Inherited motor neurone disease (MND)
Having the blood test and waiting for the results
Following the genetic counselling process, the people we spoke to were given the choice of finding out if they carried the genetic variant linked to inherited MND in their family. We spoke to nine people who had had the pre-symptomatic genetic test.
This section will cover experiences of:
- Having the blood test
- Waiting for the pre-symptomatic genetic test result
Having the blood test
The pre-symptomatic genetic test involves a simple, one-off blood test. Pre-symptomatic genetic testing identifies whether an individual carries the genetic variant linked to inherited MND identified in an affected relative before any symptoms appear. It is sometimes referred to as ‘predictive testing’.
Most people we spoke to had the blood test taken through the hospital or clinic where their genetic counselling had taken place, though Maggie had her bloods taken at her local GP surgery due to the Covid-19 pandemic. She wasn’t expecting to have a conversation with the nurse who took her blood sample but was asked about her decision and how she would feel if the results were not as she hoped. Although she felt sure of her decision, Maggie was told that she would be able to change her mind right up until she received her results. Other people we spoke to also described being determined and certain about pre-symptomatic genetic testing at the point of having the test.
It is generally recommended that people have at least two genetic counselling sessions before the genetic test, with a period of time in between so they can think through their decision and any issues involved. However, this was not the case for Harriet.
Harriet saw the consultant and had her bloods taken the same day for genetic testing. She felt a bit “blindsided” it was so quick, but relieved because she was sure of her decision.
Harriet saw the consultant and had her bloods taken the same day for genetic testing. She felt a bit “blindsided” it was so quick, but relieved because she was sure of her decision.
But yeah, so it was just a conversation with the consultant, and she just asked us why and seemed satisfied. I was told to go down the hall and took my bloods and we went home.
So how did you feel about that being the process?
I was a little blindsided. I wasn’t expecting bloods to be taken that day, I was expecting to have to come back again. I was a bit relieved, I was like, “Well, you know, it gets it done, we are sure about this”. I mean having the blood test I did kind of feel a bit, “Okay, right, that’s happening now”, like, you know, that we’re finding out.
The people we interviewed described the pre-symptomatic genetic test itself as “simple”, “straightforward”, and “not very scary”. For Lillian, it was “alarmingly simple”. Some people felt that it was a significant moment. Georgia Z recalled how she felt having the test, “It was so weird, honestly, I sat there and I was kind of wondering, ‘Does this lady know what she’s actually about to do?’, like she’s about to test me to see if I have this gene”. However, after having the test it “went over my head”, and she carried on with her day as usual.
Calum felt particularly “vulnerable” around his final genetic counselling appointment. The blood test itself was “fine”, and he felt confident that it was out of his hands.
Calum felt particularly “vulnerable” around his final genetic counselling appointment. The blood test itself was “fine”, and he felt confident that it was out of his hands.
So she decided that they would test me in November and I would get my results in roughly three to four weeks, which was quicker than I was expecting, I was expecting it to be six weeks or something like that. So I decided to go ahead there and then with the next appointment to be the testing appointment. So November, she’d asked my counsellor to come into the appointment with her, so there was the doctor, the counsellor and myself. I’d asked a friend to be with me actually for that appointment but they couldn’t make it, just because I think it would’ve been nice for me to have somebody to talk about because at that point it, it had weighed up massively, it was the final appointment before getting tested and I don’t know, I think I felt a lot more vulnerable in my circumstances, yeah.
So I… then I went through with it, I gave a blood sample, which was fine, they just take your bloods and things like that and there wasn’t really much they could talk about because we had covered it three or four sessions beforehand, I had asked all the questions that I needed to ask and wanted to ask and I had no new questions really, so it was a very quick sort of, “Are you sure you want to give the sample?” “Yes, take the sample”, and that yeah, it just went very, very quickly.
So following that I went away, alright confidence-wise that it was out of my hands now the you know, the decision was going to come back whether I had it or not and there was nothing I could do about it, and I was quite happy about that to be honest because I just didn’t want this ambiguity over my life. So yeah it, it was a long sort of three or four weeks waiting for it.
Lizbeth was relieved to have the genetic test after multiple appointments with different healthcare professionals. The team who took her blood sample had never tested anyone for the C9orf72 gene variant before, as she went through pre-symptomatic genetic testing soon after the test became available. She had to put them in touch with a researcher who she had been in contact with previously, who helped to organise the testing of the blood samples.
Waiting for the pre-symptomatic genetic test result
For the people we spoke to, the time it took to receive their results varied, from under 2 weeks (Georgia Z) to 3 months (Harriet). For Jade, it took longer because she was pregnant at the time and her genetic counsellors felt it would be better for her to have her baby before giving her the results. Some of the people we spoke to had genetic testing during the Covid-19 pandemic, which could have impacted the process.
People had different feelings over the waiting period. Lizbeth described it as “a tricky month for me”, but Anthony felt hopeful, “I’d say ‘excited’ is the wrong word, but… you’ve sort of got hope that you’re going to be the 50% that’s fine”.
Whilst having a timeframe for receiving their genetic test results helped some people to manage their thoughts and expectations, others found having a date made it more prominent. Several people talked about trying to put it to the back of their mind until they got closer to the time they were expecting to hear, like Georgia Z.
Georgia Z managed to put her pre-symptomatic genetic test results out of her mind, but once she was given a date she felt “nervous”.
