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.