A pretty girl in her mid twenties walks into her family doctor's office.
Actually, that's not true. She does not walk into the surgery; she hobbles in - and only with the support of her concerned fiancé. The doctor tries to hide the fact that he is shocked, but he doesn't do a particularly good job of hiding the concern written all over his face. This is one sick young lady.
She starts to describe the symptoms that appeared out of the blue two days ago: the sore throat that she thought was the beginning of a cold that grew steadily worse; a strange pink rash that spread over her hands, breasts and legs; and of course the crippling pain in her knees, ankles and wrists. She describes the pain as broken glass between her bones. She is gray, exhausted and scared.
The doctor starts his initial examination with taking her temperature.
"No... that can't be right," he mutters under his breath. He pulls out his old trusted mercury thermometer and tries again: same result. A shade under 104 degrees Fahrenheit.
The doctor knows something is seriously wrong, but no illness that he knows of fits the picture exactly. He thinks it's a viral inflammation of some type... but then again, it could be a mosquito borne illness... or perhaps influenza? He aims on the safe side and sends her for a battery of blood tests including lupus, rheumatoid arthritis, malaria, Ross-River fever and a full spectrum of immune system function.
A week later, all tests come back negative except for extremely high levels of inflammation. He calls her with the results, but she's even sicker than before. Her fiancé is just packing her bags and about to take her to the hospital.
And they don't even know what is wrong with her.
The road to diagnosing Adult Onset Still's Disease is a long and winding one. For the majority of Still's Disease sufferers, this story will ring only too true. That is certainly not to say that our doctors don't know their stuff, or that they should have been able to make a diagnosis earlier. After all, Still's Disease is a rare condition - only one in every 100,000 will be diagnosed with the illness.
The other factor that significantly slows down diagnosis is the fact that Still's isn't really a disease at all: it's more of a collection of symptoms that present similarly in patients. Still's Disease does not have a test or even a concrete criteria: it is diagnosed by ruling out other illnesses and by identifying common symptoms.
The first clues to a diagnosis of Still's Disease are presented by two main symptoms that almost all Still's Disease sufferers will present with: a splotchy, salmon pink rash and high quotidian fever that appears daily and tops the thermometer out at over 103 degrees Fahrenheit. There will also likely be severe joint pain and swelling in more than one main joint, extreme non-specific myalgia throughout the major muscle groups, and loss of appetite. The disease often starts with a sore, itchy throat.
The major trouble is that by themselves, these symptoms are shared by literally dozens of other (much more common) illnesses and conditions. Because of this, the doctor will certainly send for a variety of blood tests to try and definitively label the condition. Commonly - and usually only after several trips to and from the doctor's office and the blood laboratory - the Still's Disease patient will be tested for the following blood markers:
- Rheumatoid Factor. This test identifies Rheumatoid Arthritis in most RA patients. Still's Disease will always return negative, however.
- SLE (Lupus) tests including CBC, ANA and ENA. Again, Still's Disease patients will not trigger a positive result.
- ESR - a general indicator of inflammation in the body
- CRP - another inflammatory marker that measures the evidence of a special protein secreted by the liver.
- Viral and bacterial markers
- Others, including blood count, blood cell size and ferretin levels
This can be a harrowing time for the patient. A diagnosis may take as little as a few weeks and as much as a few years depending on the ability of the patient's doctors to arrive at a diagnosis. While the patient is waiting for diagnosis there is often little relief. Over the counter anti-inflammatory drugs and analgesics often offer little respite from the swelling, inflammation and pain that almost always defines this illness.
It is only after a diagnosis of Still's Disease is arrived at can the patient be started on steroid therapy or disease modifying anti rheumatic (DMARD) medication.
As you can see, Still's Disease is vague, elusive and generally very difficult to diagnose. The good news is that once a diagnosis is made, the illness is largely manageable with the combination of medication and a well considered and thorough management plan.