For a long time, I believed my situation was unique. I believed that falling through the Rare Disease post-diagnosis cracks, into a bureaucratic 'void,' was the exception to the rule. After being diagnosed with not one but two rare genetic disorders, I was, in both instances, simply, and unceremoniously, sent home. The parting words to me, not just from individual doctors, but by the system as a whole, were, not verbatim, but in essence, "You have your diagnosis. Have a wonderful day. We'll be in touch. Perhaps sooner. Perhaps later. Enjoy!" In speaking with many hundreds of Rare Disease patients in the ensuing years, many, in fact recently, in preparation for this article, I have come to learn that rather than being the exception to the rule, my post-diagnosis experience seems to represent the status-quo. Patients diagnosed with genetic disorders, mostly of the rare variety, are routinely sent home - unprepared, without necessary resources, without any referral to support networks, left to fend on their own. To wait for post-diagnosis follow-up appointments - appointments which can be as long as six months down the road. Sent home to await the beginning of treatment - if they are, in fact, fortunate enough to have one of vast minority of Rare Diseases which actually has a treatment. Waiting, without professional support, is the order of the day.
Counted among the "unceremoniously dismissed" are not just adults. Parents of infants and young children are among the ranks. Whatever the age, whatever the position - patient, parent, spouse, significant other, caregiver - far too many - perhaps the majority, are sent home to tackle the early stage of transition to a new and unexpected phase of life by themselves. Presented with a diagnosis, in all cases life-altering, the masses are left to absorb emotions. To contemplate the uncertainty of the future. To navigate and plan on their own. To research. To find answers. To ruminate. To cry. Oftentimes to make it through sleepless nights. At times it feels akin to jumping from a plane and trying to land without a parachute. The case of "S," a 31 year-old divorced mother illustrates the pitfalls of the post-diagnostic 'void":
One can turn to a myriad of bodies of research to see the inextricable link between chronic illness and the psyche. "Mental Disorders Linked With Chronic Diseases," which appeared in the January 13, 2015 issue of JAMA, is a nice example. Though mental disorders, per-se, are not by any means a given outcome of serious illness, it is critical for "the system" to bear in mind the fragility of the psyche when an individual is presented with a serious, potentially life-altering diagnosis. In and of itself it can be an immense load to bear. Compounded by other factors, (marital issues; divorce; financial difficulties; the list can go on and on) finding oneself, or a loved one, among the ranks of the seriously ill can shake the very foundations of ability to cope.
The dawn of the Genomics-Era is upon us. With the advent of genome-sequencing, on a grand-scale - the 100,000 Genomes Project and the proposed (2015 State of the Union) Million Genomes Project - as well as sequencing on smaller scales - masses of individuals will ostensibly be presented with new, serious diagnoses: from more common genetic disorders to those with names such as Trismus Pseudocamptodactyly Syndrome, Börjeson-Forssman-Lehman Syndrome, and Medium Chain Acyl CoA Dehydrogenase Deficiency. This, in addition to those who will continue to be diagnosed by traditional (non-genomic) means.
It is, perhaps, too harsh to classify pre-Genomics-Era, post-diagnosis care as an abject failure. Having, again, spoken with hundreds of individuals however, it can easily be classified as a period in which many opportunities to address the needs of the newly-diagnosed were missed, in many cases with results clearly detrimental to the patient and/or parents/family/loved ones.
The advent of the Genomics-Era can and should serve as a transition period. It represents an open door in which introspection and soul-searching on the part of the medical and healthcare communities as a whole should take place. It is a period in which a more holistic approach to the newly-diagnosed can be contemplated and addressed. Perhaps there is a place for newly created positions and roles. The Genomic Social Worker? The Genomic Case Manager? Perhaps drawing existing professionals into new roles?
For far too long, newly diagnosed 'Genetic' patients (and others previously mentioned) have been left, post-diagnosis, to go it alone. Tangible steps - a parachute approach - can and should be taken to eliminate this unfortunate and all-too-regular circumstance. The "Genetic Disease Experience" goes far beyond the obvious steps of testing, diagnosis, and treatment (if treatment exists). Professional 'myopathy' which fails to understand that the Rare Disease Experience is a human experience risks much.
The result of correcting this situation has the promising potential of transforming - of supplanting aloneness with patient/professional partnerships. Of replacing the gamut of stressful emotions - confusion, fear, trepidation, and the feelings of falling through the cracks and being forced, by default, to sink or swim - into one of support, strengthening of the psyche, a higher degree of control, and empowerment. It is a means to provide tools necessary for an altogether smoother landing during the initial period of illness - immediately following diagnosis - the period during which a majority of patients deem it most necessary.