Ok as a physician from first 5 min we realize its muscle disorder, so did lisa sanders early on said that its metabolic myopathy, i dont understand why she waited for more comments and for a person from italy to offer a test, the logical thing to do would be to refer her to a neuromuscular neurologist, they have an excellent department at yale, Mayo or Cleveland, they will get a specific genetic panel which will easily reveal the dx that was suggested by many of comments early on ... did they wait to get a free test? The trip to Italy wasnt free or was it? Were they waiting to get more comments?!