SMA Carrier — The Bump
1st Trimester

SMA Carrier

My doctor just called and told me I am a carrier of SMA. I absolutely freaked out. DH is on his way over there now to get tested. The results should be in early next week. I wish is didn't take so long.

Anyone else have this happen?? what was the outcome? Should I be a worried as I am?

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Re: SMA Carrier

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  • I have no advice - just wanted to say that I will pray for you.

    Sorry you are going through this.

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  • my husband is a carrier and I am not. I was very worried when I got tested too but my husband just kept telling me not to worry because the results would probably be negative and they were!  hope for the best!  also, even if both parents are carriers, it does not necessarily mean you will have a child with SMA.  My husband's parents are both carriers and they had 5 children without SMA before having 1 child with SMA (and she will be 21 this August!  She's in her sophomore year of college!).

     wishing for the best outcome for you!  I know how tough it is to wait...

    DS 02.08.2012 DD 03.06.2012 Expecting #3! BabyFruit Ticker
  • Thank you SO much for your encouraging words. Thats does make me feel much better.
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  • I am so sorry to hear that. I will pray your husband is not a carrier. Look at this as a good thing. In the slim chance your hubby is a carrier too, you can prepare yourself. Only 1 in 40 people are carriers. Also, even if he is a carrier, there is ONLY an one in four chance your child will have SMA. Even if your husband gets tested and is negative, your children will need to be screened too. Usually not till 16 yo.

    Spinal Muscular Atrophy is a genetic disorder where the brain fires signals to the muscles but the protiens are missing to actually recieve the signal. So, the muscles don't move. There are different types and it just effects the degree to how much muscle movement the child will have. There is no mental deficits.

    I am so glad that this is part of prenatal screenings. My genetic counselor told me that it just recently was added as a standard part of screenings.

    My husband is a carrier. His nephew has SMA and has survived to the age of 6 past all odds! He was diagnosed at 6 months, because he raised red flags when he was not rolling over and meeting his milestones. His family was told he would not live to over a year of age. He is the fourth child in the family and the only one with the disorder. His parents did not know they were carriers. Jack, our nephew, is an amazingly intelligent, funny little boy. He is happy and surronded by people that love him. He just can't move his legs or torso. He has weak movements in his arms and neck. His mom has a website,

    www.jacklindaman.com

    You can also find alot of other sites out there, but some are very very sad. Alot of them are worse case scenarios.

    My prayers are with you and your family. Please let us know the outcome.

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