Genetics Information: Family Testing

Informative meeting with Emory Genetics today.

If anyone would like to get tested for being  recessive carriers of SMA (especially in our family, since I obviously received the gene from either the McMurry or Innis line, as did Darin (they even asked us if its possible we are related!)) , they can take your blood at Emory, or they would be willing to look up more local resources for you. Just let us know and we can ask them for you.

***** For our siblings, there is a 50% chance that you are a carrier. (For Cara and Krista, that would likely apply to you too, since we essentially have all the same lineage) In the Caucasian population in general: 1 in 35 people is a recessive carrier. When two recessive carriers get together, there is a 25% chance of having a child with a deleted SMN gene, resulting in SMA like Elie.

There are multiple genetics counseling/family planning options if you do find out you are a carrier, so you can prevent this when you have children. I just wish we had known.

They are attempting to raise awareness about SMA so that more parents can make informed choices about testing. Please spread the word.

Categories: Uncategorized | 6 Comments

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6 thoughts on “Genetics Information: Family Testing

  1. Wendy

    Does this mean it is possible to prevent an occurrence of SMA? Or just that a diagnosis would be known early, during pregnancy?

    • Well, you cannot cure or treat it, but there are options for IVF where they can tell which embryos have the missing gene before implantation. Early Amniocentesis is also quite accurate. So ‘prevention’ may not be the best term depending on one’s beliefs.

      • Erin

        I didn’t realize they could tell before implantation in IVF. That’s great! I thought the only choice was amniocentesis…

  2. Erin

    Shannon and I are definitely interested. I can’t believe this is something not already included in a regular genetic screening if 1 in 35 people are carriers. If you can get me a number & contact we will come in to be tested for sure. I’m glad they’re offering this…Shannon and I had already discussed trying to get it done. Just let us know what we need to do.

  3. Kelley

    I was speaking with a friend in Florida and I guess it’s already a part of their regular screening “package” (I’m not sure where, in the process, the testing occurs). It is something that we will definitely need to keep in mind as our own children are at the point of wanting to become parents.

  4. Mandi

    Part of me wants to take the test, to know; and part of me doesn’t. I wouldn’t know what to do if it came back positive that I had the recessive gene. I believe Elie is here for a reason; whether to touch all of us and bring us close together or to change the status quo in our lives, and bring us back to the basics. She’s a miracle, and what she will teach us in her life, we could never learn in all of ours.

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