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mikeswife06
Drama Momma
Member since 9/06 9947 total posts
Name:
Anne
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My SIL got some disheartening news UPDATE 7/12
As you may remember I asked for many prayers for my brother and SIL who were TTC but she is 38 and in early menopause. They "miraculously" (according to doctors) got pregnant.
Well, her ultrascreen results came back 1 in 19 for Downs. The genetic counselor said she thinks she might have "Fragile X Syndrome" which may have caused her to go into early menopause.
Why do your chances for Downs go up with age? Has anyone had any experience with fragile x syndrome? Can you spare some prayers? She is having an amnio in 2 weeks. Thanks ladies. 
ETA: UPDATE 7/9/08
She had CVS done almost 3 weeks ago and we are still waiting for results. The sample was not good so they let it grow an extra week. But her fragile X test came back negative which was good. Hopefully we will know more before the end of the week. Thanks again for all the prayers.
7/12
We found out yesterday that the baby has DS. We spent the night with my brother and SIL last night. I have no clue what is going to happen now. Believe me, I know this is not the end of the world but it feels that way to them right now and they are not exactly agreeing on what to do next so it is very upsetting. I just wish and hope that they can come together at this time and make the best decision for themselves and this child, together. Either way I support them 100%.Thanks everyone for your thoughts and prayers.
Message edited 7/12/2008 9:39:25 AM.
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Posted 6/17/08 7:14 AM  |
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sunflowerjesss
Mommy to 3!
Member since 10/05 20369 total posts
Name:
Jesss, duh.
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Re: My SIL got some disheartening news
I'm sorry I can't offer any advice regarding genetic disorders. But I did want to send along for your SIL and brother.
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| Posted 6/17/08 7:18 AM |
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Re: My SIL got some disheartening news
I can't offer any advice either but sending her way.
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| Posted 6/17/08 7:20 AM |
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hbugal
Lesigh
Member since 2/07 15928 total posts
Name:
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Re: My SIL got some disheartening news
Most cases of Down syndrome seem to start from nondisjunction during meiosis. Exactly why and what causes these chromosomes to segregate abnormally in older women is unclear..
As far as the Fragile X is concerned it's an X linked form of mental retardation. Females with the condition can technically be normal b/c while they have the abnormal X they have a normal X to "counteract" the abnormal one..Do you have any family history of mental retardation??
Fragile X is an inherited disorder..
FM me if you want more info..Im not a doctor or anything. My daughter has Down Syndrome..(Im not an expert but I know more than I should on these types of things)
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| Posted 6/17/08 8:10 AM |
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JP826
=)
Member since 9/06 10903 total posts
Name:
Me!! All about ME!
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Re: My SIL got some disheartening news
I too have no advice for you on this. I just wanted to offer some for your SIL & your brother.
Message edited 6/17/2008 8:20:59 AM.
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| Posted 6/17/08 8:20 AM |
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MrsO
Big Brothers to Be
Member since 1/07 4521 total posts
Name:
Maureen
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Re: My SIL got some disheartening news
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| Posted 6/17/08 8:25 AM |
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pickles16
Real Estate Professional
Member since 11/07 17227 total posts
Name:
Jen
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Re: My SIL got some disheartening news
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| Posted 6/17/08 8:26 AM |
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neener1211
:-)
Member since 4/07 22952 total posts
Name:
J
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Re: My SIL got some disheartening news
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| Posted 6/17/08 8:38 AM |
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1stimemom
Love my boys
Member since 2/08 8766 total posts
Name:
Mrs Dee
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Re: My SIL got some disheartening news
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| Posted 6/17/08 8:39 AM |
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GaknTak
He has my heart
Member since 12/07 1379 total posts
Name:
Tracy
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Re: My SIL got some disheartening news
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| Posted 6/17/08 8:50 AM |
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headoverheels
s'il vous plaît
Member since 6/07 42079 total posts
Name:
LB
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Re: My SIL got some disheartening news
i hope everything turns out okay
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| Posted 6/17/08 8:53 AM |
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tiki03
*************
Member since 9/05 8660 total posts
Name:
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Re: My SIL got some disheartening news
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| Posted 6/17/08 9:01 AM |
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GoingNutty
Our family
Member since 5/05 2272 total posts
Name:
Jennie
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Re: My SIL got some disheartening news
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| Posted 6/17/08 9:19 AM |
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DeniseMarie
<3
Member since 8/07 10682 total posts
Name:
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Re: My SIL got some disheartening news
many prayers for them
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| Posted 6/17/08 9:33 AM |
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luckystars3
2015
Member since 11/07 2378 total posts
Name:
Julie
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Re: My SIL got some disheartening news
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| Posted 6/17/08 9:36 AM |
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mskimmy98
My twins are one!!!
Member since 5/05 2540 total posts
Name:
Kimberly
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Re: My SIL got some disheartening news
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| Posted 6/17/08 9:40 AM |
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betty
My boys
Member since 5/05 4380 total posts
Name:
Beth
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Re: My SIL got some disheartening news
Many for them
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| Posted 6/17/08 9:46 AM |
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jprimrose
I love my little munchkins!
Member since 10/05 3939 total posts
Name:
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Re: My SIL got some disheartening news
I am so sorry.
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| Posted 6/17/08 9:55 AM |
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hmm8191
My loves
Member since 3/06 2908 total posts
Name:
Heather
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Re: My SIL got some disheartening news
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| Posted 6/17/08 9:57 AM |
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Stephybaby
Love my two girls!!
Member since 11/07 1966 total posts
Name:
Stephy
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Re: My SIL got some disheartening news
My heart goes out to your brother and SIL....I will be praying for them and their LO.
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| Posted 6/17/08 10:08 AM |
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MrsS2005
Mom of 3
Member since 11/05 13118 total posts
Name:
B
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Re: My SIL got some disheartening news
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| Posted 6/17/08 10:46 AM |
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Celt
~~~~~~~~~~
Member since 4/08 7758 total posts
Name:
colette
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Re: My SIL got some disheartening news
TONS of prayers for them alll!!
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| Posted 6/17/08 10:53 AM |
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Goobster
:)
Member since 5/07 27557 total posts
Name:
:)
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Re: My SIL got some disheartening news
Did they see any physical markers or are they basing the odds on her age/blood results?
Honestly, I believe fragile x causes much earlier menopause than someone who is 38, more like 20s but I could be wrong. Simply based on her age alone, her risk of Downs technically would be elevated. So the question is how were the physical measurements on the ultrascreen?
I will pray for them.
Message edited 6/17/2008 11:38:37 AM.
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| Posted 6/17/08 11:38 AM |
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GraciesMom
LIF Adult
Member since 7/05 1636 total posts
Name:
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Re: My SIL got some disheartening news
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| Posted 6/17/08 11:50 AM |
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DRMom
Two in Blue
Member since 5/05 20223 total posts
Name:
Melissa
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Re: My SIL got some disheartening news
One way to think of it is she has 1 chance that her baby will be born with downs and 18 that it will not! These tests are NOT conclusive and her odds may have changed if you take her age out of the equation. Best of luck to her. There is a simple blood test for Fragile X did she get it?
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| Posted 6/17/08 11:54 AM |
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