I had read this article when it first came out some years back, and it does point out that when one has one of these "orpahn" diseases/conditons, getting the proper testing/diagnosis is all too often a matter of getting to the proper specialist or facility. In the case of an NBA basketball player, no expense or avenue will be spared, as teams have huge investments in their players. For others (without unlimited income), though . . .it may come down to what, and who, the insurance will pay for . . .

There are very few places, even with all the work going on with the human genome, that have the capability to thoroughly test and evaluate a suspected hereditary neuropathy that is not a classic Charcot-Marie presentation. Most of these are tertiary health centers with big neurological reserach departments, whose names are familiar to us--Hopkins, Mayo, Cornell Weill, Mass General, Jack Miller, Washington University (St. Louis), and their affiliates. If one does not have access to these, for whatever reason . . . the chances of remaining "idiopathic" increase dramatically.

In time, as research into genetic underpinnings of conditions proceeds, and the information trickles down to the average practice (and I suspect that may take longer than the actual research), we should have fewer people "unsolved". The reserach is likely, though, to produce a whole new set of questions into the role of genetic susceptibility to certain "acquired" condtions such as CIDP or diabetes. In the end, we may all be able to consult genetic profiles that describe our relative susceptibility to various condition in great detail--and, as you can imagine what use that will put to by for-profit insurers, we'll likely need a single payer health system to get any treatment.