a month, once a week. Put on top of that going down, you know, a hundred and fifty mile, two hundred mile journeys - hundred mile journeys - regular basis. Fourteen appointments in a month, I've done. You know? All with people just sitting there saying there's nothing we can do. So it's, it's - it's a hard route to go down. But for anybody that has a condition, it - it would enable these doctors to not be sat there and saying "Look, there's nothing we can do." They could turn round and they could say "Actually, you know, we are trying to do things about it." We could - we - you know - even if you had research projects that people could take place in. Rather than just having, going down all of that route. And it's not necessarily ploughing all your hopes into it, but you - because of all the testing and the way that you're spoken to, and they understand the diagnosis - you know, they understand when you walk through the door what your symptoms are. It's this [sigh of relief], you know? Finally, someone gets what I'm saying. 

But then you go through and have the tests. And then you have the door shut on you. "Bye-bye, can't do anything." Anybody out there that would consider doing it, that gives the doctors something in the future to be able to say, "Yes, there's this for you." But if nobody helps them, they're not going to be able to do that to help people.

Having originally been told that she would get her information back in three months, Lucy Y feels frustrated by the lack of feedback on her personal results.

The only thing I would say about the whole of this is that I was told originally I'd get back my information in three months. Which is what the normal DNA testing is. Because by giving my DNA, I was under the understanding that they'd look for those genes for me, you know, as - as well as the genome project, that those genes, they - they would have said "Look, can you just have a look at these genes first, because this is - you know - what we think is the area." I've been about a year and four months. I got told - I phoned up the genome project and was told they were sequencing in December. It's the waiting. And it, there's no feedback from anybody as to how long. Or the timescales of it. That's the only thing that I think is quite harsh. And also was the - I don't mind doing the research side of things, but there are personal reasons for me doing it as well. And at the moment those personal side of things aren't being met. 

But I wouldn't have minded doing the genome project anyway, if that makes sense? Because I think the research is good, and you need to be able to do it. But for me, I wanted something out of it as well. Which might sound selfish. But I just wanted to know what was going on with my DNA, so I knew whether or not we could have the rest of the family tested then, to see if they've got faulty DNA like me, and things like that. So that, that's. Yeah.