The system is broken.   Intellectual property rights have huge holes in them.   Everything from this situation to stuff that gets pirated in countries that don't uphold IP rights, and  lot more.

And, further, is the science around this condition (and many orphan conditions) really understood?   Are there things being overlooked that would take some of the difficulty around treatment away?   

If people can be easily bamboozled about something as straighforward as comparing prices for drugs to what others are paying in the market, people can be MUCH MORE easily bamboozled by complex science concepts -- in this case biochemistry.