Friday, February 11, 2011

NIH Detective branch solves mystery

The NY Times posted an article on Feb 2 with a spotlight on a patient with unexplained calcification in her blood vessels, primarily in her feet and hands. Effectively, this means that her arteries were turning into bones (NYT analogizes to scale in water pipes) and the result is an incredible amount of pain. Her family doctor worked with local specialists but their efforts were ineffective at relief, much less making a diagnosis.

The doctors referred her to a branch of the NIH, founded in 2008, called the Undiagnosed Diseases Program. A sort of CSI for people who may have already been to the top hospitals in the country and still do not know what is going on. Doctors at the UDP painstakingly reviewed her medical records and those of relatives, who also had similar symptoms. Using advanced genetic techniques, they were able to pinpoint a mutation which had resulted in the patient's condition, and their results are published in the New England Journal of Medicine.

I love the idea that there is place that uses a interdisciplinary approach with top experts where patients can go for top notch diagnostic and therapeutic care. Arguably, top brain trusts like Harvard (and affiliates), Mayo, Cleveland Clinic, Stanford, etc. do this already, but they also are typically organized in silos of specialties and may not be ideally arranged to provide truly interdisciplinary care.

Sometimes, patients have symptoms that cannot be explained in terms of the pathophysiology that is taught in medical school. Often these symptoms are due to a transient condition that will abate after days to weeks, but sometimes truly rare conditions develop which cannot be diagnosed with the tests available to the average physician. In these cases, it is reassuring to know that there are places to refer patients which have a track record of effectively making diagnoses, even if it means they end up diagnosing a brand new disease.

To balance my excitement with a criticism, this might be an example of why health care costs are skyrocketing. I am very happy for this patient and her family. I wish them the best and hope that their doctors can alleviate their pain and suffering. However, what costs were incurred to make this diagnosis in a handful of people? Can America afford to do this on a routine basis? Most Americans are quick to bash anyone who suggests cutting back on medical expenditures, characterizing cutbacks as "rationing". However, if this condition had occurred in someone who could not afford to travel to the NIH and receive this incredible treatment, is that not a form of rationing? For all we know, this has happened, but we have not heard about it in the NYT.

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