Time ran a piece last year on a wonderful, loving family pulled even closer together by Fragile X syndrome. The article is interesting in part because it shows how one astute physician can notice a pattern and push genetic disease research forward by huge leaps.
There’s a lot of recent information on this disease, and the research into Fragile X is at the forefront of our understanding of autism. Carriers of the genetic difference are also subject to a host of medical issues that trouble families who don’t even know they carry the gene.