Comments on: What You Need to Know About SMA Carrier Testing

By: Tiffany

Tiffany — Fri, 30 Nov 2018 18:12:59 +0000

Hello I’m so scared . I am a reduced risk carrier with 2 copies. And my husband is a carrier. Any advice?

By: Trista

Trista — Wed, 08 Apr 2015 16:59:41 +0000

I am not sure if you are still getting messages on this site. My husband and I both just found out we are both carriers of SMN1 with 2 copies. From what I am reading if both parents have 2 copies you are reduced risk. Is it still 1 out 4 children will be affected. I am currently 20 weeks.

By: admin

admin — Tue, 05 Nov 2013 12:51:19 +0000

Hi, Vanessa! I’m e-mailing you!

By: Vanessa

Vanessa — Tue, 05 Nov 2013 12:02:10 +0000

Hello

Maybe you can help me I was informed yesterday that my husband is a reduced carrier and prior to that they diagnosed me as a carrier..I cant sleep my doctor told me to go to a genetics counselor which is going to take time to get an appointment.. Im lost please let me know any advice im scared to hurt the baby with cvs,,, im 13 weeks

By: Vanessa

Vanessa — Tue, 05 Nov 2013 12:02:10 +0000

Hello

By: admin

admin — Thu, 01 Aug 2013 16:40:33 +0000

Hi, Allie! Congratulations on your baby! I opted for the CVS with both of my pregnancies after we lost Andy, because we wanted to know as early as possible if the babies were SMA-affected. There certainly is a risk of miscarriage with the test, but – for us – not knowing if they had SMA was riskier. Luckily, Lucy and Will are healthy! However, I totally understand wanting to wait for the amnio too. Whatever choice you make is the right one for your family – just trust that!

By: Allie

Allie — Thu, 01 Aug 2013 15:09:49 +0000

Hi Audra,

Thank you so much for sharing your story. I am 13 weeks pregnant and am scheduled for an amnio on 8/21/13. I opted to have the amnio over cvs to reduce the miscarriage rate and have a more accurate test result of the baby. I tested as a carrier of SMA and my husband as a reduced carrier ( 2 copies cannot confirm if they are on 1 chromosone). The genetic counselor gave us a 1 in 3 ,330 chance of having a baby with SMA and did not recommend further invasive testing. I of course have not been able to sleep since hearing this since there is no definitive answer on my husbands findings. I am curious if you have any opinion on the cvs vs the amnio? My doctor does not perform the cvs until 13-14 weeks and the amnio at 16 so there was not much of a time difference. I am so worried about the risks of harming a healthy baby but am just not comfortable with the uncertainty of the test. This is our first baby and I want to make all of the right decisions so any input you have is appreciated. Thank you again for sharing your story.

By: Jessica

Jessica — Thu, 16 May 2013 14:56:29 +0000

Hi Audra,
I am so thankful I am across this post. My husband and I lost our 2 month old littel boy, Marco, to SMA type 1 this past October. We was born what we thought prefectly healthy, but started exhibiting signs at 7 weeks. We spend 9 days in the childrens hospital, before the diagnosis came back. We had never heard of SMA and have no known family history. We have since had genetic testing, and my husband and I are both “Carriers” with the deleted gene and only two back up genes. We have discussed trying for a baby, and having the CVS test done. It is so nice to read your blog and to see you also took the same path as us. Thank you for sharing your story. God Bless!

By: In the Family | Andy's Army

In the Family | Andy's Army — Sat, 27 Apr 2013 17:48:50 +0000

[…] family underwent a linkage study to try to determine how the SMA-causing gene traveled to Andy. (You can read more about that study here.) While the study confirmed my husband’s and my carrier statuses and clarified how the gene was […]

By: Tim

Tim — Fri, 05 Oct 2012 20:31:54 +0000

Hi Audra,
Just wanted to thank you for writing this. My wife and I are in the exact same situation. We just lost our first child to SMA, he lived for four days. We took the test, and she came back as a definite carrier, but my test came back with two SMN1 genes. We are now going to have my parents tested for more information.
After reading your write up, I have a clearer understanding of exactly what is going on.