Options for having children in families affected by inherited MND: Genetic testing and pregnancy

This section covers people talking about different options for having children in families affected by inherited MND. There are many routes people take, including having children the usual way, but this section focuses on experiences of using genetic testing during or before pregnancy in order to prevent passing on a gene variant linked to MND. This section includes:

  • What reproductive options are available
  • Knowledge and views on pre-implantation genetic testing and pre-natal testing during pregnancy
  • Experiences of using pre-implantation genetic testing

Hear people reflect on their experiences of deciding whether to have children, and talk about their future plans to start a family (including the options described below).

What reproductive options are available

Many people with MND running in the family choose not to let that affect their family planning choices. If they do have children the usual way, without any additional testing, there is the possibility that their children will not be affected anyway. It is important to remember that symptoms usually start in mid or later life, and that there is ongoing research looking at finding treatments. However, there are also options available for people who want to have a child without passing on a gene variant linked to inherited MND.

Where a genetic variant linked to inherited MND has been identified in the family, people may be able to have genetic testing. This can be done in two ways, either testing an embryo before pregnancy (pre-implantation genetic testing (PGT)) or pre-natal testing of an established pregnancy (explained below).

PGT uses the fertility treatment IVF (in vitro fertilisation) with the added step of genetic testing, and is available to some people who are at risk of passing on an inherited condition to their children. Embryos are produced through IVF and tested for the gene variant at a very early stage. Only embryos which do not carry the genetic variant would be transferred to the womb. This is sometimes also called PGD, preimplantation genetic diagnosis.

Pre-natal testing for inherited MND involves testing an established pregnancy for the genetic variant (pre-natal means ‘before birth’). This type of testing is sometimes called PND or pre-natal diagnosis. Pre-natal testing can be carried out as early as 11+ weeks of pregnancy using Chorionic Villus Sampling (CVS) to collect a sample of DNA from the pregnancy. Having a prenatal test is associated with an increased risk of miscarriage, and people wouldn’t be advised to choose this option if they would not consider terminating the pregnancy if the fetus was found to carry the genetic variant. Testing a pregnancy but not having a termination after a positive test result would take away the child’s right to choose whether to have the genetic test later in life.

Harriet explains the reproductive options available where a gene associated with inherited MND has been identified in the family, and why she has chosen to try pre-implantation genetic testing.

So, as we know it there are three options to us: we can just go naturally and just forget about all of this and the child can get tested when they’re 18 and you know, fingers crossed; we can go naturally and at 12 to 13 weeks have an amnio-whatever test and they’ll test the fetus at that point. My understanding is that you are pretty much committing to an abortion if the test is positive; and then the third option is to go through IVF and PGT.

Having had our son, having the test at 12/13 weeks pregnant and then having to terminate is not something either of us feel we can do. I’ve having carried a child I, and the connection I felt to him by that point, I don’t think I could – particularly because you go back to their future, is just going – I know it will be so different to my mum’s experience. So, it’s just not, it’s not black and white and it’s – and it’s so much harder because it’s not – to make the decision.

I know that there’s parts of my family that think we’re nuts doing what we’re doing, and we should just have a baby and get on with it and not worry about it and what will be will be a bit. But everyone is being supportive vocally and, and this felt like the only option for us; we had to try, we both felt we just had to try and do the right thing.

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In some cases, it may be possible for people to have PGT or pre-natal testing for inherited MND without needing to find out if they have inherited the genetic variant of inherited MND themselves (non-disclosure or exclusion testing). For PGT this would mean potentially undergoing IVF unnecessarily if they are not actually a gene carrier. It would however protect them from any potential distress of knowing their own result if positive, while still being certain their baby is unaffected.

Lizbeth has shared information on reproductive options with her children. Her daughter was interested to learn about the possibility of having pre-implantation genetic testing without finding out her genetic status.

The last meeting we went to in [city], the first one actually it was all about the impact of, the impact of knowledge on younger people, and something I brought back from that meeting – we’d talk about, well I would go, come back and we’d talk about it – and I remember saying to her, “Did you know”, I said, “That you can, you can have babies carefully without knowing your status?” and that interests her. She has no, she has no desire to know, but she has every desire to have a healthy child.

