fragile X syndrome can someone please give me advise?

Question

i have 2 step daughters that i bring up as my own with there real dad. the girls have global development delay (GDD) and are carriers of fragile X syndrome. there real mother has learning difficulty's but wont get blood test done to help us out on pin pointing exactly what she has.which would help us with the girls.

do my daughters have GDD because they are carriers of fragile X ?? and is it likely that there real mum has fragile X syndrome and that that's why they girls have what they have?? my husband has been tested for fragile X and came back clear so we know that it hasn't came from him.

i am just wondering if the girls GDD is due to the fragile X, and are they carriers because maybe there mother actually has fragile X??

can someone please help as she wont get tested (even tho she has had 4kids and every1 been taken off her,all 4 have difficulty's) and when we talk to our paediatrician about fragile x syndrome we just get told to wait until the girls are 16yrs old??

PLEASE HELP

Answer 1

It's likely that your daughter's inherited the FXS gene from their birth mother and this has caused their GDD. They will also be at risk of passing it onto any children they have.

I'm not sure that pushing her to take tests will achieve anything other than confirming what you already know.

You both need to stay strong and carry on caring for your girls, I wish you lots of luck x

Answer 2

Males will only pass the gene to their daughters, and typically they will only be carriers. If you are so concerned as to where it came from, have your husband tested, rule it in or out, which I've noticed you said you did, but make sure they ran the correct test - did they do a FMR1 DNA test? May also be known as Southern Blot with PCR analysis- if they did your husband should have been given a CGG repeat number, should have been less than 50. If they ran a chromosome analysis test he should be retested, this test has proven to be unreliable in diagnosing fragile X.



There is such a thing as an affected carrier, it doesn't happen often but a carrier could present with full-mutation symptoms.



I recommend the sites below if you wish to learn more about fragile X.



How would you know that the girls are carriers if they have never been tested? Why is the ped waiting until they are 16? What does he hope that will happen at that age? Does he realize that new medications are actually moving to Phase II and III clinical trials they may be used to treat the symptoms of fragile X. Does he realize the impact fragile X could have on a family across generations? Hmmm, maybe you should get a new ped? Have you tried visiting a genetic counselor?

Answer 3

Must of got it from mommy.