Update: DH not a Carrier for Spinal Muscular Atrophy! (SMA)

4/18 update: Thank G-d, DH is NOT a carrier. I burst into tears when I got the news but didn't get to really process it as I was in between back-to-back sessions w/clients.
There had been a delay in getting results which made me even more of a wreck.
Thank you all once again for your support!


4/16 Mini Update:

First, thank you all SO so very much for all of your prayers and comforting words. They helped tremendously and were extremely comforting and touching.

I can't even express how much I appreciate it. And I'm sending out prayers to all those who are going through similar things, waiting on these scary test results.

So, not much new to tell yet, but the OB did give DH a Rx so he could go to the lab the next day (last Friday). The lab said it would take about a week to get the results. Ugh, I was sooo hoping and praying we'd get them back by yesterday. DH called and the lab said they won't be ready until Mon or Tues. So another weekend of waiting. Thinking I would get the results by yesterday was the only thing that got me through the work-week.

I am feeling calmer than last week but still just need to know at this point.
Especially since the dr said if DH is pos, there is no conclusive testing for whether the babies would actually have it? How can that be? I'm pretty sure I read that CVS tests for it. The last day you can have CVS is 13 wks, 6 days. I'll be 13w on Mon. Dr said they would send us to a genetics counselor. Which means everything would be quite a rush if we don't get the results until Tuesday. And I'm scheduled for my intralipids IV for Thurs. What a week.

The dr said "I can tell you that DH will be fine" (meaning negative). I just looked at her funny. She said it's so rare for both parents to be pos. I know she was trying to reassure me, but I kind of didn't like it b/c there's no way she could know whether DH is pos or neg.....and it does happen or the disease wouldn't exist. Anyhow, it was my first time seeing this particular dr in the practice and I didn't care for her all that much. She seemed irritated by all of my questions (about a range of issues).

On the positive front, the ultra screen results came back normal. So that is a huge relief.

I have a TON to do this weekend, so staying busy won't be a problem. I will update when I get the results back.

And once again, thank you all SOOO much for the support!!



----------------------------------------
Hi - I'm 11w3d pregnant with twins and just got a call from OB office that I tested positive as a carrier for Spinal Muscular Atrophy (SMA).

Cue rapid pulse!

I can't believe they don't test for this at the RE! If they did, I was never informed that I was positive! I'll have to double-check the records. Does anyone know if this is standard testing at REs?

We have our ultra screen appointment on Mon and they said they'll take DH's blood then - but now I'm freaking out at having to wait! I know it'll take over a week to get the results anyhow, but...

does anyone know if it's an option for DH to get a script to go to a lab for this test?

I don't know if the OB office could write him a script b/c he's technically not their patient. Plus, then I'll be afraid the lab would screw up the test.

Maybe I'll call back and see if he can just go in to their office for a blood draw tomorrow.

We were planning to make the announcement of the pregnancy to his family on Easter...which I was already a little nervous about...since our NT scan is the next day, I was just wishing that would've been done first.

But DH is so excited about announcing it at Easter, he made his Mom a "Nana" plaque out of wood.

Ugh, I'm a nervous wreck!

Help, advice, prayers much appreciated!

(We both have spinal / back problems that require regular chiropractic care...don't know if that's at all related. Sigh).

Message edited 4/18/2012 8:30:46 PM.

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Sorry I don't have any advice for this, but sending you prayers and hugs!!!

I'm not sure how it works with SMA- do you both have to be carriers for it to even be a possibility? I think I would still announce the pregnancy to your family at Easter, they might ease your concerns and offer some extra support while you wait through this very anxious time during your pregnancy!!!!!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Thanks so much!
Yes, we'd both have to be carriers but 1 in 40 people are. So it's not that rare.

Unfortunately, as far as support goes, DH's family will just minimize (after interrogating) and my mom is even much more anxious than I am!

I just don't want to announce when I'm not breathing easy about it.

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Posted by Smiles111

Thanks so much!
Yes, we'd both have to be carriers but 1 in 40 people are. So it's not that rare.

Unfortunately, as far as support goes, DH's family will just minimize (after interrogating) and my mom is even much more anxious than I am!

I just don't want to announce when I'm not breathing easy about it.

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

sorry wish I could offer words of advice that everything is ok

maybe just stay positive...announce it and be happy, enjoy the moment....I know easier said then done when this is in the back of your mind but remember there is a really good chance that it means nothing

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Thank you both!
DH is calling to see if he can get tested tomorrow.
He also said he understands if I feel too nervous to announce on Easter.

I'll see how I feel after I calm down some more.

