Intron 12

So, the test result came through. I am heterozygous for the C.[=]+[1493+2T>A] in intron 12 of the spast gene. Or, more simply, I am at risk of developing the condition.

My test report also tells me that there is an alternative nomenclature for this, C.1618+2T>A, but I dont really know what that means yet.

We discussed the test result with the genetics team, and that put various wheels in motion; for our unborn child - serious consideration of cord blood storage, and for myself - creating a plan to 'manage' the condition going fowards.

Given that we were, at this time, a couple of months from our expected delivery date, we decided to delay a referral to the neurologist until after our child was born, and we took the decision to get the cord blood stored privately.