I haven't blogged in a long time. I'm waiting for lab work
to see if he has the gene, but we went to a new dr. (Abigail Collins) at Children's Hospital last week who
is a movement disorder neurologist (instead of his normal epilepsy neurology
dr.) because he and I both thought Charles probably doesn't have a typical
epilepsy diagnosis. Anyway, long story short, he was diagnosed in the
exam as potentially having PKD (paroxysmal kinesigenic dyskinesia). Just
this past year, there became a link for kids with the PRRT2 gene mutation with
PKD...but not having the gene, doesn't mean it's not PKD.
Anyway, it's a very interesting fit...it better describes
his experiences. He would NOT be medicated for it at this point, because his
leg tremors aren't often enough. YAY! you can google it, but the article the
dr. printed for us is the official case study (i only have in print form) and
you have to have a dr/membership to download it. anyway, i will share more
later, but wanted you to have an update (still no FORMAL answer, but this is a
possibility).
Paroxysmal kinesigenic
dyskinesia (PKD) is a rare disorder characterized by short episodes of
involuntary movement attacks triggered by sudden voluntary movements.
