Fragile x or Timothy syndrome? - Mothering Forums

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#1 of 7 Old 03-28-2011, 06:46 AM - Thread Starter
 
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Does anyone here have a child with either of these? I want to have Corbin tested for both, he has every single symptom of fragile x except we don't know if he has any heart issues..I started googling because he has pectus excavatum, syndactyly and autism so I figured they might all be connected...

I'm wondering where we go from here, if he does have it how likely are his siblings to have it? 

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#2 of 7 Old 03-28-2011, 08:51 AM
 
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Big hus to you!! I was tested for this during my first pregnancy, thanks to a lengthy family history of autism(almost all the boys in my immediate family). I tested negative for Fragile X. But, given family history, and other details, the geneticist is almost positive it's in my family; to the point where she encouraged me to tell any of my sisters who plan on getting pg to get tested. I'm pretty sure my brother, niece, and nephews(2 out of 3 at least), have Fragile X.  I would go to a geneticist and see what they find, good luck!


 

 

 

 

 

 


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#3 of 7 Old 03-28-2011, 08:56 AM - Thread Starter
 
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Thanks, we already know that he's autistic so it's not a big shock or anything..just makes me nervous because I have a 5 month old and I don't want him to have it too. Kwim?


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#4 of 7 Old 03-28-2011, 09:35 AM
 
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My DD was tested for this, we see the genetics on the 11th for the results. I dont have much to help you with...sorry.

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#5 of 7 Old 03-28-2011, 02:03 PM
 
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My 5.5 yr old has autism, syndactaly, congenital curly toe syndrome, a heart problem, and several other issues...and does NOT have fragile X.  I know it's not much...but many kids have similar combos, but don't have fragile X (at the least, not dx'able by todays testing/standards).

 

GL!  It's all so confusing sometimes!

 

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#6 of 7 Old 03-28-2011, 06:49 PM
 
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I found this site the last time I looked up fragileX.

 

http://www.fragilex.org/html/characteristics.htm


"It should be a rule in all prophylactic work that no harm should ever be unnecessarily inflicted on a healthy person (Sir Graham Wilson, The Hazards of Immunization, 1967)."
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#7 of 7 Old 03-29-2011, 03:08 AM - Thread Starter
 
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Quote:
Originally Posted by beenmum View Post

My DD was tested for this, we see the genetics on the 11th for the results. I dont have much to help you with...sorry.



Good luck, let me know what they say. :)



Quote:
Originally Posted by mrsfru View Post

My 5.5 yr old has autism, syndactaly, congenital curly toe syndrome, a heart problem, and several other issues...and does NOT have fragile X.  I know it's not much...but many kids have similar combos, but don't have fragile X (at the least, not dx'able by todays testing/standards).

 

GL!  It's all so confusing sometimes!

 

mrsfru



Thanks this makes me feel a bit better. It is confusing but *sigh* we'll see.



Quote:
Originally Posted by Emmeline II View Post

I found this site the last time I looked up fragileX.

 

http://www.fragilex.org/html/characteristics.htm



Thanks!


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