You must first be logged in to edit a post.
If you are not registered, please click "Create Account".
| Posted By |
Message |
spa118
LIF Adult
Member since 3/09 2157 total posts
Name:
Shari
|
Fragile X -- UPDATE
Was anyone tested for this?
When I met with the genetic counselor at my NT scan, she told me that I was never tested for it, she told me about that and 3 other things I was never tested for (can't remember what they were), and I got tested for them right then and there. MY OB never mentioned any of these disorders to me. I got a call today from my OB's office saying that they just got the result from my fagile x test, and I have a gene mutation, and she can't explain it to me, I have to make an appointment with the genetic counselor.
Some of you may remember me going crazy about being tested for Thrombosis - same genetic counselor scared the crap out of me.....
So, I have an appt. with another genetic counselor ( I refuse to see the one I saw last time, she was not nice and very condescending) to discuss the results on Monday - but I don't know if I can wait that long!
I did some research, and it seems to me like some forms of fragile x are no big deal (mild learning disabilities) and some are severe mental retardation.
I am about to lose my mind - I feel like I'm just getting stressful news about something else every other day!
Anyone else go through this?
Thanks for reading this far. I could use some insight, assurance, and
UPDATE: The Genetic Counselor I like is squeezing me in. We have an 11:00 appt. and are leaving now. Wish me luck!
Message edited 7/1/2009 10:14:45 AM.
|
Posted 6/30/09 8:44 PM  |
| |
|
Long Island Weddings
Long Island's Largest Bridal Resource |
Shelleybean11
Mommy of 2!
Member since 12/08 11013 total posts
Name:
|
Re: Fragile X
I have no info on fragile x, just lots of and 
|
| Posted 6/30/09 9:41 PM |
| |
|
CarlieJLD7
I love my daughter!
Member since 7/07 3061 total posts
Name:
Carlie
|
Re: Fragile X
When I went to a genetics Counselor they also tested for this... I then went to my next OB apt and they were about to take blood and I told them the test I took at the Genetics Counselor and they were like... oh ok great...
So maybe your OB automatically did this, b/c mine was going to until I said that I already did it...
This was at my 16W sono... I don't know how far along you are... but maybe your gyno didn't do it yet... the Genetics Counselor did it around 12W for me...
Don't stress... its normal testing... But here are some prayers that everything works out... and huggies for stressing...
|
| Posted 6/30/09 10:04 PM |
| |
|
MrsR
My love.
Member since 5/05 6247 total posts
Name:
Jennifer
|
Re: Fragile X
I was tested for fragile x. I was tested because I went to a fertility clinic so they ran tests beyond what my OB ran.
He mentioned to me that it is a newer test and it is going to start becoming more routine.
ANYWAY - I came up positive for a mutation. It's very complicated - so you are best off getting the explanation from the genetics counselor, but depending on your mutation the chance of you having a child with fragile x is very very rare.
They want you to be tested because through the generations the risk of having fragile x may or may not increase...but it's something to tell your kids about and they should be tested as well when their time comes to have kids.
I was also scared, but after we saw the counselor it put my fears to rest.
FM me if you have any other questions.
It will be fine!
|
| Posted 6/30/09 10:11 PM |
| |
|
Angel321
...
Member since 4/08 15553 total posts
Name:
|
Re: Fragile X
do a search on my name and this topic. I had a similar experience.
FM me with ANY questions!!!!!!!!!
|
| Posted 6/30/09 11:10 PM |
| |
|
spa118
LIF Adult
Member since 3/09 2157 total posts
Name:
Shari
|
Re: Fragile X
Thank you ladies!
I don't know if I can wait til my appt on Monday - I will try to see if I can get a sooner appt and I'll keep you posted.
|
| Posted 6/30/09 11:30 PM |
| |
|
hbugal
Lesigh
Member since 2/07 15928 total posts
Name:
|
Re: Fragile X
Fragile X is a very tricky thing to describe..
