I have already seen several diseases that show remarkable likenesses to conditions that have fallen off the radar screen over the past 25 years -- perhaps because they were too easy and inexpensive to treat, notwithstanding the severity of the condition.   So, they get a makeover and "rebranding" as something "sexy" sounding.

I'd love to see the sequencing.  Who does the interpretation?  Who decides what is important?   I have trouble getting straight answers about simple blood tests sometimes, let alone something as complex as this.

As well, I have seen medical specialists squirm when asked uncomfortable questions about the biochemistry of the conditions they treat.   A funny sight it definitely is not. 

I'm not discounting the potential for genetics to reveal a whole new universe around health conditions.   When I read this case though, it doesn't ring true that it's a condition that requires a whole new treatment.   I sense some info is missing to arrive at a full diagnosis.