What I want you to know about Fragile X Syndrome.

Tomorrow, July 22nd, is Fragile X Awareness Day. I thought I’d take a minute to share what I wish the general public knew about Fragile X Syndrome.

  1. It exists.
  2. It may be in your family.
  3. You won’t know unless you’re tested.
  4. If you are planning to have a baby and you are offered genetic testing, you should ask about it. It isn’t a test a GYN will typically order.

I have a couple more things to add for those of you related to me on my maternal side (Coles, Gerrishes)

  1. It is in your family.
  2. There are 2 boys with the full mutation and at least 6 carriers spread through 5 generations.
  3. If your grandfather or grandmother was diagnosed with Parkinson’s (and I know some of them were) there’s a chance that it is (or was) Fragile X Associated Tremor/Ataxia Syndrome or FXTAS and you should be tested.
  4. You should be tested even if your kids don’t show any symptoms.
  5. You don’t want to wait until it shows up in your grandkids or great grandkids, it will rip your heart out.
  6. I can help you walk through the family tree if you are still not sure.
  7. I love you all 🙂

 

Visit the National Fragile X Foundation for more information.

10 thoughts on “What I want you to know about Fragile X Syndrome.

  • July 21, 2011 at 12:36 pm
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    I teared up when I read your post today. Not the first time. But the way you wrote it was wonderful! If only members of my family at family reunions would listen. What you wrote was so true – the heartbreak of grandparents! Thank you!

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  • July 21, 2011 at 12:45 pm
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    Thank you!

    A couple weeks ago, my mom and I talked about Fragile X and what it’s doing to me, what it means for my hopes for Monkey and what it has done to my hopes for a larger family and the pain I see in her eyes kills me. I wish she didn’t feel so guilty, she didn’t know.

    My extended family no longer has that to fall back on though. They know.

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  • July 21, 2011 at 12:47 pm
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    I’m a firm believer of the KISS principle. Less chance I make a mistake, lol.

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  • July 21, 2011 at 12:52 pm
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    Do you mind if I take that family stuff and tag it on my awareness day post for tomorrow? I have a few family that may be helpful for and you put it down in words so well.

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  • July 21, 2011 at 12:55 pm
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    I have a cousin who should definitely take notice of #5 in the list for your family. He could be a carrier and doesn’t know, and he has a daughter. I can’t make them realize they need to find out…..

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  • July 21, 2011 at 1:13 pm
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    Because his daughter is “fine” I’m sure. But if he ever has to face her when her child is diagnosed and he didn’t tell her, he will regret it for the rest of his life. *sigh*

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  • July 21, 2011 at 1:17 pm
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    Since you already gave Julie permission to share, I’m going to as well! Very straight forward post!

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  • July 21, 2011 at 2:05 pm
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    nicely put Umma! I think a lot of families are in a denial state about carriers. I am 1 of 11 and the odds that I am the only one are slim, yet only 2 of my sibs have been tested. I am gonna post this and I hope they read it and more will decide to get tested. Thanks!

    Reply
  • July 22, 2011 at 8:30 pm
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    Thank you. Well said. Thank you.

    Reply

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