Fragile X Syndrome

mw9121970

Just wondering if anyone out there knows anything about this syndrome. Can anyone suggest a good uptodate website?

ChewChew

My Nephew was diagnosed with this 2 weeks ago absolutely devastating news so we are trying to educate ourselves now. I found though that this site is actually really good: http://www.fragilex-ireland.org/

mw9121970

ChewChew wrote: »

My Nephew was diagnosed with this 2 weeks ago absolutely devastating news so we are trying to educate ourselves now. I found though that this site is actually really good: http://www.fragilex-ireland.org/

I'm so sorry to hear of your nephew. Thank you very much for the website, I really appreciate this and wish your family the best.

ChewChew

mw9121970 wrote: »

I'm so sorry to hear of your nephew. Thank you very much for the website, I really appreciate this and wish your family the best.

thanks very much and same to you! there's alot of information out there, but very typical old terminology and every site refers to it as Mental retardation.. which I suppose it is, but I just absolutely hate that term

mw9121970

ChewChew wrote: »

thanks very much and same to you! there's alot of information out there, but very typical old terminology and every site refers to it as Mental retardation.. which I suppose it is, but I just absolutely hate that term

There is so much new information in certain areas available on the internet now, I remember looking when my daughter was born, but then there was no information available, but now there is so much it's hard to know where to start. My nephews who are full mutation fragile x are teenagers now and are absolutely wonderful.

With all the information that is available now, particularly with how many people it affects, (I'm not anyone important) but I would like there to be a greater understanding of this syndrome and this can only come about by people talking about their experiences.

ChewChew

We're pretty clueless to be honest, because this is brand new to us. My nephew is only 18 months old, and we only got the diagnosis 2 weeks ago and we dont really know what to expect, or what to do right now! Current steps being taken are physio and OT etc

Sally_Nada

Males or females can be carriers of fragile X, as noted previously a visit to a genetic counselor would be a wise choice, you could rule it out or in. It does not matter if you have the "SAME" parents (only one parent needs to be a carrier for it to be passed on.)

On the web your best resources for fragile X are FRAXA.org or FragileX.org, another helpful site to understand inheritence is YGYH.org the Fragile X page.

Daniuy

mw9121970 wrote: »

Just wondering if anyone out there knows anything about this syndrome. Can anyone suggest a good uptodate website?

I know this syndrome very well, if you have any doubt I could help
a very good website is www.NFXF.org

Daniuy

ChewChew wrote: »

We're pretty clueless to be honest, because this is brand new to us. My nephew is only 18 months old, and we only got the diagnosis 2 weeks ago and we dont really know what to expect, or what to do right now! Current steps being taken are physio and OT etc

If you are new in FX try www.NFXF.org also www.fraxa.org
If you have questions I could help I have a 16 years old son who is affected and I´ve been studing FXS since 1998 in diferent countries and @ International conferences . I would be glad if I could help

mw9121970

Daniuy wrote: »

If you are new in FX try www.NFXF.org also www.fraxa.org
If you have questions I could help I have a 16 years old son who is affected and I´ve been studing FXS since 1998 in diferent countries and @ International conferences . I would be glad if I could help

These are fantistic websites thank you. Up to a few months ago I believed, like many others, that fragile x does not affect females so I found these websites very interesting. Your reply is very much appreciated.

TOMP

Anyone know of any independent lab in Ireland or UK that can do test for Fragile X ?