So I brought that information back with me then, “Something I’ve just discovered, I’ve discovered that, that there’s a possibility that you could have…”, and I, I honestly don’t know the way, the way to describe it, it’s genetic selection I suppose, but you’ve got to be careful how you say that because it’s not [sound cuts out]. “You can, you can have that but you don’t have to go through the process of finding out your status first”. So, we’d have that kind of conversation and that, that makes her think “Okay then, that suits me”, you know. So yeah, we do have, I think we have informative types of conversations with them about it.

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Other possibilities that may be available are choosing to foster or adopt, and couples might also want to consider sperm or egg donation. These options are available even where people don’t know the gene linked to inherited MND in their family and haven’t had genetic testing themselves.

There are many factors which can influence which options are available and right for different people. More information about these and other options is available on the MND Association website. People may benefit from talking to a genetic counsellor or other healthcare professionals.

Knowledge and views on pre-implantation genetic testing and pre-natal testing during pregnancy

Some people we spoke to were aware of reproductive options to prevent passing on a genetic variant of inherited MND to future generations. Genetic counsellors could be helpful in explaining options like PGT, and others had been told by different healthcare professionals (such as neurologists) or by family members. Not everyone had been told about these options or looked into them further, especially where it was not relevant to their situation.

People had different opinions on using genetic testing before or during pregnancy to prevent passing on a gene variant to the next generation. Some people didn’t have strong feelings or hadn’t really thought about it before. Other people felt that there was nothing wrong with using options like pre-natal testing or PGT.

Lizbeth sees using genetic testing before or during pregnancy as “valid” and “useful”. She points out that testing during pregnancy has been carried out for a long time.

These, these things have been happening for a long time anyway where you get, if you’re an older mum they test you if you’re carrying a Down’s syndrome child so that you can make a decision whether you want to bring that child to full term. So there’s been this sort of thing going on for a, a long time, but with this, with more modern technology, I think if there’s a – and I suppose this is easy for me to say because it benefits my family – but if there’s a valid reason to do it, that’s not to pass on a wicked awful gene to your family, then it’s, it’s useful, but not just to pick and choose what kind of kid you have.

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Like Lizbeth, Maggie drew a comparison between using medical technologies to prevent illness and for other uses. She said, “We have used medical knowledge and science and things to our advantage, it would be foolish to suddenly turn around and say, ‘No that’s wrong’. I think some things probably are wrong, designer babies and all that sort of stuff, but if you can get rid of a rogue gene…then why wouldn’t you?”

Some people’s views were informed by previous experiences, including of seeing relatives affected by MND. A few individuals had faced decisions over testing in pregnancy for other conditions. Paul emphasised respecting “the variety of life”, but Niki said, “I personally believe very strongly in the quality of life, and have no qualms about any kind of selective action, but that wouldn’t be everybody’s way”. Richard felt that some people might see using genetic testing before pregnancy as interfering with “mother nature”, but for him, “my view is that anything that stops people having to see what I saw with my mum trumps that”.

Some people had concerns about using pre-natal testing for inherited MND, particularly around terminating a pregnancy, which they felt was a difficult decision or hard to justify given the uncertainty of whether a baby would actually develop MND. Sheenagh said, “if you have that gene, it doesn’t mean you’re going to have the disease. And if you don’t have that gene, it doesn’t mean you’re not going to have the disease… there’s nothing conclusive about it”.

People also had particular views on PGT. JW said, “I thought it was some clever thing you could do… But actually it’s just yes, no, no, yes… it sounds brutal but I’m all in favour of it. I wouldn’t have any moral objections to it because being conceived is a fairly random act anyway”. A few people pointed out the physical and emotional, financial and practical costs of IVF, as well as the limited success rate. From her experience as a children’s intensive care nurse, Sarah said, “you can test to your heart’s content for various things… but you can still have other problems that arise within your life”. Another view was that using PGT was like “playing God”.

Helen would support her children considering options like Pre-implantation Genetic Testing. However, she points out that people’s beliefs can complicate such decisions.

