I was diagnosed with AMN just over 12 months ago after experiencing symptoms for 10-15 years. After the diagnostic VLCFA blood test, my DNA was sent for analysis and there was a mistake of ABCD1. My lack of family history of AMN/ALD has always struck me as odd considering I have a brother, my mum has 2 brothers and her mum had brothers as well, no-one has any AMN-like symptoms.
Fast forward 12 months and my mother has now had her DNA tested and this shows that she does not have any mistake on ABCD1. Thus the genetic mistake occurred between her and me. I'd imagine this is an astronomically low probability, but there you go, all genetic defects have to start somewhere. It's just me and my daughter... and hopefully by the time she has children (if), medical science will be at the point where defects in ABCD1 can be screened-out.
Does anyone else on here have a similar story?