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"It's just daily life": Brianna's experiences of being a Fragile X premutation car

​This article summarises an interview with Brianna 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 46 years old, almost 47. I am from Bristol originally. I am married and I don’t have any children. I have got an older sister and she has four boys. Three older teenage sons, and one just four-year-old.

I work in a school I have been an English teacher for about 20 years, but now I work with students who don’t like school. I don’t know, in my free time, well, we work quite hard in the week, so weekends are really lazy. So we just read books and watch quite a lot of telly. You know how some people have hobbies? - I don’t really have them; I am not a hobby person.

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

Oh that feels like a long time ago! It was good I think, I got through school okay. I wasn’t bullied or anything, and sometimes I think I don’t know how I quite managed that. I feel I was just friends with the right people, but definitely a small group of friends, not, like, masses of people. I don’t like that concept of, you know, best friends forever where you are like “we’re best friends, we do everything together” – yeah, that does not work for me. The problem is – well that’s why I come to London by myself because I like to spend six hours looking at rocks in a museum, and if I were to come with a friend and they did not want to look at rocks for six hours in a museum, I would go and do what they want to do. So I think, I feel like I keep people out a little bit.

Can you tell me a bit about when you found out about the premutation?

So I was about 24, I had just been married. And my mum called and told me that one of my aunts, her son, in his early years had been diagnosed with fragile X. So my aunty had gotten information and said that we all needed to be tested.

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?

Not depression, in our family we wouldn’t call it depression. But there have been specific times I have gotten low. There was the time when I got my early menopause, I was low then. When I got my diagnosis, well not really then because I blocked that out, but a bit later when we went back to the hospital and got my CGG repeats.

I tend to overthink things. I always keep on thinking about people: why did so and so say that, was that because of me, stuff like that. Sometimes, it does gets me in a mess. Like, a couple of things happened at work and my uncle had died so I had taken time off and I got myself into thinking that I was terrible at my job and had a total breakdown.

But I just don’t see these as medical things. I mean my brain could probably be wired a bit differently because of the premutation, but I don’t see these moods and this overthinking and such to be connected to the premutation. Just daily life!

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

I don’t know, it’s just a part of me now! I think my life has been so very different, potentially more interesting in some ways than it would be if I had just had kids at the age of 29. I have definitely done stuff I would not have done if I hadn’t found out about the diagnosis.

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

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