Found out today I'm a fragile X carrier

MrsJaimebeth

my luck.  If there is something to have..I always seem to have it...I had done blood work 2 1/2 weeks ago....suggested by my RE...since I had just had 2 failed IVFs (with the second one being a chemical)....so fast forward to today...it took a while for the results to come in and they tell me that I am a carrier for fragile x...well isn't that fantabulous....I seem to fall into the "gray" area...they said..where I am not a carrier of the"full mutation" but the "pre-mutation".   She did say try not to worry (yea right)...She suggested I go for genteic counseling (already set the appt for next wed) and they would explain it all to me.  From my quick google search, it seems that "this gray area" will not affect my children, but it could affect my children's grandchildren???  I have no idea what it all means..to me it's just another blow...

I am enjoying my "break".  I will start the IVF process again on July 28th (the date they told me to start my meds, ofcourse assuming everything goes as planned)

So now, not only do I feel stressed about not being able to get pregant, when (or if) I do get pregnant, I will be in constant fear the child will be affected.....

I'm thinking about just throwing in the towel...but I will wait and see what the geneticist has to say...

Sorry Ive been somewhat MIA....I do try to read now and then!!!

Congrats on the all the BFPS!!! 

JMay

Oh JamieBeth, I'm so sorry to hear the news.  I'm glad you will be going in for the genetic consult - when will that be?  I've had you in my T&Ps for a while now and I'll continue to keep you there.  If you wind up with another sweet babe or decide you are happy as 3, I wish you peace of heart, mind and body. (HUG)

elisem42

hi jaime!!  just wanted to let you know that my best friend is also a carrier and when she went to meet with a counselor they explained to her that given her situations he may need to do IVF....she never had to bc they did very early genetic testing for her and her baby was okay ..my friend took a chance on this.......not that you want to be doing IVF...who the hell does.... but you are anyway...i know RMA does PGD, if they feel that's the way to go so i think you are going to be just fine!

sucks to find something else to worry about but i have good vibes on this one for you!

MrsJaimebeth

thanks girls!!! J-May, I go for genetic counseling next Wednesday....

elise, thanks for the info on your friend, glad it all worked out for her...i would do PGD, but Im not sure it's in the cards financially....we shall see what happens next week....to be continued  

choirgirl

I just can't imagine how you feel, this sucks so badly.

I really hope you get some good and reassuring answers from the genetic counselors.  

 

jtorgersen

So sorry to hear this news...I think I remember reading you go to RMA in NJ too...didn't they do the genetic counseling the first time you went.  I go to the Somerset office of RMA and on my first appt. we sat down with the genetic counseling...I'm just wondering why they didn't have you sit down with someone sooner.  Although from the looks of it....you do have a beautiful healthy daughter...and so thinking the news is just a bump in the road (not that it makes it any less easier to hear the news)...hopefully the genetic counselor will shed some light for you and calm your fears.  It always stinks when we get news that's followed by "you have nothing to worry about..." ...why do they tell us this then if it's "nothing to worry about"...think it makes us worry more.  Will be thinking of you.