Calling All Geneticists

Wow, who would have thunk it? Careful what you ask for –  you may get it: we seem to be raising enough collective awareness finally through regular and social media that more people are suspecting they may have Ehlers-Danlos Syndrome and seeking out a diagnosis finally, yay.

I see increasing numbers of media stories, both television and radio, as well as in newspapers. But sadly it’s coming at a time when there is a dearth (lack) of qualified medical geneticists to help diagnose those who then do suspect the condition. So we are literally seeing increasing backlogs at all of the remaining genetics offices, while some others have closed to new patients.

Technically any doctor can diagnose Ehlers-Danlos Syndrome that is willing but I still recommend trying to see a medical geneticist whenever possible to get diagnosed as I feel it’s important to rule out other heritable connective tissues disorders with which we have tons of overlapping symptoms including Marfan Syndrome, Osteogenesis Imperfecta (OI) and Stickler Syndrome.

But it’s also important to know when to suspect and therefor rule in or out any of the more dangerous and rare types of EDS. Regular US primary care physicians are poorly trained in this realm at this time, though any of them could do the job if they were willing to read up on the matter. But few are willing or able to do so (they have to know when to suspect thousands of conditions, not just EDS), and geneticists are more specialized in this kind of drilling down and gathering of family history.

Further, some of the leading specialists that end up treating us (or from whom we end up seeking treatment) require diagnosis by a medical geneticist before they will even see you. (I know of one top US neurosurgeon who treats a lot of our Chiari in particular who also has a backlog for this reason, and needs to be cloned badly.) But also, we sadly find many other doctors, primary care and otherwise won’t take our diagnoses seriously if they do not come from a medical geneticist. So we’re back to square one.

So sadly we are sort of “suffering from success” at this time. Literally. We are raising enough awareness finally that demand is increasing, while the number of available geneticists is either stable or even decreasing, at last here in Oregon in the western United States.

I confess to being mildly unsympathetic to those who have to “drive 3 hours” to see their doctors back east in the US. (Three hours gets me half way across Oregon.) Try flying 3000 miles and spending 3 days or more and often $3000 just to do the same. Or driving 6 to 12 hours.

This is common for us here in the West where we really lack for EDS aware doctors of all kinds. But I’m somehow sure we are not alone in this challenge, and know of other countries and areas that share this same challenge.

Anybody know how to encourage the next generation of doctors to go into medical genetics? (Not just research labs. I mean actually practicing medical doctors trained in genetics who then see patients.) We really need you!!

And bottom line, we need more doctors of ALL kinds to recognize EDS (all types) in its milder manifestations and forms. We will save billions (yes, with a “b”) of dollars and millions of needless hours spent chasing so many red herrings and mistreating incorrectly diagnosed patients. Truly. Join us!