February 28, 2016

Rare Disease Awareness Day

The last day in February has been designated Rare Disease Awareness Day.  Since this year February has an extra last day, I have decided to write two entries acknowledging the event.
Since being diagnosed with Ehlers-Danlos last year, I have been astounded at the time it took to obtain the diagnosis, the persistent misunderstanding of the ailment in the medical community and the lack of awareness of its existence in the general population.   Fellow patients often make the same observation, a diagnosis after years of a search for answers to devastating health problems leading to the question, “What took so long?”
 I reflected on the amount of time and effort required in my own diagnoses.  (There are two disorders considered rare and perhaps more to come!)  In reviewing what was required to obtain a diagnosis and all the stumbling blocks that I encountered along the way, I came up with two antithetical lists; one for what impeded progress and the other for what set things on course towards identifying the cause of medical problems.   With proper time, effort and research every item on either list could be a treatise for rare disease awareness.  For now my time and research is limited but I will begin with this enumeration followed by commentary, some for this month and the rest for later.
 Unlike the popular adage that good news should come first, I like the problem first then solution later approach.  My list on the side of impediments begins with number one:
1. Symptoms are misinterpreted as benign features rather than hints at or actual markers for disease.
In my case, this happened twice, both with my tritanopia as well as my Ehlers-Danlos.  The main diagnostic marker for Ehlers-Danlos is marked joint flexibility and often silky or doughy skin that is hyper-elastic.    Pronounced flexibility in itself is often  a benign and often advantageous thing.  My nine-key reach was great for piano.  My flexibility was wonderful for dance, yoga, gymnastics and marshal arts.  But with Ehlers-Danlos the flexibility that creates advantage is unfortunately a sign of a connective tissue disorder.  Joints are loose because the collagen that comprises the  tendons and ligaments that hold bones in place is defective.  For reasons that may still be unclear, the illness can also result in autonomic nervous system damage, chronic severe headaches, cardiac problems, gastro-intestinal problems, and chronic fatigue.  For those who are not too fatigued to be active, activity often results in subluxations, torn tendons and dislocations.  It can become an incredibly painful disease. 
I never thought of my hyperflexibility as a symptom, even after becoming disabled.  It took a long time to connect the dots to connective tissue disease.   No doctors ever asked about joint laxity, and since I thought of it as a characteristic rather than a symptom, I never mentioned it.  The criteria for Ehlers Danlos Syndrome flexibility has traditionally been the Beighton scale, a list of nine or so point of  joint laxity in the thumb, small finger, back, elbows, and knees. It seems like a silly measurement, as many people are flexible way beyond the norm in areas outside of these markers but not always within them.  And there seems to be little accounting for age related arthritis diminishing flexibility.  Nevertheless, other than the geneticist who finally diagnosed me, there were no doctors in my care (I must have seen at least twenty or so during the five year course of this illness) who had heard of the Beighton scale or knew how to apply it.  Well, there was one doctor who thought he had tested me for hyper flexibility by coming in to my room at the hospital, wiggling the thumb of my right hand and then leaving the room.  That hardly counts.
Ironically, until the diagnosis of Ehlers Danlos seemed imminent, I had not realized the extent of my skin elasticity and joint laxity myself.  I looked at pictures of Ehlers Danlos patients and thought what looked like circus freak shore acts were anatomically impossible until I tried them myself and found that I could do all of them, and then some.  I never knew, for instance, that I could bend my thumb forward to touch my wrist until I looked at an EDS photo and saw that patients can do that.  Why would anyone want to?  But it does explain now why other patients have to have that little plastic ID bracelet cut off when they leave the hospital.  Not me.  I just dislocate my thumb and pull the bracelet up and over it.
For the past several months, every now and then I insinuated my Ehlers Danlos skin and joint features in to my art work.  The flexible thumb and tongue made their way into a small ceramic Harpy rattle.  The skin that pulls out over my eyebrows became a peculiar detail in a self portrait for the last illustration of my poetry chapbook, My Women My Monsters.  The last poem and illustration for this text became, fittingly, My Monster Myself.  It seemed the perfect euroboric way to end that story.  But the search for answers to the rare disease patients’ plaintive cry “why did it take so long?” is the beginning of my next story.

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