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Spinal Muscular Atrophy (SMA) Positive


Forum: High Risk Pregnancy

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  #1  
July 21st, 2009, 09:22 AM
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Join Date: Jul 2009
Posts: 7
Hi all:

I apologize for the abrupt introduction, but I just got off the phone with our genetic counselor. I'm a justdaddy and have been reading this site for almost a year without a profile. My wife and I already have one child and languished through a scourge of misinformation from our hospital and doctors (and now have a healthy 11 month old). So please forgive my occasional lapses into hostility, I'm trying to be rational.

Evidently, the new stress test this year is SMA testing of the mothers. My wife tested positive for this recessive gene thus, under protest, I went in to have my blood tested and have also tested positive for the recessive gene. This gives us odds of 25% to have a child with the the disease. Now, of course, the counselor is rushing us in to get and amnio. And this is where I need a sanity check.

Full disclosure, I hate the prospect of an amnio. I think the tests are nice and all, but the odds of both of us having a recessive SMN gene are 1/1600. Incredibly rare. So rare in fact, that it's much more likely that the blood tests results are wrong and we should retest (the false positives range from 5-21%).

Has anyone else dealt with this? I am scouring the internet for more information, but have yet to tell my wife that we need to go in for genetic counseling (again). I know I'm biased, but I feel that the hospital is just a treadmill for tests and we're on a slippery slope to doctor and clinical appointments (again) for no reason.
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  #2  
July 21st, 2009, 10:32 AM
Mega Super Mommy
Join Date: Oct 2008
Location: Michigan
Posts: 4,648
I have to agree with you, I would ask for the testing to be re-done. Also, an amnio done in the second trimester drastically increases your risk of late miscarriage or a micro-preemie. It's not worth the risk for me. The other thing to consider is whether or not a positive would affect your decision to continue the pregnancy. For my husband and I we opted out of any optional testing because it wouldn't change anything for us. We would still have our child no matter what was or wasn't wrong. I hope the best for you, and congratulations on your second baby!
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  #3  
July 21st, 2009, 10:47 AM
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Join Date: Jul 2009
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Thank you for the quick reply. I did forget to mention that we just hit 20 weeks, but you seemed to pick up on that. We haven't discussed what we would do, I think that conversation will occur later today. Since I place such little value on the test results, I'm sure you know my opinion.

I'm only handwringing now because my wife was very upset about her result, now the problem is compounded and I hate to upset her.
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  #4  
July 21st, 2009, 11:02 AM
rebeccabaltimore and more's Avatar (rebeccabaltimore)
Join Date: Feb 2009
Posts: 1,732
My sister is a genetic counselor, and I recently had to terminate a much wanted pregnancy in the second trimester due to severe birth defects, so my answer is going to be biased. I learned the hard way that things that are extremely unlikely do in fact happen. I would get all the genetic counseling that is available to you. If the amnio has the ability to tell you how severely your child would be affected, I would do it. If you think you would consider terminating the pregnancy because of the SMA diagnosis, I would do it.

However, if there is no way to determine the severity and no way you would terminate, I think that the amnio is an unnecessary risk. There is a 75% that your child would be perfectly healthy, and even if your child has the condition, they may still have a happy healthy life. My husband and I made the choice we made because our son's condition was 100% fatal (it turns out he would have been stillborn if we had waited just a few more days). SMA is not 100% fatal. I honestly think that if I were in your shoes I would get further genetic counseling (since it is non-invasive) but would not get the amnio.

I'm sorry that you have to be in this position, it is a really difficult place to be. It must be really hard to try and trust doctors when you've had a negative experience with them. I think you have to go with your gut instinct. If the results of an amnio won't change your decision or give you any new information, then it really doesn't make sense to have one.
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  #5  
July 21st, 2009, 12:39 PM
Mega Super Mommy
Join Date: May 2007
Location: Upstate SC
Posts: 4,443
I had a screening come back 1:36 for Trisomy 18, I choose not to have the amnio and so far my little girl is perfect with no defects.
I lost a baby to Trisomy 18, so I knew my risk would be higher and the Dr push it and really wanted the amnio so we could terminate, trust your gut but also do research.

SMA, I knew a lady from another board who had a son ed at 3 months old with SMA, and it was very hard for them but she also said he was the light of her life. He was 27 months when he passed away, his parent didn't do s or other means to help him live other than monitors and a feeding tube.
Here's his story: Cole's Website!
just want you to see how much his parents love him, e was another girl with mild SMA who was in her 20's.
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  #6  
July 21st, 2009, 01:10 PM
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Join Date: Jul 2009
Posts: 7
@rebecca

I wish you luck in the future. A friend of mine recently had to make the same choice, I saw him a few weeks ago and could see that he was fundamentally changed. But he had a cautious optimism for their next try.

I agree, 75% chance of perfect health are good odds. I think we'll go in and talk with the counselor. She's not so useful for much since, thanks to the internet, I can find all the studies myself now. But it can't hurt to talk with her.

@nickjonmom

That was a tough site to read. Thanks, I tend to deal with stress by learning everything I can. My gut definitely tells me that our child is fine, but I'm realistic and will probably get a second set of tests. I'll speak with my wife tonight in more detail.
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  #7  
July 21st, 2009, 03:21 PM
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Join Date: Oct 2008
Location: Michigan
Posts: 4,648
Keep us posted, we are a pretty tight group on the high risk board and now that you've posted you are a part of our group too!
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  #8  
July 21st, 2009, 03:46 PM
Mega Super Mommy
Join Date: May 2007
Location: Upstate SC
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I know it would be a tough site to read but the more you know the better choices you can make. For me by reading as much as I could of T18 the more I knew what to look for during ultrasounds, and not just taking the Dr's word for it. 75% chance of your baby being healthy is very good odds.
(((HUGS)))
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  #9  
July 23rd, 2009, 01:42 PM
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So I've read a tremendous amount on SMA and this morning we headed off for our 20th week ultrasound and got an A+. After this, we went to the genetic counselor (whom I've come to loathe). Yes, she is trying to do her job, but she has called me almost daily. Then she calls my wife. Then she calls our doctor who will call us and leave a message for us to call the genetic counselor. Yes, I'm sure I could be more responsive but I prefer to know the statistics before leaping forth with the next tests. Does she really have to be *that* aggressive?

