Leanne

Age at interview: 34

Brief Outline: Leanne’s daughter, Emily, has a genetic condition that doctors have not been able to identify. Leanne hopes that participating in the 100,000 Genomes Project may provide some answers to Emily’s condition.

Background: Leanne lives with her parents, son and daughter.

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Leanne’s daughter, Emily, has been suffering from severe constipation since she was 6-8 weeks old. Laxatives didn’t work so Leanne had to take Emily to the hospital for enemas six times a week. Emily’s bladder retention problems caused her great pain: she couldn’t walk, and she started losing weight. She had several biopsies that didn’t show anything, and many medical interventions, including the coeliac diet and a colostomy surgery, that failed to improve her condition. 

Leanne felt that the hospitals never considered her suggestion that Emily’s symptoms might be neurological. So, when an MRI scan confirmed Leanne’s suspicion and revealed that Emily had an enlarged spinal canal, a syrinx, Leanne felt upset. Emily was finally seen by a neurologist, but in Leanne’s view, the hospitals didn’t provide Emily’s full medical record, and Leanne felt the doctors didn’t acknowledge Emily’s symptoms.

When Emily was invited to participate in the pilot of the 100,000 Genomes Project in 2012 it felt to Leanne like she and her family “were being believed again”. Initially, Leanne was keen to take part because she felt that the blood sample that the project required was relatively non-invasive. However, her partner was more reluctant about participation and both she and her partner were apprehensive about whether genetic research would reveal that they had passed on a genetic condition to their daughter. She also had concerns about the impact of participation in research might have on Emily’s health insurance. But ultimately, Leanne felt Emily’s future health needed to take priority.

Leanne and Emily are still waiting for the results of the research. Since Emily’s blood samples were transferred from the pilot to the main 100,000 Genomes Project, Leanne thinks this will take some time. 

Leanne understands that there is an agreement about not disclosing information to insurance companies. But she worries that might change in the future.

Again, the things like insurance, do we have to declare it? And anything like that. Wasn't from me or dad, it was more for [Daughter] future, because we already can't get insurance for her. Sort of holiday insurance. So that did concern me a bit. But apparently there is an agreement at the moment that nothing would be declared. Whether that's just because it is a - like a study, like you say, rather than this is what we actually do in the NHS. That might change in the future. But for now, the need for an answer is greater than what that would actually imply later, especially for anything like that. 

Leanne, whose daughter has an unidentified genetic condition, travelled with her daughter and partner to a London hospital to sign consent forms and have blood taken.

So if we go back to - you've decided to do it, and you had to travel down to London. Can you describe what happened when you got to London?

There were several like families all already there. You were given, I think it was between like nine and eleven, eleven and one. To break the journey for [Daughter], we went down the night before. So we aimed for the nine to eleven. You basically went into the [research clinic], you were checked in. Signed a few forms. I will have the copies. And you literally sort of waited your turn to, to go in and have the blood taken. And then you, you saw [Doctor]. Yeah.

What happened in that appointment and after then?

Just discussed, you know, saying "Before we send the samples off, this is what we hope it'll be. What did you think?" You know, "What are you - basically, what are you expecting?" And the information that come through did say, you know, you will get something back. But like I say, of course we want that. We want the feedback. But we also knew that it's not been done before, so there were every chance that actually we might not get anything.

Because the information about the project said they would get “something back”, Leanne had hoped they might find out what is behind her daughter’s condition. She now has reservations.

Just discussed, you know, saying "Before we send the samples off, this is what we hope it'll be. What did you think?" You know, "What are you - basically, what are you expecting?" And the information that come through did say, you know, you will get something back. But like I say, of course we want that. We want the feedback. But we also knew that it's not been done before, so there were every chance that actually we might not get anything.

…do you have sort of like any anticipation that the genomes, the sort of sequencing of the genomes will help, particularly?

Do I have my hopes pinned on it? Is that what you mean, or? Do I think –

Do you hope at all?

I suppose as time's gone on - I did initially when we joined it think that they'll find something on the DNA, and they'll recognise it and they'll say "This is what it is, and this is what'll happen." But we're not hearing anything, and seeing things change for [daughter], I now do have a reservation that if they do find it and say "Well we don't actually know what this is, and we're just going to have to wait and see." I won't wish I didn't - I won't wish that I shouldn't have done it or anything. But I think I probably will think maybe not knowing was better.

In time Leanne thinks the project may lead to better understanding of treatments for rare conditions.

Just like I said in the email really, even if it doesn't change anything for us, what about later on? Like I say, to be honest, I don't - I have been on the net and had a look, and there are other families that have found themselves in a position and they've proven that there is something, and it has been rare. But nobody's listened. And they've gone through years and years. I just don't want that to continue. If this really is an answer, even if it takes ten years now because it's in the beginning, what if in fifteen years it doesn't, it takes a month? And you could potentially - you could potentially know a treatment, a successful treatment. Or one that'd at least keep it at bay. It'd identify what will and won't work. Not just the disease itself. Or so they believe that that'll be in part of it in the end, that they'll be able to tell what drugs will and won't work.