Genomics & the Psychology of the Rare Disease 'Diagnostic Odyssey' -

Genomics & the Psychology of the Rare Disease 'Diagnostic Odyssey' -

Genomics & the Psychology of the Rare Disease 'Diagnostic Odyssey'

12/16/2014

 

I wept openly in the offices of two physicians - the occasions being when each of my Rare Disease diagnoses were presented to me. The first occasion was in 2006 when told I had CVID, a 1 in 25-50,000 genetic disorder of the immune-system, the second, when diagnosed with the even more rare Sweet's Syndrome in 2011, making me only the second case in medical literature of having the two disorders at the same time.

But don't, as the physicians did, mistake the tears which rolled down my cheeks as being related to shock or anger. As I explained to each of the white-coated experts who attempted to console me - my tears were of joy and relief!

An explanation...  

__________________________

Years of uncertainty, anxiety, apprehension, confusion and fear typically reside in the psyche of the patient during that which we in the Rare Disease world refer to as the "Diagnostic Odyssey." Due to a combination of factors - the inherent rarity of Rare Diseases, unfamiliarity with the approximately 7,000 conditions on the part of physicians, and more - diagnosis of a Rare Disease, from onset of symptoms to the 'epiphany moment' when presented with the findings, averages 5 to 8 years. In the case of CVID, the average is 12 to 15 years. In my case, a retrospective analysis of my medical records showed I probably had undiagnosed CVID and Sweet's for more than twenty years. Before a series of alert experts sent me for the necessary tests to confirm the conditions, other doctors, as I like to say "never missed an opportunity to miss an opportunity."

Back to the uncertainty, fear and anxiety of which I spoke above - emotions inherent in being in the limbo, the "wasteland" so to speak, of residing in the range encompassing misdiagnosed to undiagnosed. It is part of knowing that something is terribly wrong. Your symptoms, or those of your child, not being taken seriously. Mysterious and unexplained ailments being brushed under the carpet, ignored by far-too-many in the medical profession. In one of my cases, CVID, it was repeated infections of every system in my body, countless hospitalizations, and being on antibiotics for an average of 12-15 out of 52 weeks per-year for well over a decade. Far-too-many doctors failed to notice red flags and connect the dots. Family and friends, once concerned and supportive, began to dismiss me as "the world's biggest hypochondriac" and openly suggested my symptoms were in my head. It is typical of many in the Rare Disease community before receiving their formal diagnosis - and yes, the reason why the moment of diagnosis can be such an epiphany moment - one filled with - as I alluded to earlier - joy and relief.  

__________________________

Genomics will be a "game-changer." The power of a sequenced genome has the potential to reveal genetic mutations and resultant diseases once hidden from plain view. This next-gen view of an individuals entire genetic makeup has an unprecedented ability to connect dots and provide diagnoses. Doctors are human, fallible, limited to short-duration appointments, and in many cases overworked. A genome sequencer is none of the above.

A vast catalog of dots already exists, and as more and more previously unknown disease biomarkers are discovered, genomic power will increase exponentially.

Much is being made of the physical aspects of Genomics - diagnoses of diseases in a proverbial vacuum. Attention should be paid, however, to the psychological and emotional contributions as well.

The burden which those who are undiagnosed and misdiagnosed carry is a huge one to bear. Genomics promises little in the way of outright cures at the current time, but what it does have is the power to lift a weighty burden and provide those who are mysteriously ill with one of the most valuable and soul-soothing gifts they can ever be given...

...definitive answers.