And he reframed the odds: 39 out of 40 chance that he's not a carrier = 97.5%

Good DH!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I don't have any advice but wanted to send you many prayers!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Lots of thoughts and prayers!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

When I was pregnant with my first child I tested positive as a CF carrier - I Was and thought there was a mistake but unfortunately not...I then had to wait four days for DH to be tested a few more days for the results...it was sheer torture so I know what you are going through...I cried, prayed, cried, prayed and DH just looked at me and I said " i am not a carrier so stop stressing" He was 100% convinced he was not a carrier and you know he was right!! We were so relieved when the results came back.

Sending lots and lots and lots of prayers to you both and praying for a great outcome.

Keep us posted please

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I wish I had some insight to share, but I don't know anything about this.

Hope everything turns out okay

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I'm sorry you are going through this, and I can sympathize with you completely.

Last week, as we were on our way out the door to tell my family the news, my OB office called to let me know I was a carrier for CF. I am still completely shocked about it, and DH's blood test results haven't come in yet, so I know how anxious you are feeling.

We went ahead and told our families anyway. The way I look at it is, it has already been determined whether or not this baby will be born healthy. Knowing the results of the test today or next month is not going to change that.

Godwilling, neither of our DHs will turn out to be carriers for either of these diseases. Until we get the results, the best we can do is hope and pray and try not to worry until we know for certain that there is something to worry about.

Hang in there!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Sorry you are going through this. It's awful to have to wait for answers like that. When I saw an RE for basic testing, he did have me do genetic testing, including SMA.

I hope everything turns out ok!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

for you!!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I've been in your shoes. I found out I was carrier for Tay Sachs when I was already preggo and had to wait for DH to be tested. Its the longest, most agonizing week of your life, I know! But definitely tell your families. Hope and pray for the best and try not to stress - there is absolutely nothing you can do right now. I know, easier said than done, but really try to just enjoy. I'm sure everything will be OK. Even if he is a carrier, that doesn't mean the baby will have it......

I am also a premutation for fragile x, and have to wait for an amnio until I can be totally sure everything is fine... so I do understand everything you are feeling. Hang in there!!!!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I had my Pre- ivf testing at ECF (was considering using them) and they tested for it. Sheer did DHs so I'm not sure if they checked.

Stay positive. It's still a very slim chance your DH has it too.

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

generally there is no reason the RE would do genetic screens unless it was in your family history, or if you had multiple losses that were chromosomal and they did a full genetic screen. many people have the genetic screens done prior to TTC so that they don't have to deal with these things once pregnant. specifically there is the Jewish genetic panel since eastern European Jews have higher rates of being carriers for some horrifying genetic diseases. i had the panel done early in TTC and it came back clean for 40 or 50 genetic diseases, so my DH was never tested. my OB at the time recommended it since I am Jewish.

as far as where your DH gets the test done - since they are giving him the test in the office on Monday, im sure they could write a script if they wanted to. either way he's not their patient so i dont see why that would matter.

good luck!! im sure it will be OK!!!

Message edited 4/5/2012 11:01:54 PM.

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

At my RE they did this as part of their genetic testing. I found out I am a carrier for SMA 1 (i think) and about a week later found out I was pregnant. So, I know the feeling. Then they did DH's blood and I *believe* he is a carrier as well but he has SMA 3 (i think). Anyway, it worried me in the beginning of the pregnancy and then I honestly forgot about it. My DD is coming up on 5 months and is perfectly fine!!! Yes, the odds of being a carrier are common but it makes a difference if you carry the same strand or not. Any questions feel free to FM and I can look at my paperwork to tell you the exact info if ou would like.

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I would call your RE and see if they did any genetic testing.

My RE (North Shore Human Reproduction) did genetic testing as part of the initial bloodwork. They found that I was a carrier for SMA, but when they tested my husband he was not. I had no history of pregnancy and I'm not Jewish, so the genetic testing was part of there standard.

Good Luck!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I know exactly what you are going through. I am a carrier for SMA. When i found that out I was a wreck. As soon as I found out my husband went the next day for his bloodwork. I cried for days until we got the results. My husband is not a carrier so there is no way I could have passed it to my son. My friend does know someone who has a daughter with it, but their son does not so its only a chance if your husband has it that your child will have it. It is the same odds as being a carrier for CF. I know a family that the parents are carriers of CF and they have 3 children. Only one of them has CF. I know its very hard to stay calm and not worry, but try not to worry until you know there is something to worry about. When i told my OB I was nervous about it before i found out my husband wasnt a carrier she told me I know your fine. She said in all the years she has been delivering babies she has never delivered a child with SMA so that made me feel better. If you have any questions or just need to talk to someone please FM me! Good luck and try to calm down and not stress

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

I'm sorry you're going through this... everything ok!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!

Re: Carrier for Spinal Muscular Atrophy (SMA) - so nervous now!