Lou Gehrig's Disease - Motor Neuron Disease - Amyotrophic Lateral Sclerosis
Thought it had been cured by now? Still no known cause. Still no cure. Still quickly fatal. Still outrageous.

Monday, October 5, 2009

Can We Learn From Another "A" Disease?

There are a number of articles in today's news about the prevalence of autism being higher than was ever thought.

Two new government studies suggest autism spectrum disorders are becoming more common in children in the USA. However, researchers say, it is not clear how much of the increase is a result of more frequent and earlier diagnoses and how much is a result of a real rise in the conditions...

Ten years ago I watched a parent with a very young child with suspicious symptoms being dismissed by multiple physicians as a worry-wart. Only with a mother's relentless and heroic pursuit of a correct diagnosis was the autism case recognized and dealt with early. Autism was perceived as an unlikely and "rare" condition ten years ago. There are no biomarkers, so an easy slam-dunk diagnosis with a lab test is not possible. It takes expertise and judgement and elimination of other conditions to reach the diagnosis. It also takes a willingness on the part of a physician to recognize it. Today pediatricians and primary care physicians realize that one in ten eight-year-olds probably has an autism spectrum disorder. It is recognized and dealt with early because physicians know what to look for and know that early intervention is critical. To add to the awareness, those overlooked infants from ten years ago are in school today and their challenges are obvious not only to their parents but also to our school systems. What a difference ten years have made.

Does any of this sound familiar? ALS is perceived as a "rare" disease. Doctors are programmed that they may see at most one case in a career. ALS also has no biomarkers for that easy slam-dunk diagnosis. It takes some judgement to recognize it, particularly in early stages. It takes a willingness to see the clues and follow them to the correct diagnosis.

To add to the medical blinders when it comes to ALS, physicians know that they can't cure it. Is Dr. Freud at work when a physician misses an ALS diagnosis? Is something in the back of the doctor's mind saying "no harm no foul... I couldn't have done anything to cure it... the patient was going to die anyway?"

Piling on to healthcare's looking for everything but ALS in a patient is the fact that the "rare" designation carries some benefits related to orphan drug status, etc. That word rare is a catch-22. The technical designation "rare" has some regulatory benefits. The word rare holds back the societal recognition of the ALS problem.

If we had some large-scale studies and a working registry with aggressive efforts to identify cases of ALS, would some startling new prevalence numbers suddenly cause physicians to pay attention to that little old lady will slurred speech and a weak neck? With ALS, if that particular case isn't diagnosed within a few months, the patient will be dead without any reference to ALS in her medical records or on her death certificate.

Perhaps ALS is not so "rare." Perhaps if a couple of studies break that myth that we'll see the level of recognition of the disease and early diagnosis that we see in autism today.

When you pay attention, ALS isn't so rare. We have failed to get society to pay attention.

Autism numbers grow and healthcare professionals and parents who are now paying attention have a lot to do with that. The more they see, the more they see.

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