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Spinal muscular Atrophy
Anyone familiar with this, this is a recent test they are doing and i showed up as a carrier and so did DH, so there is a 25% chance the baby could be born with it.....We already decided we are not doing an amnio, but just wondering if anyone else has dealt with this
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Posted 8/25/08 6:56 PM  |
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Diana1215
Living on a prayer!!!
Member since 10/05 29450 total posts
Name:
Diana
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Re: Spinal muscular Atrophy
never had to deal with it - just wanted to give you  and I'm sure everything is going to be perfect!
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| Posted 8/25/08 8:59 PM |
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Re: Spinal muscular Atrophy
Thank you I will just stay positive
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| Posted 8/26/08 7:32 AM |
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smdl
I love Gary too..on a plate!
Member since 5/06 32461 total posts
Name:
me
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Re: Spinal muscular Atrophy
I don't know any test as accurate as the amnio.
Most tests are "speculation". More like probabilities. There are not accurate to my knowledge when I talked to the Genetic counselor and my OB last year. Most of a "possibility".
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| Posted 8/26/08 7:43 AM |
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Goobster
:)
Member since 5/07 27557 total posts
Name:
:)
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Re: Spinal muscular Atrophy
I am sorry you are dealing with this.
I don't have experience with it, we weren't even tested for it.
 
Message edited 4/21/2009 2:41:41 PM.
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| Posted 8/26/08 8:50 AM |
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Re: Spinal muscular Atrophy
Posted by Goobster
I am sorry you are dealing with this.
I don't have experience with it, we weren't even tested for it. But just wanted to say...I think that the more they test us for, the more things they are going to find in ALL of us.
I have never even heard of this, how common is it really? All this testing makes me wonder how ANYONE ever has a baby who is healthy (which odds are that a baby WILL be healthy).Years ago, they didn't have any of these tests. When it comes to genetic things, what control do we really have? We can't prevent them, so part of me says must we know EVERYTHING that is a possibility? Sometimes I do think ignorance is bliss, it is very upsetting to know every single thing that COULD be wrong.
Am I making sense?
You are totally making sense, and it makes me skeptical that they just started testing for it??? No one even really knows what they are talking about when they try to describe to me, I do think your right about the testing, which is why the next time I go to my doctor I am opting out of the AFP, my ultrascreen test came back great and feel no reason to do this,
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| Posted 8/26/08 9:06 AM |
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Goobster
:)
Member since 5/07 27557 total posts
Name:
:)
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Re: Spinal muscular Atrophy
Posted by secretbabymaker
Posted by Goobster
I am sorry you are dealing with this.
I don't have experience with it, we weren't even tested for it. But just wanted to say...I think that the more they test us for, the more things they are going to find in ALL of us.
I have never even heard of this, how common is it really? All this testing makes me wonder how ANYONE ever has a baby who is healthy (which odds are that a baby WILL be healthy).Years ago, they didn't have any of these tests. When it comes to genetic things, what control do we really have? We can't prevent them, so part of me says must we know EVERYTHING that is a possibility? Sometimes I do think ignorance is bliss, it is very upsetting to know every single thing that COULD be wrong.
Am I making sense?
You are totally making sense, and it makes me skeptical that they just started testing for it??? No one even really knows what they are talking about when they try to describe to me, I do think your right about the testing, which is why the next time I go to my doctor I am opting out of the AFP, my ultrascreen test came back great and feel no reason to do this,
So they can't even tell you about it? That's odd. As for the AFP, I will speak about this if you don't mind. The ultrascreen does not test for neural tube defects, whereas that is what the AFP is for. AFP can also help detect down's, but it is the only blood test for neural tube defects that we all have a risk for.
That being said, I knew the AFP had a high false + rate. I had the test anyway, b/c I do believe it holds weight in regards to neural tube issues. Lo and behold, my AFP came back as a borderline elevation for a neural tube defect. I was very upset to say the least. My dr told me he believed it was a false + in my case, so practice calls for a retest when you have a borderline elevation. My retest came back great. Had the retest come back abnormal, he would have sent me for a high resolution sono to look at the brain and spine, which would likely clearly show any problems. So IF you got an abnormal AFP for neural tube issues, there is a way they can verify that. What's my point? My point is IMO, I do believe the AFP holds weight and I would do it again if I got pg again. It also can indicate placental insufficiency which would lead to increased monitoring, which would only help you.
There is another poster on here who was in a terrible situation. She did not do the AFP, and found out about a whole month later at her level 2 that her baby had a condition incompatible with life, called anencephaly. She is a big supporter of this AFP testing now.