It wouldn’t bother me at all, in any way, for them to consider pre-implantation genetic testing. But it’s not an easy decision for everyone, depending on how they’ve been brought up or what they believe in. Our family has a Catholic background and the Catholic Church has lots of ideas on this sort of thing, which might give a few added complications to them depending on what they believe when they’re older.

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Helen would want her children to have information on reproductive options when they come to make decisions on starting a family. Other people also felt it was important to share information about inherited MND in the wider family so everyone has a chance to make informed choices. Some people hoped their children would use options like PGT to prevent the disease in the next generation. Whilst a few said they would encourage this, others emphasised that it was their child’s choice.

Some people confused PGT with gene editing or removing a gene, but it is important to make clear that PGT does not involve gene editing, but rather the genetic testing and selection of embryos.

Experiences of using pre-implantation genetic testing

One person we spoke to had used PGT to try and prevent a future child from inheriting the genetic variant linked to MND that she carried. Harriet’s mum was diagnosed with MND when she was pregnant with her first child, and this was identified as an inherited form after his birth. For Harriet, having pre-symptomatic genetic testing to find out if she had inherited the C9orf72 gene variant was a “no-brainer”; she and her husband wanted another child but felt a “moral duty” to find out her result before going ahead.

Having a second child is something that Harriet and her husband feel strongly about. Knowing that she carries the C9orf72 genetic variant, they want their son to have the support of a sibling.

We’re not done with our family, we’re not. It’s something I feel incredibly passionate about; I don’t want my son to grow up as an only child, particularly knowing what we know about me, right? Like I don’t want him to be on his own going through something like that if that is to be my fate and I want him to have the support that I’ve had of my sisters, which oh, is just like nothing else really.

So I feel very strongly I want to have a second child. We, [husband] and I, [husband’s], my husband’s eldest of four and I’m youngest of three; it’s a, we always thought we’d have a big family. We kind of both had three in our heads and this has completely changed our, you know, we’d just be really, really grateful for another one. I know it seems selfish maybe to some that, you know, we’ve already got one and maybe be happy but I don’t know, growing up with siblings, like those, those relationships are, are just special. They’re important in so many ways in you know, from the fights you have to the beautiful moments you have, I think all of it is shaping you as an individual and I want that for my son.

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Harriet received a positive pre-symptomatic genetic test result, and she and her husband decided to go ahead with PGT to try for their second child; they didn’t feel that other options, like pre-natal testing for inherited MND, were right for them. Harriet believes in other people’s right to choose to end a pregnancy, but she personally would find it difficult to have a termination on the basis of something that might or might not happen, especially given research progress.

Unlike most people we spoke to, Harriet hadn’t seen a genetic counsellor before having the pre-symptomatic genetic test, as she had spoken to a neurologist instead. Because of this, Harriet and her husband were required to have a genetic counselling session before starting the PGT process.

Harriet describes the physical, emotional and financial strain of going through Pre-Implantation Genetic Testing with IVF. After the first attempt failed, she wasn’t sure she could do it again, but decided to try one more round.

We’ve gone through one round of IVF and it didn’t work. We didn’t even get to getting it to the lab to be tested for the genetics; everything kind of fell apart on day three of the IVF process, so. That was a pretty devastating blow because we went into it naively thinking we’re two fertile people, I got pregnant with our son within three months of trying, no issues, and we sort of thought we’re ticking boxes here, we’re just making sure that we rule out that gene. I really, really thought it was going to work. I didn’t think we – I thought we’d breeze through it and really, really naively. And we’re about to go through our second round, I’m just waiting, crudely, for my period – not crudely – but basically we’ll be starting in the next week. And I have a healthy dose of realism attached to our next go at it. What is also very difficult, and I understand they are trying to change it, but this is costing us about £12,000 each time we do it because we have our son and we are not eligible for NHS funding.
 
We don’t know whether our son has the mutated gene or not, because it’s not ethical to test him. But that we thought was in our favour for still getting funding because we don’t know, we can’t rule it out, we can’t say that he doesn’t. It is something I understand they are trying to change because they see the unique circumstances that people are in, but it wasn’t something we were going to wait for. I was even told that there’s a bill waiting to be heard but we were like, you know… I’ll be 36 later this year, my husband’s a little bit younger than me, he’s 32, and I just feel I don’t want to wait much longer for our second child.
 
