Fragile x or Timothy syndrome?

[micah_mae_]

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? 

[Mittsy]

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!

[micah_mae_]

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?

[beenmum]

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.

[mrsfru]

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

[Emmeline II]

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

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

[micah_mae_]

Originally Posted by beenmum 

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. :)

Originally Posted by mrsfru 

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.

Originally Posted by Emmeline II 

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

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

Thanks!