Georgia Z managed to put her pre-symptomatic genetic test results out of her mind, but once she was given a date she felt “nervous”.
So the consultant said to me, “Because of COVID you’ll be waiting” like you know, it was like three to four weeks, maybe even longer, maybe even six weeks. And I was like, “You know what, that’s fine, there’s no date, you know, no problem”. Then he called me randomly and said, “Oh hi Georgia, we’re going to get the results on this day”, and I was like, “Oh, I kind of wish you didn’t tell me”, because I’d managed to put it to the back of my head. Then when I had the date, I was yeah, I was nervous because then you’re kind of waiting and I was kind of waiting for the call.
Knowing when she would receive her pre-symptomatic genetic test results meant Maggie wasn’t on edge every time the phone rang. However, it was something she thought about often.
Knowing when she would receive her pre-symptomatic genetic test results meant Maggie wasn’t on edge every time the phone rang. However, it was something she thought about often.
So then I had a phone call back from the counsellor again, who said that it would be, she confirmed that the test, the sample was in the lab and that it would take about 45 days for the result to come through, which meant I could sit back then and know that I wasn’t going to get a phone call for at least 45 days, which was nice to know because otherwise every time the phone rings you’re thinking, “Oh, is that it, is that it, is that it?” and I could then put it out of my mind.
Again, having taken that step and the whole thing was in process, I was able to put quite a lot of it behind. It didn’t take up all of my time, but I don’t suppose really looking back that there was more than half an hour at any time that it wasn’t somewhere worming around in my head. In fact, really for the last two years it’s been worming around in my head, and really the biggest thing was how to tell my daughters and the horrible thought that I could’ve passed this beastly thing on to them was the overwhelming thing.
Harriet’s genetic test results were delayed, which was particularly frustrating and difficult to deal with. Looking back, she highlights the difference between her experience (she tested positive) and her cousin Georgia’s experience (who tested negative). Whilst she waited for 3 months and was asked to come for an in-person appointment, Georgia Z received the results very quickly and over the phone. Harriet feels that the process should be the same for everyone in spite of the result. Perceiving a pattern between the testing process and the result could cause anxiety for family members who have yet to go through genetic testing.
After being told her pre-symptomatic genetic test results would take 6 weeks, Harriet put it out of her mind. She was frustrated by further delays and felt nervous and on edge.
After being told her pre-symptomatic genetic test results would take 6 weeks, Harriet put it out of her mind. She was frustrated by further delays and felt nervous and on edge.
When I thought about it… I remember feeling more frustrated because I was like “She told me six weeks”. And then when you’re told that, that’s what you fixate on. So I forgot about it until that six weeks, I was like, “There’s no point thinking about it”.
Then the six weeks came, and then you’re on edge and you’re nervous because you want to know because it has such a huge impact on your, on your ongoing life and you’re so hopeful that you’re going to be, it’s, you’re hopeful it’ll be negative and that you can move on and put it behind you. Remember through all of this time, this was the July of ’19, mum was just getting worse and mum died and then I’m grieving and then yeah…
So yeah, I think the time, that three months was, there was frustration when, and then I couldn’t get hold of anyone because getting hold of anyone in the NHS is really difficult. And you know, you’d hear back a few days later after you’d tried to find out and that’s, you know, “Oh, no, they’re still in the lab, they’re still testing”, and you’re like, [sighs] “Okay”.
So it was - I’m probably dulling it down because, you know, your mind does a wonderful thing of softening things but I, there was nerves and anticipation and apprehension at the inevitability. You know, we’d started something and we had to find out the answer, and although I wanted the answer because I wanted to know, I almost didn’t want the answer because you don’t, you know; ignorance is bliss, right [laughs]?
Kelly and Harriet both became more focused on the possible implications of inherited MND during the testing process, and what it could mean for their own health and plans for the future. Up until that point, Harriet had been focused on the goal of having the test in order to move forwards with her plans of expanding her family. For Kelly, waiting for her results was an emotional time.
Where people have children, genetic testing has implications for the children too. If a parent tests positive, then there is a 50% chance that each of their biological children will carry the same gene variant (though being a carrier does not always lead to the condition in a person’s lifetime). Yet if a parent tests negative, their biological children cannot have inherited this particular genetic variant from them. Waiting for a parent’s results could also be a significant time.
For Kirsty, MND seemed to have a bigger presence whilst she was waiting for her mum’s pre-symptomatic genetic testing results. It was “more threatening somehow”.
For Kirsty, MND seemed to have a bigger presence whilst she was waiting for her mum’s pre-symptomatic genetic testing results. It was “more threatening somehow”.
So, she then started undergoing the process of testing. And that was, it seemed to take a really long time, sort of from the decision to do it to having those initial - what do they call them? Like genetic counselling sessions. And then actually having the test and sending the results off.
You know, it actually wasn’t really that long but it sort of, it felt like a really long time, and it was sort of… And I think from, like even though up until that point we all knew that there was a risk or the potential that she had it, as soon as she had the test somehow that just made it even more, I don’t know, more threatening somehow. Like it was just, it was a much sort of bigger presence I suppose in our lives while we were waiting for the news.
Some of the people we spoke to had planned with their genetic counsellor how they wanted to receive their results, and who would be present. The option of receiving the results over the phone was offered to some of the individuals we interviewed who had genetic testing over the Covid-19 pandemic. This will be covered in receiving a negative pre-symptomatic genetic testing result and receiving a positive symptomatic genetic testing result.
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