Fragile X Syndrome

PurpleDiamond
PurpleDiamond Community Member Posts: 4 Listener
in Rare, invisible, & undiagnosed conditions

Hello all.

I’m looking into genetic testing for my child, including testing for Fragile X, to better understand whether there may be an underlying genetic cause for her learning disability.

For anyone whose child was later diagnosed with Fragile X Syndrome, would you feel comfortable sharing whether the diagnosis made a difference?

I would be especially grateful to know whether it helped with understanding your child’s needs, accessing further medical care, therapies, educational support, social care support, or any other services. Did it change anything in practical terms, or was it mainly helpful in giving you answers and a better understanding of your child?

I would also be interested to hear whether the diagnosis helped professionals take your child’s needs more seriously, or whether it made little difference to the support offered.

Thank you in advance to anyone willing to share their experience.

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Comments

  • elijahSC
    elijahSC Community Member Posts: 10 Listener

    i am not exactly the target audience for this question but fragile X is in my family, so i hope my response will help a little even though it isn’t exactly what you are looking for. a family member of mine was initially diagnosed with “mental retardation” decades ago and wasn’t diagnosed with fragile X for a long time after that. the reason my family got that diagnosis, as far as i am aware, was because they wanted an “answer” and that is what they got after a lot of searching.

    my mother is a carrier and i have the pre mutation of the gene. i was told that the pre mutation of the gene likely contributed to one of my disabilities and that gave me a lot of comfort, because even though it has absolutely no material impact on me, i feel better knowing even part of the “why.”

    i have also personally found it helpful to know that i carry the gene for other reasons. it informs family planning for me, but i understand that’s not everyone’s situation and that it is a (very understandably) emotional subject.

    i hope this might have helped at all. the main point is that it’s completely OK to want some kind of “reason” or certainty even if there isn’t material change.

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