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.

Having The Test

Well, after the thinking comes the doing, and having made the decision to have the test, the next stage is (obviously) to have the test. The test is easy, a sample of blood is taken, and then sent away for analysis. I suspect the people who do the analysis do some very clever stuff, but from my perspective a sample of blood is easy. So, the sample was taken, and sent away.

Interestingly, in one of my conversations with the genetics team in the run up to the test, the consultant said that one examination that could be done was the tickling of ones feet, and having the condition could be inferred from the direction your toes point when being ticked (i.e. generally up or down). We didnt do this (and I havent yet done this myself), so I dont know which way my toes go and which way everyone elses go. But, the idea of tickling someones feet to find out if they have HSP is an interesting one.