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Fragile X carrier testing - any experiences?

(2 Posts)
Woodchiponthewall Sat 03-Jan-15 16:05:49

I am 24 weeks pregnant with my first baby, a boy, and am obviously delighted!

Over the past few days I have become aware of fragile x syndrome and read about the condition extensively, which has given me some anxiety and I would appreciate hearing any insights and experiences from others.

My brother seems to fit some of the criteria, and after reading about the way that fragile x is passed on to sons by female carriers, and the high probability of this happening if you are a carrier (50% as I understand) I am wondering whether I should have a private test to establish if I am a carrier, to either move forward in preparing for the future, or to rule the condition out for peace of mind.

My (now adult) brother has a severe speech impairment, which makes him difficult to understand to some strangers, and moderate learning difficulties. He can hold full conversations and doesn't seem to have any language processing problems; his speech is limited by others understanding it. He learnt to talk very late (after 5) and attended specialist schooling because of this. His learning difficulties do not stop him travelling independently and being quite sharp in some ways (for example handling money), and he has worked in a shop. However, his literacy skills are weak.

Other signs that perhaps point to fragile x are some physical facial characteristics such as a reasonably long face/large forehead/somewhat protruding ears, but these do in some way resemble family members who have no learning difficulties. Further symptoms of fragile x such as joint flexibility, autistic tendencies, hand flapping, sensory issues do not fit at all. In addition, there are some issues around attachment and early childhood neglect that may have exacerbated any developmental delays.

I understand not all carriers show any signs, but from what I have read, I show none nor does my sister or mother.

I would really welcome any insight, particularly from other people who have had the carrier test, or with siblings with learning difficulties. Many thanks!

Pixellator Mon 05-Jan-15 18:48:12

Hi I have pmd you.thanks

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