Declan update

Oct 26, 2012
Declan update:
Got a call from the Genetic counselor. We had a deletion test done on Declan for SMA, and it came back Negative! This is what she said:
This rules out SMA caused by problems with the SMN1 gene the most common cause of SMA. Since Declan has symptoms of SMA this test does not mean he doesn’t have a kind of SMA, just not the most common type. This does mean that medications tar

geted to SMN1 would most likely not benefit Declan, but continuing with the same respiratory, dietary and orthopedic management will still benefit him. I know that this result puts you back into the unknown as far as a diagnosis, and while on the surface it seems that a negative test result would be a good thing, sometimes not having an answer is much harder. We are looking into a couple of different new genes on a research basis for Declan as well as continuing to look at the SMARD gene.

So we are back at square one with no answers.. which is good? So on we go into the unknown. Declan is just too rare, but we love him anyway. :)

jail bird baby.