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Diagnosis should be based on the established clinical, laboratory, and electrophysiological presentation: history of stiffness and rigidity, superimposed spasms, and continuous motor activity on EMG for classic SPS (which may be limited to trunk or limb in the variants) and the outlined symptoms related to SPS with PNS and PERM.
Cases that do not fit within these criteria should be labeled atypical or require further investigation into differential diagnoses.
Finding the right health-care provider is the first hurdle toward getting the correct diagnosis for a rare disease.
Your family practitioner is the first line of treatment. When you present with muscle cramps or spasms, they will consider dehydration, injury, strain, or overuse. If the symptoms persist, they may prescribe rounds of muscle relaxants and/or pain medication for extreme pain. They may order x-rays or MRIs to rule out serious injury. They may prescribe rest and relaxation.
They are required to try the first line of treatment because that is usually the answer. Rarely does a patient need the second line of treatment.
They may move on to testing you for endocrine dysfunction. Getting the diagnosis of an endocrine disease can take up to six months. You may then be sent onto an endocrinologist and more months of investigation ensue. If there is no endocrine imbalance, or the imbalance is repaired and the symptoms continue, you may be referred to yet another specialist.
A specialist has undertaken additional fellowships and research into a specific field of study. They are not, nor could they be, experts in every specialty and subspecialty. They examine you through the monovision lens of their specialty training. They have manuals that say if a patient presents with A, they are to do B, C, and D and so on. They have diagrams and lists that help them decide what category you might fit under based on what hurts, how much, how often, and to what degree. Their governing bodies determine what is “standard of care.” Insurance companies can follow those guidelines or ignore them and refuse to pay.
The obscure theories underlying their specialty have faded in favor of the things they see on a daily basis. Most don’t have time to read all the journal articles published or studies conducted. They stick with what they were trained to do and have done in the past. New knowledge and research are available daily, but unless they are knowledge addicts, they are not aware of them. They know about new medications mainly because pharmaceutical reps swarm doctors’ offices daily.
When you present to a specialist, they will do a cursory exam, ask a few questions, request a few tests, and examine the results. Hopefully those results offer them a blinking neon arrow that says, “Eureka you have found it!”
Otherwise, they are left to order a second tier of tests. Insurance companies are not quick to approve rare, expensive tests. You may have to fight for them or pay for them yourself.
Hopefully those results then offer the coveted neon arrow. If not, they are forced to admit your situation goes beyond the realm of their training. If the second line of treatment fails, they are forced to send you off to a subspecialist or different type of specialist for a third line of treatment. If a subspecialist isn’t available, they will try to help you the best they can.
If patients stump the third level investigator, they are often left in medical limbo.
Unfortunately, there are thousands of bizarre, extremely rare diseases represented by National Organization of Rare Diseases.
When it comes to these sad little orphan diseases, you might find a few obscure academic articles pointing to possible causes and cures. We will discuss some of them in the differential diagnoses section.
Few have professional support sites or charitable organizations in charge of funding research. Most do not have commercials or ribbon campaigns.
When the number of patients is extremely small, pharmaceutical companies and medical product manufacturers are not willing to invest research and development resources to finding treatments and cures. The disease may benefit from investigation into other diseases with a similar cause, such as autoimmunity.
Stiff-person syndrome falls under the orphan category. So, the next time you get frustrated with your family physician or neuromuscular specialist, remember they are only human and have limits. As you are shifted from the first line to the third line then left to wallow in limbo, it is easy to drown in fury and terror. You feel the urgency.
You are the one suffering. You want it to stop, right now!
Pain and suffering make you desperate. You expect the medical community to make solving your mystery a high priority, requiring unlimited resources, and endless time allocation. It isn’t a fair expectation. You cannot expect a doctor to invest his or her off hours reading medical journal after medical journal looking for answers or pieces to the puzzle. It is, however, a fair use of your time to do so.
You should never use the Internet to diagnose yourself. There are far too many variables and the average web page is devoid of in-depth information, certainly not enough to decipher the subtleties of differential diagnosis.
Once you have a diagnosis, you can use the Internet as a resource to learn everything you can about the condition. There are many legitimate medical journals offering thousands of articles online. You may not understand the complicated medical terminology or complex concepts. But, you might read a case study that sounds like your history.
Beware the source. Don’t rely on quacks selling miracle cures or questionable supplements. There are no miracle cures. If a product or service was miraculously successful, major corporations and service providers would be making money off of it.
Support groups can be useful. If you find a useful tip, make certain you do your own deep investigation into the claim.
Supplements, even vitamins, minerals, and over the counter herbal mixes can interfere with your medications and overall physical condition. Supplements are not regulated. There is no guarantee the bottle has any, much less the listed level, of ingredients. Do not take home remedies sold on the Internet or medications sold in foreign countries.
Confine your search to reputable medical reference sites such as:
You can also consult national regulatory specialty boards such as:
With some wariness, there is easy to understand information on Wikipedia. This site has the advantage of offering translations in several languages.
There is a new collaborative effort called Wikipedia Medicine.
An informed patient is an empowered patient.
Not all physicians will share your enthusiasm or be open to the information you find. You may have to try another physician, perhaps more than one, until you find the right fit for your needs. What is important is finding a physician that addresses your concerns and works with you to keep you as functional and comfortable as possible.
Getting a diagnosis leads to treatment recommendations related to your individual symptoms and needs. Every case of stiff-person syndrome is different. The course of treatment may vary as time goes on.
Patients and caregivers can be effective advocates when they have a baseline understanding of the disease process and treatment options available.
THE YELLOW BRICK ROAD TO A DIAGNOSIS