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Fragile X Carrier for DD

2 replies

MrsPurple · 16/11/2011 01:06

Has anyone got a daughter whose has been diagnosed as a Fragile X carrier. My DD had tests a few months back and we were told all was fine (as we have numerous concerns for quite a few years). We had routine appointment for bend toes and was informed her records show she is a carrier of fragile x. Googled it and its scary, will call doctors tomorrow to find out the way forward just wondered if anyone can shedd any light as to what we are dealing with as the symptoms do seem to finally explain alot of our concerns.

OP posts:
unpa1dcar3r · 16/11/2011 08:42

Hey Mrs Purple.
Welcome to my world for your DD. I too am a carrier of FXS. I have 2 gorgeous boys with full mutation which means they are LD, but I am fine (have a degree, am now doing teaching degree)
I also have 2 gorgeous daughters who are both clear and therefore will not have children with Full mutation.

Do you have a son? Why did your daughter get tested as there aren't really any obvious signs with carriers? Are there other family members (nephews etc) who have FXS?

Honestly it's not too bad, the real implications for some are that they have early menopause. Rarely before having children but it does happen for some.
I'm 47 and nowhere near mine yet- well at least if I am having it I haven't noticed!
The other implications of course are when she has her own children...however, without getting too technical (I assume she's young and therefore not a concern right now) there are tests that can be done at 13 weeks pregnant to see if the unborn child has it or not...I wouldn't think too deeply about that now if she's young.

She may be a bit slow at maths and may have a few watered down traits (we're all similar in our funny ways) but even saying that I managed to get A level maths equivalent many years ago (before i had the boys and before I know about FXS)- it was just harder for me is all.
We tend to learn kinaesthetically; by doing rather than by reading, listening. Hopeless at map reading but who isn't! And we have sat nav anyway haha.

One great thing about us carriers is that we have a great sense of humour apparently. BUT some can suffer very badly with clinical depression (I don't) about 30/40% I think. My mum does. She's a carrier too.

Please feel free to email me on here and I will do all i can to support you. There is also the fragile x society (fragile.org.uk) and you can google them. they're based in Chelmsford and are super people, really helpful.

There hasn't been much research into carrier girls but they are noticing that we all have similar traits and similar ways about us.Also that many of us get IBS type stomach problems (my mum has crohns) and also later bone pains, arthritis and so on...
But I bet she's very good at English!!!

Email me whenever honey, and please don't fret too much, it's really not that bad. I like being me! Wink

unpa1dcar3r · 16/11/2011 08:45

BTW I don't know if you've noticed it but there's a thread on here 'Can anyone talk to me about Fragile X syndrome'- a lady called Bizkit who is awaiting results for her son. Maybe you could read that and it'll give you more help as we've talked a lot about us carriers on there too. Smile

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