Do you remember if your doctor said mutation or premutation???
Im sure everything is going to be just fine...
If you have any questions feel free to FM me...
Although it's been awhile, I went to school for Biology with the intentions of becoming a genetic counselor...along the way I had a daughter who has Down Syndrome so I chose a different path..I didnt think I could be non judgemental enough.
|
| Posted 6/30/09 11:35 PM |
| |
|
spa118
LIF Adult
Member since 3/09 2157 total posts
Name:
Shari
|
Re: Fragile X
Posted by hbugal
Fragile X is a very tricky thing to describe..
Do you remember if your doctor said mutation or premutation???
Im sure everything is going to be just fine...
If you have any questions feel free to FM me...
Although it's been awhile, I went to school for Biology with the intentions of becoming a genetic counselor...along the way I had a daughter who has Down Syndrome so I chose a different path..I didnt think I could be non judgemental enough.
thank you so much. I don't think I can even put together a meaningful question right now.
I didn't speak to the dr. It was his assistant who called me, and now that I think about it, I thought she said "gene mutation", but maybe she said "premutation? I hope it is the latter!
Jess - I just read your old thread - the way you were is exactly how I am now. Except I don't know my numbers at all. I need to call tomorrow and get more answers. I got this call when I was at work and not ready for it.
|
| Posted 6/30/09 11:50 PM |
| |
|
Angel321
...
Member since 4/08 15553 total posts
Name:
|
Re: Fragile X
Posted by spa118
Posted by hbugal
Fragile X is a very tricky thing to describe..
Do you remember if your doctor said mutation or premutation???
Im sure everything is going to be just fine...
If you have any questions feel free to FM me...
Although it's been awhile, I went to school for Biology with the intentions of becoming a genetic counselor...along the way I had a daughter who has Down Syndrome so I chose a different path..I didnt think I could be non judgemental enough.
thank you so much. I don't think I can even put together a meaningful question right now.
I didn't speak to the dr. It was his assistant who called me, and now that I think about it, I thought she said "gene mutation", but maybe she said "premutation? I hope it is the latter!
Jess - I just read your old thread - the way you were is exactly how I am now. Except I don't know my numbers at all. I need to call tomorrow and get more answers. I got this call when I was at work and not ready for it.
believe me love - i will never, EVER forget where i was and what i was doing when i got that call. i was on the couch - watching Rudolph and my heart snapped in half.
we had our genetic counselling appointment on Christmas Eve and were given a ton of info. What i loved about the counselor was that she 'dumbed it down' for us so wonderfully.
one thing that came of the appointment was that we were told that there is soooooo much research going on right now that by the time Emma is adult and of 'child bearing age' and we'd have to talk to her about her chance of passing it on to her kids....that we would NOT have to have that convo because it will likely not be an issue anymore. there have already been successful trials with rabbits - to replace the 'duplicated chromosome'...
try to relax and stay calm...you will get the answers you need!!!
|
| Posted 6/30/09 11:56 PM |
| |
|
spa118
LIF Adult
Member since 3/09 2157 total posts
Name:
Shari
|
Re: Fragile X -- UPDATE
Thank you Jess! I'm leaving now - she's squeezing me in - I'll keep you updated!
|
| Posted 7/1/09 10:16 AM |
| |
|
Angel321
...
Member since 4/08 15553 total posts
Name:
|
Re: Fragile X -- UPDATE
please let us know when you are back and have your info! FM me if you don't want to post!
i'm thinking of you!
|
| Posted 7/1/09 1:01 PM |
| |
|
ibl530
LIF Toddler
Member since 10/08 425 total posts
Name:
|
Re: Fragile X -- UPDATE
I have done extensive research on this as I am a fragile x carrier. I have seen genetic counselors, and even went through PGD/IVF to get rid of it.
It all depends on the type of mutation that you have.
I will FM you!
|
| Posted 7/1/09 2:27 PM |
| |
|
