Just found out I'm a spinal muscular atrophy carrier..

rbescamilla412 · February 2014

My doctor's office called me today to tell me one of my tests came back with me being a carrier for spinal muscular atrophy. Now they want my husband to come in ASAP to see if he's a carrier. Hopefully, he won't be and it's recessive so then we can stop there. If he is a carrier, the baby has a 25% of getting it so they'll send me for additional testing.

I had never even heard of this! I've been doing some reading since I got the call and it seems terrible with those afflicted not living past the age of 2 in most instances. I'm trying to think logically. It's very rare so the odds my hubs is a carrier is small but I can't help freaking out. The worst part is we might not get the results back for two weeks. Then, if he is a carrier, it would take longer to get the additional testing done and get those results back.

We're still waiting for the panorama (?) screening results I also had done last week (tri-13, 18, etc). I thought next week would be incredibly happy. I imagined it would all be negative and we'd also get to find out the gender when we got those results. Now the next few weeks will be a little more like purgatory until we know one way or the other. Sigh..

Anyway, just needed to vent. Thanks for listening.

MrsLaLaBug · February 2014

FX that your DH won't be a carrier and you will have no worries!

mrsH1112 · February 2014

Hope that you guys get great news and find out hes not a carrier so you dont have to worry

mrsdanielleM2010 · February 2014

I'll keep you in my thoughts & hope he isn't a carrier.

JD83 · February 2014

FX that your DH is clear. SMA is terrible. My friend's grandson died of it a few years ago, but treatments are getting better and kids are living longer. Chances are he's not a carrier, but T&Ps anyways.

rbescamilla412 · February 2014

Thank you all for the warm wishes. I'll keep you posted.

mariaculbreth · February 2014

Keeping your family in my thoughts. Hopefully your husband is not a carrier and all of this can get put behind you.

wrightpalomo · February 2014

FX to you that your DH is not a carrier!

ashley.hamilton13 · February 2014

Thoughts and prayers. Hopefully you will be in the clear.

Ceridwen21 · February 2014

FX for you.

wcjc7707 · February 2014

Only 1 in 40 are carriers so hopefully he isn't. I have a friend whose daughter has SMA, and no lie it's pretty bad, but she is almost 4 and still making it. Prayers your DH isn't a carrier and I am so glad more places are testing for this!!

biokitty42 · February 2014

I hope your husband isn't a carrier and you can rest easy. Since it's so rare, the odds are in your favor, but I know that doesn't do much to ease your mind until you know for sure. Good luck!

beckynsean11 · February 2014

I'm so sorry you're having to deal with this. FX that your husband isn't a carrier & you can breathe easier.

kayemgi · February 2014

We are in a similar surprising position. I got the call this week that I am a carrier for cystic fibrosis. CF is not nearly as bad of an outlook as SMA though, so I'm sorry you are having to deal with that. I'm keeping my hopes up because like you said, it's very low probability that my husband is a carrier as well, and even if he is, there's still a 75% chance the baby will be fine. Good luck to you, thinking of you and hoping all goes well with your husband's testing.

x0guentherx0 · February 2014

I found out a couple days ago that I also am a carrier... its so scary but waiting for my husbands blood work results. Good luck to the both of us

[Deleted User] · February 2014

FX your hubby is not a carrier. Boo, waiting for test results is the worst part!

Tussie Mussie · February 2014

T&P while you wait to find out.

woahbabyno4 · March 2014

Really hopeful for you!

SmarieMcB84 · March 2014

Sending good thoughts and positive energy your way. I'm so sorry you both have to deal with this OP and x0guentherx0.

ErinLillian · March 2014

Sending thoughts and prayers that you get good news!!

Fergiegal · March 2014

rbescamilla412 said:

My doctor's office called me today to tell me one of my tests came back with me being a carrier for spinal muscular atrophy. Now they want my husband to come in ASAP to see if he's a carrier. Hopefully, he won't be and it's recessive so then we can stop there. If he is a carrier, the baby has a 25% of getting it so they'll send me for additional testing.

I had never even heard of this! I've been doing some reading since I got the call and it seems terrible with those afflicted not living past the age of 2 in most instances. I'm trying to think logically. It's very rare so the odds my hubs is a carrier is small but I can't help freaking out. The worst part is we might not get the results back for two weeks. Then, if he is a carrier, it would take longer to get the additional testing done and get those results back.

We're still waiting for the panorama (?) screening results I also had done last week (tri-13, 18, etc). I thought next week would be incredibly happy. I imagined it would all be negative and we'd also get to find out the gender when we got those results. Now the next few weeks will be a little more like purgatory until we know one way or the other. Sigh..

Anyway, just needed to vent. Thanks for listening.

Just wanted to touch base with you bc unfortunately, I am in the same boat as you. I found out last week I was a carrier of SMA too. No family history of it at all. It was completely unexpected news to me. I cried so much when I called my husband at work to tell him. Of course, he told me to calm down and that our baby will be fine. I've been freaking out ever since, doing tons of research. The one thing that is bothering me a ton is that my sister-in-law told me her husband, which is my husband's brother...that when she was pregnant with her first, she also received the news that she was a carrier. Of course, my brother-in-law got tested immediately and he turned out to be negative thankfully. But, supposedly that still does not rule out my husband's chance of being a carrier. I have tried to research what his chance of being positive is, even though his brother is negative...but I can't find anything. So, I have been even more frustrated. My husband went in for the blood work on Monday morning, and they told him results would be in by the end of this week, so we shall see. The waiting is terrible! I know! I am with you, and truly hope that your husband is not a carrier. Keep me posted:)

Miasim12 · March 2014

I am also freaking out I got a call last night that I am a "possible silent carrier" we have been hoping that I wasn't considering my husbands sister is also a silent carrier. Now we are both going for more testing. I understand what you're go

Miasim12 · March 2014

-Ing through I cried all night - hoping we both can put this behind us. I keep reminding myself that it's in Gods hands but it's so hard to stay calm.

rbescamilla412 · March 2014

Hopefully we all find out our husbands aren't carriers soon and then we can relax. Keep each other posted! It's easier sometimes for me to talk about it (or the pregnancy in general) with people who are going through the same thing.

Miasim12 · March 2014

Any news?? Thinking of you - I just got the call that we are both carriers - I had the cvs test Friday - I am going crazy waiting and it's only been one day

Miasim12 · March 2014

Best of luck

Miasim12 · March 2014

Best of luck

Rfalco · March 2014

I too just found out I am a carrier of it :-(. Now to wait to see if my husband has it. Thinking of you.

colleenm18 · April 2014

I found out I was a carrier and then a week later found out a was pregnant so it was pretty stressful and then one day I was like OK STOP reading about it online because that is just making things works. Thankfully my husband had blood work done and was not a carrier so nothing for us to worry about.

I was like most of you as well and had no family history of it either. Both of my sisters have children already and neither of them are carriers and when I told them they didnt even know what I was talking about. FX that everything turned out well with you and your husbands results.

rbescamilla412 · April 2014

We got our results back and DH is not a carrier! Keep us posted Miasim12.

Just found out I'm a spinal muscular atrophy carrier..

Re: Just found out I'm a spinal muscular atrophy carrier..

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