We basically sat down and firmly told her that we understand the risks and would prefer to have no more tests. She pushed and pushed and asked us to consider what we would do if there were a positive SMA result on our child and I said "We could consider this and every other possibility for every disease and disorder, but we would be torn to emotional shreds. We think that a 75% chance for a perfectly healthy child are good odds, much better than 75% chance for an unhealthy one." I can't believe I had to argue that much to get her to leave us alone. I only went in to speak with her to get copies of the results so that I may study them later.

Next stop was to our doctor to tell her that we were leaving her and changing to a midwife. The Dr. had a nice enough personality, but really added no value and was really just a hospital drone (I warned you some hostility would slip out). Our midwife is great...I had to call for about four weeks just to get in to see her and it was worth it.

So, in summation, we're forging ahead without an amnio. With luck, we've done our last ultrasound.

@nickjonmom - Don't worry, I'm about as far as one can get from taking the Dr.'s word for it. Shamelessly, I'm in the habit of photographing the results page on the ultrasound machine with my phone. It's proven to be a great sanity habit after having some terrible ultrasound techs during our last pregnancy. I've found this to be very useful as I can review the actual raw numbers at my leisure...not just the summary they give me.
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  #10  
July 23rd, 2009, 03:03 PM
rebeccabaltimore and more's Avatar (rebeccabaltimore)
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Posts: 1,732
Genetic counselors are not supposed to be that pushy. I don't like her either. Are you guys going to deliver at home or in the hospital? My SIL is having a midwife assisted homebirth next month. I think it's important that you have care providers you trust.
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  #11  
July 23rd, 2009, 03:19 PM
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She's still at it! My wife mentioned the midwife's name and the midwife just called saying she heard from the genetic counselor...

Our hospital has a birthing center one floor beneath Labor and Delivery. We delivered there (with an amazing doctor), but this time we are going with a midwife at the same place. We're not quite brave enough for a home delivery.
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  #12  
July 23rd, 2009, 04:38 PM
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And now my wife got home and said she called her at work to ask more family background questions. Unreal. I don't get her motivation. We told her to leave us alone and she's still pestering us with doubts.
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  #13  
July 23rd, 2009, 04:43 PM
Mega Super Mommy
Join Date: Oct 2008
Location: Michigan
Posts: 4,648
Hmmm, I would be at the point to not so nicely tell the genetic counselor to butt out! They are supposed to be there for support not push you in one direction or another, and it sounds like this one has an ulterior motive or something. She's certainly not instilling any confidence...
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  #14  
July 23rd, 2009, 04:48 PM
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Join Date: May 2007
Location: Upstate SC
Posts: 4,443
Report her, she shouldn't still be bugging you.

My peri was like that he finally admitted a few ultrasounds ago that Norah was perfectly healthy, took long enough. Keep us posted on how things are going.
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  #15  
July 23rd, 2009, 06:39 PM
crissy2cute's Avatar Regular
Join Date: Jun 2009
Posts: 58
Hi everyone especially Jayson!

I'm very happy to hear you opt'ed out of the AMNIO... Listening to your situation brings me back to mine which is different but still...

I went in at 23 weeks for ultrasound and cervix was opened. Okay, they admitted me made me wait till i was 24weeks and gave me steriods for baby. well after that i wanted to go home on bedrest, then the Amnotic fluid was low like 3.9... so they wanted to do the amnio to check to see if I ruptured. okay I immediately said no, I'd like to wait to see if it increases (as we just did the steriods days ago) they were not happy about it and requested to tell me why they would do amnio... i said go ahead and tell me (knowing it woulnt change my mind) she said "we'll stick a needle with dye into the bag of fluid and if anythig comes out then your rupture"...
OK??? so your going to poke a whole (create a rupture) to tell me I'm ruptured. UM' I said NO.
Slowly the fluid increased to 4.1, then 5...then to 7, 8 and I demanded to go home. THEY STILL WANTED TO DO THE AMNIO JUST TO KNOW WHY? i said NO, and told them sometimes there isnt an answer. I said the fluid is consistently increasing and me and layla are doing well, had no signs of infection or rupture besides low fluid. Besides I did let them give me the antibotics they would have given me after the AMNIO.
I just dont get why they need the unecessary tests... I had so many mothers tellling me they were glad i didn do amnio and a few others like "listen to the dr.'s they have the degress"... WELL they are giving an educated GUESS, its a guess.

Another thing, my sister had the chromosome test come back positive for something and they wanted to do an amnio before 24 weeks so she could determine if she would terminate. She said NO but still went to genetic counseling and had a perfectly healthy baby girl... There was no way she'd terminte so why bother doing the test, in time you'll know. She had someone waiting to check on her baby girl right after she delivered but she was perfect. Your decision sounds good!

I cant stand it when people just do whatever the doctor says when most the time its unecessary. My mother had six childrn, and 3 at home and never had one ultrasound! I also beat cancer at 18 with going against doctors orders cuz I KNOW MY BODY. do the research and educate yourself... as i told rebecca earlier they work for us! lol

Best wishes!!!! :O)
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