Fragile X

Has anyone else been told they are a carrier?? I just got off the phone with my RE and on top of everything else going on right now they tell me Im a carrier...I am freaking out right now and dont know if I want to go forward with my IVF...

Re: Fragile X

I was told by my RE that I am in the intermediate zone for Fragile X (54 alleles) I like yourself panicked and were just about to embark upon our first FET ( I have 2 healthy children already, at the time testing was not as common)

I met with a genetics counselor, who to be honest freaked me out even further (FM and I will gladly tell you who) ...I took it a step further and contacted LeAnne Abrams who is one of the head geneticists from The National Fragile X Foundation who completely put my mind at ease and told me she would hand in her license if a child of mine were to come back as a full mutation of Fragile X...

Meanwhile I had the local genetic counselor (who is NOT a specialist in the Fragile X field) tell me that the only way she would reccomend that we go through w/ a transfer was to do PGD and choose only girls or to have a CVS done to rule it out....

I unfortunately became well versed and researched this to death, so feel free to FM me and I will gladly share any knowledge I have on this with you ...I too was an absolute mess but after researching the odds and reaching out to an expert in the field we went foorward with the transfer and am 5 months along with baby # 3


ETA......This is a great site and resource
http://www.fragilex.org/html/carriers.htm

Message edited 11/8/2010 4:31:37 PM.

Re: Fragile X

hi - i saw your post on pregnancy and wanted to comment.

I am a carrier for Fragile X. I found out when I was pregnant with my daughter and i will never forget where i was, what i was doing...i felt like my life ended.

we were told we had to go for genetic counselling and our appointment was Christmas Eve 2 years ago. i kept telling myself - it'll either be a merry christmas or the worst one ever.

after the appointment - the clouds parted and i felt a lot better. the counsellor told us everything in the most simple of terms. basically there are 'levels'. let's say (i don't remember the exacts) you are number 10 - that is the first level. that means you carry it and will pass it onto your female child. if you have a son - he will POSSIBLY display characteristics (but there is no guarantee). Your female child will then pass your number onto her little girl (her number can go up or down - it's a crap shoot).

Let's say 11 is the start of the next level (i was ONE point above the lowest level). The chances now increase of characteristics in boys and giving to your daughter.

The third & final level starts at, let's say 20...and then your son will almost definitely have characteristics (i don't recall what they are, i'm sorry) and your daughter will definitely carry the high number and pass it to her daughter and possibly can have a fragile x son.

When i said to the counsellor - so, once my daughter (we knew we were having a girl) is of 'child bearing age'....i should sit down and talk to her about this? And the counsellor said, honestly, no. there have been LEAPS & BOUNDS made in this area of study and it's likely by the time your baby is old enough - there will be a replacement gene to fix it. there have already been successful tests in rabits...so there's a lot of hope.

i am sorry that this is so long - but honestly, i remember this news devestated me...i was on the couch, watching rudolph for the first time with my 'daughter in my belly' when i got the call....and just cried for 2 hours until my husband got home from work... it's not the end of the world though - so keep hope and get in to see a genetic counsellor!!!!

if you have ANY ANY ANY questions, FM me!