Comments on: Autism or Fragile X? A Rare Emotional Post http://sherryness.com/autism-or-fragile-x-a-rare-emotional-post/ Wed, 25 May 2011 21:37:44 +0000 hourly 1 http://wordpress.org/?v=3.3.2 By: admin http://sherryness.com/autism-or-fragile-x-a-rare-emotional-post/comment-page-1/#comment-752 admin Thu, 07 Feb 2008 01:07:57 +0000 http://sherryness.com/?p=79#comment-752 Sally, thank you for adding to this post. I usually see "large" or "protruding" also, but I did see "pointy" or "coming to a point" somehwere as well. I think that may have been one of the things that geared me towards thinking of Fragile X while trying to figure out the problem. Sometimes I'm convinced it's Fragile X, other times I feel I am grasping at straws. I guess that's why I'm looking forward so much to getting this test done. I really appreciate the specifics on the tests , too. I will print it out and take it with me when I go. Travel was "not advised" today here in Iowa. Hopefully tomorrow will be better. Oh, and thank you for the compliment about Charlie - all of the pictures are of him, just at different ages. I only have the one child; I just take a LOT of pictures of him! :) Sally, thank you for adding to this post. I usually see “large” or “protruding” also, but I did see “pointy” or “coming to a point” somehwere as well. I think that may have been one of the things that geared me towards thinking of Fragile X while trying to figure out the problem.

Sometimes I’m convinced it’s Fragile X, other times I feel I am grasping at straws. I guess that’s why I’m looking forward so much to getting this test done.

I really appreciate the specifics on the tests , too. I will print it out and take it with me when I go. Travel was “not advised” today here in Iowa. Hopefully tomorrow will be better.

Oh, and thank you for the compliment about Charlie – all of the pictures are of him, just at different ages. I only have the one child; I just take a LOT of pictures of him! :)

]]> By: Sally N http://sherryness.com/autism-or-fragile-x-a-rare-emotional-post/comment-page-1/#comment-751 Sally N Thu, 07 Feb 2008 00:58:26 +0000 http://sherryness.com/?p=79#comment-751 Just want to clear up some things on your description of FX, physical features - typically, the ears are defined as protruding (I've never seen pointy referenced, but maybe I've missed it, check out fraxa.org and fragilex.org) and they may have an elongated face. Often the physical features may not be present, or they may become more pronounced as the child ages. The problem with the physical features is quite often, individuals without FX may have the same features, bigger ears, long face, and sometimes individuals with FX have (especially girls) have none, or only minor, features. Your boys are adorable! Word of caution on the FX test, make sure they do a Southern Blot DNA test with PCR Analysis. Fragile X Syndrome: Diagnostic and Carrier Testing, http://www.acmg.net/StaticContent/StaticPages/FragileX.pdf For an online support group I recommend the FRAXA Listserv http://www.fraxa.org/getInvolved_listserv.aspx hugs Just want to clear up some things on your description of FX, physical features – typically, the ears are defined as protruding (I’ve never seen pointy referenced, but maybe I’ve missed it, check out fraxa.org and fragilex.org) and they may have an elongated face. Often the physical features may not be present, or they may become more pronounced as the child ages. The problem with the physical features is quite often, individuals without FX may have the same features, bigger ears, long face, and sometimes individuals with FX have (especially girls) have none, or only minor, features.

Your boys are adorable!

Word of caution on the FX test, make sure they do a Southern Blot DNA test with PCR Analysis. Fragile X Syndrome: Diagnostic and Carrier Testing, http://www.acmg.net/StaticContent/StaticPages/FragileX.pdf

For an online support group I recommend the FRAXA Listserv
http://www.fraxa.org/getInvolved_listserv.aspx

hugs

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