So I just wanted to share this perspective with you, so you can fully decide if you want the AFP test. But yes, MANY women do OPT out of the AFP in addition. It's a personal choice, but i just wanted to share what I know with you.
Message edited 8/26/2008 9:18:32 AM.
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| Posted 8/26/08 9:16 AM |
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Re: Spinal muscular Atrophy
Thank you, I didnt know all that
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| Posted 8/26/08 9:21 AM |
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Goobster
:)
Member since 5/07 27557 total posts
Name:
:)
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Re: Spinal muscular Atrophy
Posted by secretbabymaker
Thank you, I didnt know all that
It's sad but sometimes the drs offices really don't explain things to us. That's why I wanted to share with you so you can be sure about the decisions you make.
HTH
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| Posted 8/26/08 9:25 AM |
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MommyofG
just the girls
Member since 5/05 9461 total posts
Name:
Janice
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Re: Spinal muscular Atrophy
my coworker is dealing with this right now and this is what she said.
She came up positive for it, they are testing her DH to see if he is too, if he is the prognosis is not good and they would have to terminate unless the amnio comes back ok.
According to her dr. the childs muscles do not develop and cannot survive.
Again I am only going by what she told us all last week and she was crying hysterical, I felt so bad and wish I could take it all away. She finds out this week if she needs an amnio if her DH comes up +.
She see's a well known high risk dr here in nassau.
I wish you all the best
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| Posted 8/26/08 10:04 AM |
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hbugal
Lesigh
Member since 2/07 15928 total posts
Name:
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Re: Spinal muscular Atrophy
Spinal Muscular Atrophy is a autosomal recessive disorder. (there is a dominant version of the disorder but your doctor told you that you are both a carrier so you are speaking of the recessive version).
B/C you and your DH are both carriers you have a 25% chance that the baby has the disorder. (25% chance "normal", 50% chance "carrier", and 25% chance "affected") The disorders that are grouped together as SMAs are the second most common autosomal recessive disorder. The first is Cystic Fibrosis.
You and DH being carriers affects this pregnancy as well as any subsequent pregnancy. Generally speaking you have a 25% chance of having a child with the disorder.
The severity of the disorder depends upon the onset of symptoms. It has to do with the loss of motor neurons in the spine and brainstem.
Im not trying to scare you. Please dont take my information that way. But this is something that you need to become informed on. Hopefully your baby will not have the disease. But it will need to be taken into consideration if you are planning on having more children.
Please feel free to FM me. Ive only known 2 children with the disorder and it was quite awhile ago. But Im sure I can find moms #.
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| Posted 8/26/08 10:05 AM |
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Re: Spinal muscular Atrophy
No your not scaring me I read all of this, onthe internet in the last weeks, I think we will talk to the genetic counselor for all the info on the testing
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| Posted 8/26/08 10:11 AM |
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wannabemom
look who's freshly baked!
Member since 12/07 7364 total posts
Name:
aka marriedinportjeff
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Re: Spinal muscular Atrophy
ugh, I'm so sorry!
Just an FYI... the ultrascreen and AFP wouldn't detect this disease. only genetic testing (amnio) would. But, I appreciate your decision to not know the definitive diagnosis whether the disease is present or not in your baby.
I'm shocked your Dr. didn't provide info about the condition. I managed to Wiki it in a matter of seconds. It's a genetic disease where the baby develops normally and the disease is dormant until it suddenly rears it's ugly head. the motor neurons connecting the spinal cord to major muscles begin to degrade one by one, which makes muscular movement increasingly difficult.
definitely google it and read-up
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| Posted 8/26/08 10:11 AM |
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Goobster
:)
Member since 5/07 27557 total posts
Name:
:)
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Re: Spinal muscular Atrophy
Posted by hbugal
Spinal Muscular Atrophy is a autosomal recessive disorder. The disorders that are grouped together as SMAs are the second most common autosomal recessive disorder. The first is Cystic Fibrosis.
I wonder why they haven't tested us for it then? I don't know anyone else who was tested for it,either.
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| Posted 8/26/08 10:13 AM |
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hbugal
Lesigh
Member since 2/07 15928 total posts
Name:
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Re: Spinal muscular Atrophy
Posted by Goobster
Posted by hbugal
Spinal Muscular Atrophy is a autosomal recessive disorder. The disorders that are grouped together as SMAs are the second most common autosomal recessive disorder. The first is Cystic Fibrosis.
I wonder why they haven't tested us for it then? I don't know anyone else who was tested for it,either.
