People with one of the many rare diseases and disorders know just how difficult it can be to get a diagnosis. Very few of the rare disorders have any relatively reliable or widely accepted diagnostic tests, such as specific blood chemicals or visual cues taken from radiological images. Many of these disorders have no test at all. They are mysterious, diagnosis-defying, often until it is too late to give any effective help to the patient or the patient’s family. Of course at that point they can finally be diagnosed based on post-mortem findings. T’is the very definition of Timeliness and 21st Century Efficiency!
During the process of seeking a diagnosis, individuals will often be told what the possible diagnoses are. They may be teased with a few, terrorized with others, but nothing definite is ever decided for one reason: because there is no scientific Empirical Test.
Physicians and insurance companies require Empirical Tests.
Specialists and Experts anointed before the grand, high altar of Universitatis Ipsum require Arcane Empirical Tests.
Tests and their Scientific Results are the only means which some physicians and insurers and medical facilities will accept for diagnosing any problem, especially something deemed to be Rare, and which is therefore Improbable.
Add to this the great Empirical Requirement that the results of these tests must be reproducible. Repeatedly. Ad nauseum. Often at the whim of
second string replacement consulting specialists who refuse to think that anyone else in all of the realm of Medicine is capable of a True Diagnosis.
Tests, tests, and more tests! Expensive, time-consuming, often painful, degrading, woefully inadequate, notoriously inaccurate, inappropriate tests!
That is, of course, if a person is “lucky” enough to have a disorder or disease that actually can be diagnosed [consistently, accurately, repeatedly] through a test [of which his or her physician is even vaguely aware]. If that is not the case, they simply become as invisible as the disease which clutches at them daily.
Invisibility is unacceptable. Just because physicians are cowed by the anointed Experts of Unversitatis Ipsom and fearful of utilizing the greatest diagnostic tool known to mankind, the one between their collective ears, does not mean that patients need to remain undiagnosed and invisible. It merely means that the time has come for doing one’s physician’s homework for him.
But, Gentle Lady, you might ask, How can we Mere Mortals begin to presume the we have the knowledge, the wisdom, or the skills necessary to do a physician’s homework?
One must grasp the bull by the horns and, for lack of a better term, do it one’s self. We, as mere mortals, both the afflicted and the civilian caregiver, can and must circumvent the system to enhance our chances of getting and maintaining the necessary and officially sanctioned diagnosis.
Begin with compiling a full list of symptoms. Try, if memory is willing, to list them in a close approximation of the order in which you began to experience them. As new ones present, add them and the dates on which they appeared. Try to include the length of time each of them takes to manifest, as well as how long it remains to torment you.
Do not be ashamed of any symptom you experience. No symptom is shameful nor can impune you in any way. It is no more or less than a function of biology, of the confluence of damaged, missing, extra, or misaligned particles of an acid deep within the cells of your person. Document them all, regardless of how insignificant they may appear to you, and particularly if they remain or recur as part of a cycle.
Each and every time you visit your physician, provide him with the updated list. Insist that it be added to your permanent medical record after having discussed the changes with your physician.
To guarantee that it is being placed into this file, every few months or after every so many visits, request a copy of your complete medical record be provided by the office staff. Avail yourself of a quiet corner of the waiting room, preferably one in the direct line of sight for his reception staff, and check it.
Sadly, the amount of time necessary for such perceived theatrics is not always available. Making the time can, however, ensure not only that your Permanent Record is accurate and timely, but that you are in possession of the most recent copy of that record if the need to have one should arise. One never knows when a frantic trip to the emergency room might be necessary, and having a current copy of one’s medical record is always a good idea.
If your physician has ordered the collection of your urine for 24 hours to be tested in some unknown laboratory quite far from where you live, and if these tests have been ineffective, repeatedly showing you have relatively normal urine, you may find yourself in the unenviable and dubious position of proving that it truly is quite far from normal. One can accomplish this in a few different ways.
One method, the Impoverished Man’s Porphyria Test, requires but few simple supplies: abundant bright sunlight, two very clean, sealable clear glass containers, and the fresh urine of both the individual with Porphryia and an individual who undisputedly does not suffer any manner of Porphyria. If one has a camera with tripod, set it up prior to procuring the two quantities of bodily fluids so that it can document the changes that occur. Take all care to make certain that each photograph taken during this test will show both the time and date to ensure that they will be viewed in the proper sequence.
Both individuals need to place their fresh samples, at essentially the same time, into their respective glass containers and seal them properly. This truly should be accomplished in a room with dimmed lights and pulled curtains. When filled, sealed, and marked, place the containers in a dark bag or sack until you place them in their test spots. It would do no good to compromise the fluid before it has ever seen the bright sunlight.
Place the containers close to each other in the bright light in such a way as to ensure one does not shade the other. Make sure that both of the containers can be photographed in their entireties in each repeated photograph, and quickly snap your initial photograph.
The difficult part behind you, there is nothing left but to take an additional photo periodically throughout the day, documenting the increasing difference between the two samples, until it is abundantly obvious even to the over-schooled and diplomaed that there is something profound occurring. This change may take one day, it may even require two to reach the peak of Porphyriosity. Be patient, and maintain the intervals as precisely as can be managed for optimum documentation.
A variation on the Impoverished Man Test would be to conduct the test discretely and privately within the home with the aid of full daylight flourescent lighting. One will find there are far fewer neighbors concerned about ghastly necromantic experimentation and savagely libertine activities within the household being shamelessly put on display in the garden if one is carefull about where one displays one’s urine.
If things go well, the weather holds, and the camera does its duty, your will have an unbroken series of photographs, your Second will have urine which has only imperceptibly changed, and you will have urine that has darkened and changed in hue considerably. It may have taken on the color of deeply brewed black tea, smokey port wine, well aged scotch, perhaps even boiled cider.
One other thing that you can do in assisting with your diagnosis is to conduct a bit of investigation into your familial ties with Porphyria. If there is a sibling or a parent, even cousins or great-aunt who has a diagnosis or who passed from causes commonly known to be tied to porphyria, gather that information into a Medical Family Tree. Showing an irrefutable link to others with known and documented porphyria adds one more layer to the foundation of your own porphyria, something which cannot be easily brushed aside by the Experts Universitatis Ipsum.
Another tack that you, gentle person, could employ in guiding your physician to a solid and at least temporarily substantial Porphyria diagnosis would be to conduct your own study of your personal genetics.
How, say you, can one even begin to attempt such a difficult and rigorous task?
Good Reader, let this lift your spirits and raise your esteem: The average median IQ of general practice and family practice physicians is a respectable but merely “above average” 130 points. Many of you, by some quirk of your genetics, average at that number or above. If you find your IQ to be at that magical 130 level as well, then fully half of these Highly Respected and Scholarly Individuals does not have the intellectual potential that you have.
If they can do this, then with the proper materials and instructions, you can do it as well. To begin this journey, contact one of the few DNA labs which will map the pattern of your very existence for you at reasonable cost. One such example is 23andMe.
Although, sadly, they cannot pull each and every marker and mutation for Porphyria, however common or arcane, and display them for you in a vast tapestry of sequenced genes, they can direct you along the proper path for reading and finding the information you need to firmly press your physician from a position of contrariness to one of cooperation in your diagnosis.