"Knowledge is Power": Grace's experiences of being a Fragile X premutation carrier

​This article summarises an interview with 'Grace' (age 45) about her experiences of living with the Fragile X premutation, which was conducted as part of a recent study.

Can you tell me a bit about yourself and your family?

I am a premutation carrier who has two grown up children who are also carriers, and one who isn’t. My dad is a carrier and my sisters are both carriers. They have children some of whom are carriers and some aren’t, and one who’s a carrier with autism as well.

What about hobbies, career?

I don’t socialise very well so I tend to gravitate towards things like going to the cinema, the theatre. Things that don’t sort of require me to interact with people, so I can sit and relax and enjoy what’s going but without having the pressure of having a whole conversation and things.

I am a social worker working with people with learning disabilities. I’ve worked most of my adult life, apart from when I was bringing up my children.

Can you tell me a bit about your childhood; what was your social environment like?

I was very shy as a child, I was anxious about any kind of situation where there was group involved. I did have, maybe two, close friends when I was young and I felt like that was enough. I didn’t feel like I needed any more friends than that.

I tended to enjoy spending time on my own at home. I would be quite happy to sit with my mother’s friends, because there was no pressure on me to interact with them and I could just sit and observe and enjoy their interaction without me having to be really very involved.

Has this shyness, this interaction style carried over from your childhood to your adulthood?

Absolutely, but what I have done is I have learnt some skills to try and mask it a little bit, I use humour quite a lot. So if I am in a situation where I feel quite shy, I might crack some jokes. So socially I can manage, but inside I feel that pressure. You’d never know that, I am quite well practiced.

I get a bit nervous in big public crowds. I work in a big office with a lot of people, I don’t mind that because it feels like I can disappear in the crowd. I don’t mind that; I just don’t like an attention being on me.

As far as friendships go, it is still pretty much the same. I have quite a lot of acquaintances, people I know from work, but I find it hard to maintain friendships. I have a couple of close friends at work, and sometimes I will see them outside of work, but quite often they’ll arrange things and ‘ll cancel because I get just too anxious.

Can you tell me a bit about when you found out about the premutation? How did finding out about it affect you?

My sister’s son was showing some autistic behaviours and ended up going for genetic testing. So when he was found to have the premutation, my sister got tested, and other family member were suggested to get tested.

At that point I had remarried and we were hoping to have a child, and so we found out about the premutation and we had problems getting pregnant, and I had further tests done and found out that I had premature ovarian failure, so the chances of getting pregnant were very low. So that had a massive emotional impact on me. During that time, I got quite depressed, for a couple of years. I found it hard it hard to accept, I felt it was unfair, I felt that there were things going on in my body that I hadn’t been warned will happen. Maybe if I had known when I was younger I would have prepared myself differently. I was grateful that I hadn’t waited to have children, otherwise I would have been able to have any.

If you look back and see, would you say the premutation has affected your life, even before you found out?

Looking back now, I just thought it was me you know. I knew I did things a certain way but I never questioned why. It’s only since I’ve found out that I have read about it, and looking back it’s like crumbs, like a jigsaw puzzle was missing about my own understanding of why I was the way I was. in the things that I have struggled with, and obviously I can’t say it’s a hundred percent, but I would say it’s likely (that it’s the premutation). There is this inability to spend a lot of time with people with some kind of down time alone, like retreating to my bedroom after work, there is almost like this exhaustion – not physically so much, but mentally – almost like you have ben in a performance, and you need to retreat and recharge. Even with my family, after a conversation with my husband, I need to be just sit and be quiet.

Somethings I thought were just how everyone behaved, and my husband pointed but that I was unusual. For example, sometimes, if I find something I am interested in, I get obsessed with it. It could be reading a book, or a song, or a TV show. I would watch it over and over and over again. It feels like a coping mechanism. I struggle with change a lot, I mean everyone does, but it just feels like it takes me longer and I have to put in effort which other people don’t have to. The feeling of being lost causes stress and anxiety.

We have found from research, that some women face mental health issues due to the premutation. Is that something you identify with? Do you think these difficulties are linked to the premutation?

I would say I was anxious from being a little child, having a routine of counting before I went into a room with my parents to talk to them about something difficult, or rather preferring to leave notes for my mum instead of speaking with her. Looking back, I definitely think that was anxiety. I have had panic attacks since the birth of my second son, although probably had panic attacks before then, but never really recognized them as such.

Talking about depression, I think I had my first bout of depression at 17, and I was put on antidepressants then. And I can say that even between major bouts of depression I have had lower levels of depression, looking back now. I had post-natal depression at 19, and was put on medication, and then another major bout again eleven years ago.

Looking back, I have always had problems with anxiety and depression. I would say it has a major impact on my life. It is really difficult to answer if or not it is because of the premutation since I know people suffer with anxiety and depression any way, but I see too much of a pattern, my son and daughter who are both carriers struggle with anxiety and depression quite a bit. My sister, who is a carrier does, my nieces do. The only way to know is to have wider studies with carriers and see what the rate is.

What are some of the positive impacts of finding out about the premutation?

It has actually, because, my daughter got the opportunity to find out and she made the big decision to have children younger than she may would have. So now she had her children early, and I think that is definitely a positive, because if we hadn’t found out and had she waited, she never would have had the opportunity to have children and she has given me some beautiful grandchildren. So I think knowledge is power, just knowing enabled her to take informed decisions, and I am grateful that the information was out there.

To read more about the findings of the research study, for which this interview was conducted, click here.

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