Undiagnosed Disabilities: Some Preliminary Thoughts

What does it mean to be undiagnosed?  I ask this both in regard to the impact of diagnostic ambiguity and also the broader social and biomedical significance of a diagnostic void.  More specifically, I’m interested in what it means to give meaning to the lack of a diagnosis.  To not having a name, not having an access card to services or therapies, to the affective and logistical resources that ground people with disabilities and their families in broader worlds, worlds that reach beyond the parameters of their autobiographies, stretching outside the walls of their homes and the borders of memories.

My sister, Katie, was born in 1984.  She was slightly premature – but not alarmingly so – and had a seemingly mismatched collection of impairments and health conditions.  After her birth, doctors told my parents that she would not survive.  I vividly recall going to preschool as all of this unfolded and being congratulated for being a big sister.  “What’s your baby sister’s name?” asked my teachers and my classmates’ parents.  “She doesn’t have one yet,” I replied.  “The doctors aren’t sure if she will live, so my parents haven’t named her yet.”  I was four years old and did not realize the singular strangeness of this statement.

Katie did much better than expected, however, and was named in due time.  Katherine Blair Lewis.  It’s a strong Southern name and gives the appropriate nods to our forebears.  It sounds almost alarmingly British.  For the next decade or more, my parents tried to find a name for Katie’s condition, something to both describe and articulate her body to others, particularly to health care professionals and educators.  There was nothing.  We had no good, PR-worthy response to the omnipresent question of what’s wrong with her?  “Well, she has visual and auditory impairments,” I would rattle off.  “And she was born with colabomas in both eyes.  And a cleft lip.  And had a heart murmur, but that’s okay now.”  We did not know why Katie didn’t or wouldn’t speak.  My parents were steadfast in their belief that she did not have intellectual disabilities, but really there was no way to know. Looking back, it is hard to understand why they held onto that so tightly, yet it’s a theme I hear again and again from other parents today.

Katie’s childhood – and, in turn, my own – was marked by a series of false starts and inadequacies from the systems that were supposed to support her, and ours was not a singular story.  Again and again, her needs were unmet and her mysterious hodgepodge of seemingly unrelated clinical indicators were deemed nonsensical, unintelligible.  They fell outside of the diagnostic common sense.  They lacked a name and defied categorization.

There was no special group for parents of children like Katie – indeed, we were given the decisive impression from all of the physicians, specialists, and therapists that there wasn’t anyone else like Katie at all.  The only sibling disability group that my mother could find for me was for people whose brothers or sisters had autism.  I was around 10 at the time I attended, very briefly.  I remember nothing of the meeting, except my realization that these siblings had a community based on a diagnosis.  They had something.  I went home and told my mother that I wished Katie had autism.  My mother stopped making me go to the sessions.

To be undiagnosed is to remain in a liminal state, neither “normal” nor diagnostically marked.  There is no easy explanation or canned answer to the inevitable questions.  One is diagnostically stateless, nameless, protected by no resources, rules, or practices.  As the documentary Undiagnosed: Medical Refugees (currently in production) so poignantly argues, people who are undiagnosed lack a critical form of citizenship; they have no claims to statehood.  Each visit to a specialist becomes an application for diagnostic asylum, a request to be ushered in from a stateless refugee status to a more concrete transitional stage with the promise of a concrete label, group, and biomedical claim. Parents’ options for support and knowledge-sharing are decidedly limited.  They simply do not have the resources of those in more widespread, normative, and organized diagnostic worlds, such as Down syndrome or autism.  They are isolated, floating, searching.  They are stateless, nameless, and largely unprotected.

All too often, patients are simply let go by physicians who do not know how to treat them.  Sometimes symptoms are dismissed as psychosomatic or unintelligible.  In rare cases, mothers are accused of literally manufacturing their children’s conditions, foisting illness upon them as a result of Münchausen by Proxy Syndrome.  These are the horror stories of parents – typical mothers, typically white – who intentionally cultivate sickness in their children, whether through poison, withholding food, or other means.  This is a decidedly unexotic, medicalized rupture in the assumption of universal mother love.  It is easily one of the worst accusations that can be waged against a parent, particularly in the name of medicine.

Undiagnosed patients’ travails are marked with similar doubts.  They are accused routinely of embellishing, if not fabricating, their inexplicable symptoms.  Their complaints are all too often coded as whining, their conditions individualized, demarcated, and pushed to the fundamentally anti-social realm of unintelligibility.  Anecdotally, a surprising number – again, mostly women – will spend time in a psychiatric ward.  A person who is undiagnosed simply does not have a condition that is common or well-known; she has something else – something more involved, more obscure, more confusing, more unsettling on a broader medical and social level.

The undiagnosed population is a classic example of a social and medical world that is hiding in plain sight.  Tens of millions of Americans fall under this category, yet there is virtually no public awareness of this reality.  Why?

Could it be that these people call into high relief the partial nature of modern biomedical knowledge?  That this population raises collective anxieties about how and why there is such a massive group that does not make sense, diagnostically, medically, or in many ways socially?  What does it mean when parents are told – again and again – that there is no name for their child’s condition, that he is the only one?  What does it signify that multiple parents have told me their doctors just throw up their hands and half-jokingly name the mystery syndrome after their child – the Katie Syndrome, the Bobby Syndrome, the Wyatt Syndrome?

These are critical questions, not just theoretically but also in the immediate and applied sense.  I am toying with some answers, sifting through my hundreds of pages of interview notes, plus medical anthropology and genetics literature, my own memories, an acute sense of the shifting terrain of disability categories in the contemporary U.S., and a tentative hope that people are beginning to care about diagnostic communities and belonging.  Stay tuned.


One thought on “Undiagnosed Disabilities: Some Preliminary Thoughts

  1. I’m undiagnosed, though we do know some things about the mystery metabolic myopathy affecting me and my younger brother. Teaching caregivers these things really helps mitigate risks and avoid exacerbating things, for example the unusual GI tendencies that go with infancy onset metabolic disorders, and having that context so caregivers understand what is happening and know how to help and what not to do is invaluable. This ability to correctly contextualize really matters for care and quality of life. Unfortunately many nurses and doctors are unwilling to contextualize me when the diagnosis is vague “metabolic disorder unspecified” – the fear of being misunderstood is very real! I don’t really feel comfortable outside the walls of Metabolic Genetics….

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