| Rare Disease |
Resembles Other Disorders
Vague Initial Symptoms
Reluctance to Diagnose
Don't Meet Criteria
Huge Toll On Patient
| Skin or Renal (Kidney) Biopsies
Don't Ask, Don't Tell
Give Permission to Diagnose
They Feed All Dogs Dog Food
What to Tell People
Getting Un- and Re- Diagnosed
Patient Stories of Difficult Diagnosis
Proper diagnosis of scleroderma is often long and difficult, since it is a such a rare disease, and one which few doctors or patients are well-versed in.
In the early stages (which sometimes drags on for months or years), scleroderma may resemble many other connective tissue diseases, such as Systemic Lupus Erythematosus, Polymyositis, and Rheumatoid Arthritis, just to name a few.
Scleroderma often left undiagnosed. Research conducted by the Irish Raynaud's and Scleroderma Society found that the average time between diagnosis of Raynaud's and scleroderma is 6.7 years. In most cases, these diagnoses were made by rheumatologists, however there is an extreme shortage of consultant rheumatologists in Ireland, which can make diagnosis even more difficult. Deborah Condon. Irish Times.
Many initial symptoms may be rather vague (fatigue, achiness, cold hands, slight trouble swallowing), which often causes doctors, and sometimes even the patients, to wrongly assume that the symptoms are psychosomatic.
Prodromal illness is the term for onset of illness. In the early stages of illness, when symptoms are often rather nonspecific, it is very easy for us to become entirely focused on "achieving" a diagnosis.
After all, it is nerve-wracking not knowing for sure what is wrong with us, we think a proper diagnosis is critical to receiving the proper treatment, and it can also become a battle for self-esteem, to reassure ourselves and others that we have a "real" illness and that this is not just all in our heads.
Many doctors shy away from diagnosing scleroderma, if it can possibly be avoided, since they fear a diagnosis will make the patient uninsurable, and possibly depressed. Some also argue that since there is no treatment and no cure, it would be an adverse diagnosis, with no benefit to the patient.
Scleroderma: Health Services Utilization from Patients' Perspective. Less than half of patients were diagnosed by a rheumatologist and time to diagnosis from onset of symptoms has remained unchanged over the last 3 decades. Despite their complex, multisystemic disease, less than 50% of patients see sub-specialists or had baseline screening tests for organ involvement of their systemic sclerosis. J Rheumatol. (Also see Medical Tests)
At times, a doctor (or patient) may strongly suspect scleroderma but the patient fails to meet the stringent diagnostic criteria. The most quickly diagnosed patients are usually those who have unmistakable sclerodactyly early on, or the proper scleroderma antibodies in their blood.
Diagnosis and Management of Systemic Sclerosis: A Practical Approach. Recent advances in disease understanding, both clinically and biochemically, have led to newer classification criteria for systemic sclerosis that are more inclusive than ever before. PubMed, Drugs, 2016 Feb;76(2):203-13.
Diagnosis and Classification of Systemic Sclerosis (SSc). Patients with limited SSc (lSSc) must have Raynaud's phenomenon and SSc specific nail fold capillary changes and/or SSc specific autoantibodies. Some lSSc patients who have no cutaneous involvement but common SSc nail fold capillaroscopy abnormalities, specific antinuclear antibodies, and visceral involvement are sometimes called SSc sine scleroderma. Eric Hachulla. Clinical Reviews in Allergy and Immunology. (Also see Types of Scleroderma)
Often such diagnostic uncertainty and frustration takes a huge toll on the psychological well-being of these patients, who describe their journey to diagnosis as being by far the most difficult part of their illness.
Analyze what might be the root cause of your nondiagnosis and rectify that. If it is your doctor's reluctance to diagnose scleroderma, or perhaps inexperience with it, you might benefit from a consultation at a scleroderma treatment center. See the ISN Guide to Scleroderma Experts to find a rheumatologist with significant scleroderma training and experience.
Sometimes scleroderma is diagnosed by skin or renal (kidney) biopsies. If you want to take a more aggressive approach like this towards diagnosis, discuss the risks and benefits with your doctor.
Some patients strike a balance where they know they have scleroderma but it is never put in their medical chart, which keeps them insurable. This is possible in cases where blood tests and biopsies do not confirm the diagnosis and thus force it into the medical record.
If you need a diagnosis for your own peace of mind, and you are without insurance concerns, and you believe you meet the criteria for diagnosis yet do not have any findings which force it into your record, its possible you might "achieve" a diagnosis by telling your doctor that you know scleroderma is an adverse diagnosis, but if you have it, you are "willing to take the diagnosis" as you want it for your own peace of mind.
If your doctor still balks at this on the grounds that you would not "benefit" by the diagnosis in terms of any change in treatment (which is very often the case), you can either learn to live with it, or go to a scleroderma specialist (see above.)
Some rheumatologists feel that it isn't important to distinguish among the connective tissue diseases, since what matters most is that the symptoms are treated, not the disease. As one put it, "It does not matter if you're a pedigree (such as scleroderma) or a mutt (such as UCTD), since we feed all dogs dog food anyway."
It can also be problematical finding a support group when we do not have the proper diagnostic credentials. This is especially ironic since for most of us, the diagnosis is the worst part of the journey. Rest assured that diagnosis is long-drawn-out for the majority of autoimmune patients, so the support groups are very understanding and accommodating of this.
Pick a support group in which the disease matches most of your symptoms and go there. In the end, you will have either picked the right one, or you will become convinced you're not the same as them and thus know to look in other diagnostic directions.
7 Things People With Invisible Illnesses Think You Should Know. People with invisible illnesses often need just as much practical and emotional support as those with illnesses you can see. Scleroderma News, 01/16/2017.
What do you tell people when your diagnosis changes from week to week, or never arrives? One thing you can do is educate those close to you about prodromal illness. You'll find the better you accept the situation yourself, the better those around you will, too.
We can make jokes about it. Make up our own pet names for it. Lupusclero? Sclerolupa? Don't-know-itis? We can quit saying "I'll be happy when I am diagnosed" and get busy being happy right now.
Many of us with connective tissue disease are enrolled in the Diagnosis of the Month Club. It is very common for lupus patients, for example, to be diagnosed, undiagnosed, rediagnosed, etc. in a never-ending stream of confusion. So put your chin up and prepare yourself emotionally for a roller-coaster ride, often even after the precious diagnosis is finally garnered for the first time.
Amy B: Limited Scleroderma with CREST I am a full time pharmacist in a pediatric hospital. In February or March of this year, I began to be very intolerable of the cold…
Andi P: UCTD and Possible Scleroderma It is believed that I do have an autoimmune disease they are not sure if it is systemic or not, but I know what I live through on a daily basis…
Anna: Linear Scleroderma (Poland) I realized that it is not worthwhile to give up, even during the most difficult moments; it is necessary to fight and to believe that it will be better. If I had not believed I would not have been alive now…
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