Genetics

I'm still trying to process this last appt with the metabolic geneticist.

Aidan was tested for another genetic disorder from a blood draw.  The spinal tap is still an option they are considering.  But after seeing the boys again, the doctor isn't as interested in that testing as before.  He restated several times again, there is a genetic disorder causing all this that we will eventually find.  He said we will only test Aidan because Jace and Damon have the same thing, so it's meaningless to test them all.  When I countered that they are different, he quickly restated they have the same thing, and added that they are just different degrees or stages and that the same genetic disorder can form subtle differences in each child.  They pointed out that Aidan has mild physical attributes that are markers of a genetic disorder... but that's just it, they are hardly noticeable even to a geneticist, and not at all to anyone else. Damon has the same attributes.  His ending point was that though not treatable, it does help knowing because specific supplements or therapies can help when we know what we are dealing with.

It is for sure now, we are no longer looking at metabolics, but just regular genetics.  Which is an even bigger haystack.

We are still having major difficulty with Aidan's muscle tone.  With the improvement from no longer vomiting, he should be gaining some muscle, but he is not.  This condition is called hypotonia and it's really starting to alarm me that he is so weak as well.  I already knew this LGS was progressive and would get worse... but to actually watch it play out in such large terms is just plain frightening.