Recently, Dr Felicity Boardman and colleagues from Warwick Medical School conducted a study to investigate the implications of genetic screening programs. Very little was known about what families living with Fragile X Syndrome (FXS) and other genetic conditions think about screening, particularly carrier screening which is carried out before a pregnancy is established (pre-conception genetic screening), during pregnancy (pre-natal screening) and after birth (post-natal screening).
Thank you to all those who took part in this research. The initial summary results are presented below. We will keep you informed about progress following on from this study, as well as any more in-depth findings which become available.
This data will be used to create academic publications, and as evidence to submit to the next UK National Screening Committee review of Fragile X screening policy. We will keep members updated as academic papers and reports become available.
Content warning: this article discusses some challenging themes including pregnancy termination and discusses aspects of Fragile X using medicalised language.
Note: Quotes used throughout the article have had minor details amended in order to protect the participants’ anonymity.
Who took part in the research?
We received an overwhelmingly positive response from members of the Fragile X Society, both to the survey, and the one-to-one interviews. In total, we received back 323 surveys and we undertook 17 in-depth interviews with 19 people living with different Fragile X associated experiences, which we used both to help us design, but also interpret the survey findings.
This report will give you a brief overview of the data.
We had a range of people respond to the Fragile X Screening Survey (UK).
Table 1 shows that the majority of responders were female (82%), aged 46 or over (73%), with a bit of a split between whether participants were religious (53%) or not (43%). The most common religious affiliation was Christianity.
In terms of relationship to Fragile X:
20 (6%) participants reported having full mutation FXS
30 (9%) reported being diagnosed with Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) or Fragile X Associated Premature Ovarian Insufficiency (FXPOI)
273 (85%) took part either because they were a pre-mutation carrier and/or they had affected family members.
The vast majority of these responders were parents of a person affected by FXS (75%), with the largest group of these parents (86%) having (at least) one male child affected by FXS.
The 19 in-depth interview participants were also majority female (15 participants, 79%). Ages ranged from 17-75, but the average age of participants was 48, reflecting a similar demographic to survey participants. The split between those diagnosed with a Fragile X related condition was also very similar to survey participants:
· 3 (16%) participants having a diagnosis themselves: two were diagnosed with FXS (1 male, 1 female) and one was diagnosed with FXTAS (female).
· The other 16 participants (84%) were relatives/pre-mutation carriers. Of these relatives/carriers,
11 were parents of a child with FXS (69%), with 4 of these parents having more than one child with FXS (36% of total parents).
A further 4 avoided having another child with FXS through using pre-implantation genetic diagnosis (1), prenatal diagnosis (2) and the use of a donor egg (1).
The final 3 parents with one affected child chose not to have further children, or had already completed their family by the time their child was diagnosed with FXS.
The remainder of the relatives included in the study were the grandparents (2), cousins (2) and spouse (1) of people diagnosed with a Fragile X-associated condition.
Results of the Research
Living with Fragile X
Participants in both the survey and interviews were asked about their views on what the experience of living with Fragile X was like, including how they viewed quality of life and support from wider society. Overall, 77% of survey respondents thought that people with FXS can have a happy and fulfilling life (35% of whom strongly agreed), but nevertheless 56% thought that FXS causes people to suffer. The interview data illustrates how these views could sit together in the way that the condition was experienced:
“I mean I think my son [with Fragile X syndrome] enjoys life. He's a very happy child, but obviously at time he's very upset when he doesn't understanding something, or he's doing like aggressive behaviour or naughty behaviour and of course you have to tell him off. And he gets very upset by that, he takes it very, very personally. He has a lot of confusion and frustration which must be very hard for him. but I think he has… as a child I think he has a very good quality of life but when he becomes an adult I’m not sure how that will be”
(mother of male child with Fragile X syndrome)
Key theme: Lack of support and recognition
One of the key points that came out strongly in both the interview and surveys was the lack of support from wider society for families and individuals living with Fragile X associated conditions. Only 26% of the 323 survey participants thought that families were well supported by society and 73% thought that most difficulties associated with Fragile X related conditions could be overcome, or at least minimised, with better social care and resource provision (31% strongly agreed).
“you have to fight for everything”
(mother of two children with Fragile X syndrome)
Some of the interview participants also mentioned that the relative invisibility of Fragile X syndrome and related conditions could create barriers to support and understanding,
“I think the moment you see someone with a wheelchair or some sort of physical disability you're instantly more generous with your time, with your thought process, etc, but you just see an ordinary looking person on the street, for example, but they are like looking around, looking a bit dazed and confused, people wouldn't think to help or offer… you know, or worry about them. Do you know what I mean? it's that kind of thing. It's the physical versus the mental I guess and people respond to what they can see in front of them. If they can’t immediately see it, they question if it’s even there at all”
(mother of an adult male with Fragile X syndrome)
“This Fragile X thing, I don’t know how much that makes them stand out. I know he comes home from school [son with pre-mutation] and he says some of the kids at school think I’m weird, which makes me think, well maybe it’s more obvious than we think it is. But I don’t know if you were to look at him that you’d say that he’s got something ….So people know what someone with Downs looks like, but we don’t see anyone with Fragile X in the media. No one speaks about it that I’m aware of, so as far as… we’re in this little world there’s only us that have it and can you explain to you what it’s like. So the result of that is that he doesn’t get supported with it because no one can see it, and even if it’s pointed out they don’t know what it means”
(mother of teenage son with pre-mutation)
“What upsets me is people just put it down to naughty behaviour, bad children, you know if he’s having a meltdown in the supermarket and he’s lashing out, being aggressive and people stare. I’ve stopped talking about Fragile X now, I just say it’s autism as I think we’ve come some way with the understanding about autism. But with most people I won’t even get that far, they’ll just tut or stare and assume I am the worst parent in the world with the most awful child in the world, and quite frankly it has stopped me going out sometimes.”
(mother of young male child with Fragile X syndrome)
“…..it's society that perhaps may need to change a little bit more, not our children. You know, if society does change sometimes a little bit differently our children wouldn't have quite so much problems, you know, we wouldn't as a family have had quite so much problems, but that's probably actually asking for too much really isn't it?”
(mother of two daughters with Fragile X syndrome)