Honestly I dont know...although Im going to make an assumption that maybe they do test you for it..they just dont tell you unless you are a carrier...
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| Posted 8/26/08 2:08 PM |
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Re: Spinal muscular Atrophy
No I spoke to my doctors office they said they just started testing for this like in may
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| Posted 8/26/08 2:16 PM |
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astroqueen74
Vibrant Health
Member since 1/07 2822 total posts
Name:
Karina
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Re: Spinal muscular Atrophy
I am very sorry to hear this. I found this link. Maybe it can help you.
http://www.mda.org/
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| Posted 8/26/08 2:47 PM |
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hmm8191
My loves
Member since 3/06 2908 total posts
Name:
Heather
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Re: Spinal muscular Atrophy
I'm sorry I can't offer any words of wisdom or advice but you are in my prayers. 
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| Posted 8/26/08 3:00 PM |
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Re: Spinal muscular Atrophy
Thanks I am very optomistic, My husband and I will get retested to see if we are carriers if so, the baby has a 75% CHANCE OF BEING UNAFFECTED, which I think is pretty good!!!!
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| Posted 8/26/08 3:16 PM |
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Re: Spinal muscular Atrophy
New update sort of I called my old obgyn and they dont routinely test for this, only on women who have multiple miscarriages, this is not part of there prenantal blood tests. So not sure why this dr chose to
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| Posted 8/26/08 4:14 PM |
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sunshine28
LIF Adolescent
Member since 8/08 501 total posts
Name:
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Re: Spinal muscular Atrophy
I see an RE and was recently tested for this. It turns out I am a carrier, but my husband is not. He explained that the test is brand new and when I had the karyotyping done after my 2nd m/c the test wasn't around yet.
I still spoke with a genetic counselor about it even though my husband wasn't a carrier. I highly recommend you do the same. If not, find an obgyn that knows about it. I don't mean to alarm you, but it's something you should know about.
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| Posted 8/29/08 9:38 AM |
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Re: Spinal muscular Atrophy
Posted by sunshine28
I see an RE and was recently tested for this. It turns out I am a carrier, but my husband is not. He explained that the test is brand new and when I had the karyotyping done after my 2nd m/c the test wasn't around yet.
I still spoke with a genetic counselor about it even though my husband wasn't a carrier. I highly recommend you do the same. If not, find an obgyn that knows about it. I don't mean to alarm you, but it's something you should know about.
Thanks we have spoken to someone and researched and know what it entails, we still feel having an amnio will make no difference this is our baby and we are keeping it, but thanks for your response
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| Posted 8/29/08 9:43 AM |
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MommyofG
just the girls
Member since 5/05 9461 total posts
Name:
Janice
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Re: Spinal muscular Atrophy
You are a much stronger person than I could be with this.
I spoke to my co worker who has this and they are still waiting for the results to see if DH is a carrier apparently it takes 2 weeks and the lab is in boston.
If he is Dr. Rifkin ( not sure of spelling) and Dr. Klein both rec an amnio b/c if in fact the baby has it, there is no chance of survival according to them. The baby does not grow - the dr. told her your baby can survive to any age but will always look like a newborn the muscles do not grow and my coworker said she could not go through a pg like that knowing the outcome.
I pray pray pray for wonderful outcomes!
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| Posted 8/29/08 10:56 AM |
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Goobster
:)
Member since 5/07 27557 total posts
Name:
:)
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Re: Spinal muscular Atrophy
Posted by secretbabymaker
New update sort of I called my old obgyn and they dont routinely test for this, only on women who have multiple miscarriages, this is not part of there prenantal blood tests. So not sure why this dr chose to
So basically they only test women who have had multiple miscarriages? Does anyone know why having a miscarriage might indicate being a carrier, what's the connection?
I can't believe I have never heard of this, and since being a carrrier is supposedly so common, why aren't most of us tested.
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| Posted 8/29/08 11:07 AM |
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Re: Spinal muscular Atrophy
I have no idea, i have not had multiple miscarriages so not sure why i was even tested, what i found out is 1 in 40 are carriers and 1 in 6,000 babies are born with it, if you and your partner are a carrier you have a 25% chance that the baby will be affected, 75% chance that baby is ok, But since this is a new test they just started a few months ago, I believe there are bound to be false positives, No one in my family or my DH have ever have a child with this, what I have been told is your risk is higher if there are people in your family who have had it, so I am very optimistic call me naive but i believe the odds are in my favor, I spoke to a couple who were told after there amnio that the baby had downs, they chose to keep the baby the baby was born completely normal,
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| Posted 8/29/08 11:21 AM |
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