For the last 15 years, my wife an I have been working hard to build a non-profit organization, FRAXA Research Foundation, with the goal of helping our son and all the other kids with fragile X. FRAXA has been a runaway success in all ways, and the research we've funded has resulted in a number of major improvements in treatment for fragile X. I'm quite certain that these treatments will each help significant segments of the autism population as well.
But, here's the frustrating part: even though we've identified a number of available drugs which can treat the core deficits and correct the synaptic defects in fragile X, and even though these drugs have now been tested in the fragile X animal models, many physicians are reluctant to prescribe them. They want to see results from human fragile X clinical trials---appropriate enough, and we're doing these, but the results will take many years to make it into journals. In the meantime, they're using other drugs which are at least as toxic, and may be aggravating the basic problems our kids are facing.
Take the case of lithium: it treats nearly all the facets of fragile X that we can identify in animal models. It's a widely prescribed medication, officially approved by the FDA for the treatment of Bipolar Disorder, and it has a long history of safe use in children. Yet few psychiatrists and no pediatricians will use lithium, and fragile X patients have a very difficult time getting a prescription for it, even with recent reports of success in initial trials.
An even more compelling case is the recent finding of dramatic therapeutic effects from minocycline, a synthetic tetracycline antibiotic. Minocycline appears to be a superb treatment for fragile X, based on preclinical efficacy in animal models. Our initial experience in humans (including my son) is even more promising. Best of all, it's an incredibly benign drug which has been shown safe in millions of patients over dozens of years (and it's cheap, too!) Yet, when fragile X parents go to their doctors armed with this info, their MDs respond that this is a dangerous drug that is too risky for them to prescribe. Huh??? There's a 1 in 10,000 chance of getting (easily reversible) lupus-like side effects or benign intracranial hypertension. 1 in 10,000! But this child has a 1 in 1 chance of having fragile X, and we know that minocycline has beneficial effects (more on that later, but it's unpublished, and I don't want to steal the researcher's thunder.) So, the clinical trials are beginning, but once again, it will be years before all doubts (reasonable and otherwise) can be addressed.
So the question is, how can we get these treatments out there as quickly as possible, within the bounds of good medical care? Inevitably, the answer involves my assuming a more direct role---I have to get back to treating more people myself. That's why I'm getting back into an outpatient practice, to bring some of these research discoveries into the clinic.