So we have been fortunate enough to financially be able to do it. We have family that very much want to help us, which is great. But it’s an added sting I suppose in all of this, but yeah, and particularly if it comes out with nothing. We’ll see, we’ll see, I’m trying to go into this with some positivity. I’m normally a very positive person but I was fairly determined after the last round that I would never go through that again. It was, the emotional toil was like nothing else, it was awful. It’s quite barbaric really [laughs]. But here we are, we are going to go through it again.
 
I don’t think we would do a third round. Our eyes have been really opened to just the complete randomness of IVF and two people that all their fertility figures are tip top and fine to go, to have the outcome we had on the last round… I mean all the doctors were really like… no-one saw that coming. And the amount of eggs that they got from the egg collection and the amount that fertilised, all of it was really positive and everything stopped on day three and it was just… what we were told was just really bad luck. And the majority, I think they said like 80% of people that had the picture that we had on day three go on to have at least two embryos at the end to then go to the lab to get tested.
 
So that was, yeah… time’s a great healer. As I say, when we found out there was nothing, I was fairly broken and didn’t think I could emotionally go through that again, not to mention the discomfort and the pain of stabbing yourself every day for ten days and then the discomfort of the egg collection… I’ve counted the hurdles between like now and getting to potentially a baby, or a transfer back and there’s like 11 solid crappy hurdles to get over [laughs]. And it’s just all so random and pot luck and it just – which is galling and it makes you angry. But trying to be positive because mental attitude is really important [laughs]. But IVF right now is our chosen way forward. There will be conversations if this doesn’t work.

 

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After the PGT failed, what was a “black and white” decision became “fuzzy and grey” as Harriet and her husband considered their options going forwards.

Making decisions over expanding their family has been difficult for Harriet and her husband, given the uncertainty of whether a future child would develop MND and the possibility of research progress.

I don’t know what we’ll do if it doesn’t work. It’s tricky, it’s tricky. The reason I think it’s tricky is because it is a, something that 50/50 may or may not happen, may or may not pass on rather, and beyond that it’s, you know, it’s – okay, I’ve been told it’s likely to express itself, but there’s that small bit that’s not, it’s a possibility, and we’re talking about something that doesn’t affect an individual until they are in their 60s or beyond. So – and on top of all of that, there are targeted therapies that are happening right now in trials on my specific mutation, which is amazing. So I’m not hugely worried for my future because of, because of that, and what they are doing and what could still happen in the next 20 years. And I don’t, in that respect if my son does carry the gene, I don’t, I’m really not worried for his future.

I think a big part of us wanting to stop it and by going through the IVF for PGT is so they don’t, they don’t have to go through what we’re having to go through. Because what you don’t want is you don’t want this to just be passed down and down, where we can stop it.  But for the sake of not having another child because of it, I don’t know, I don’t know. So I don’t know what will happen if this doesn’t work, but it’s conversation for us to have and get our heads round.

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After a second round of PGT failed, Harriet and her husband decided they would try for a second baby on their own; after looking into current research on genetic therapies, they feel confident that there will be a treatment available in the near future.

Although other people we spoke to had not used PGT themselves, one person, who asked not to be identified, described how a relative had her first child through PGT, conceived after the third round of IVF. Like Harriet, one reason she wanted a second child was so her existing child had the support of a sibling, particularly if she became ill. Although the first three rounds of IVF were funded by the NHS, any further treatment had to be paid for privately. After two further rounds of IVF were unsuccessful, she and her partner decided to try for a second baby on their own. As well as the financial cost, the physical strain of IVF was a factor in this decision, “It’s a big decision though, but they couldn’t afford IVF and anyway, the IVF treatment is…not a nice thing to go through. It sounds like you have a quick pill and you’re fine, but it’s amazing the amount of rubbish you go through. She just couldn’t face doing it again”.

This person acknowledged that having one child who does not carry the C9orf72 gene variant, and one who has a 50% chance of having inherited it could cause some difficult conversations in the future. However, this person supports the decision to have another baby anyway. “The advantages have already begun; the disadvantages won’t emerge for several decades, so what the hell”.