First published 3/4/11 on MedInnovation Blog
In 1925 W.C. Fields (1880-1946), writing in Vanity Fair, proposed this epitaph for himself, “ Here lies W.C Fields, I told you I was sick!”
As it turned out, his final epitaph in Hollywood read, “Better here than in Philadelphia.”
But I digress. I thought of W.C. Fields when reading But Doctor, You’re Wrong! (Real Story Press, 1999). Its author, Eileen Radziunas, lives in Old Saybrook, Connecticut, with her husband, Ed, an IT Specialist for United Healthcare. She is 61 years old and is incapacitated by a rare multisystem disease, Behcet’s syndrome.
Behcet’s syndrome is a disease that causes inflammation of blood vessels. It causes problems in many parts of the body. The most common symptoms are
• Ulcers in the mouth
• Ulcers of the sex organs
• Other skin lesions
• Visual difficulties
• Pain, swelling, and stiffness of the joints
More serious problems include meningitis, blood clots, inflammation of the digestive system, and blindness. In Eileen’s case, she has experienced all of these problems, including two strokes, which make it impossible for her to use the computer.
The gist of her book is this complaint: She knew something was wrong with her. She visited over 100 doctors nationwide over the course of 22 years – primary care doctors and specialists – locally and in university centers.
She ran the full gauntlet of tests – CT scans, MRIs, and batteries of lab tests. She kept insisting something was wrong, but the doctors kept telling her they could find nothing wrong , that she was dermatologically, opthalmalogically, neurologically, and rheumatologically normal.
Besides, they said, she looked and spoke too well to be sick.
But she knew differently, and finally, Yusuf Yazici, MD, of the NYU Medical Center, known nationally for identifying and treating Behcet’s Disease (one of nearly 1200 rare diseases recognized by the National Organization of Rare Diseases (NORD), located in Danbury, Connecticut), established the diagnosis based on the following.
• positive genetic marker (HLA-B51)
• frequent, recurring oral, nasal and genital ulcers (resembling canker sores)
• eye inflammation (associated with visual loss, swelling, optic nerve hemorrhaging and intense pain)
• scarring skin lesions
• digestive tract inflammation
She is currently being treated with immunosupressive drugs, steroids, and a TNF (Tumor Necrosis Factor) drug.
She told me, “ I hope something positive can come out of this diagnostic nightmare.” By writing her book, by informing her list of over 100 doctors of what was wrong and where they were wrong, and by conducting a seminar on rare diseases at a local senior center, she is doing her part in making the public aware of rare diseases, which collectively, are not all that rare.
Perhaps, by writing this blog, I can do my part too. If you are a patient and suspect you are sick with some rare disease, you can call the headquarters of the National Organization of Rare Diseases (NORD) in Danbury, Connecticut (1-203-74-0100, 1- 800-999-6073, or to one of three emails, RN@rarediseases.org, email@example.com, firstname.lastname@example.org.)
Or you may wish to visit the government website for rare diseases, NIH Office of Rare Diseases Research (ORDR) at Rarediseases.info.nih.gov.
Or, finally, you might want to look at a website called Isabelhealthcare.com, developed in 1999 by the father of his daughter, Isabel, who suffered from a rare disease The website contains diagnostic checklists of symptoms, signs, and tests for rare diseases, and is said to be a “differential diagnosis generator.”
As a physician, I look at this problem of delayed or missed diagnoses of rare disease as a product of three converging forces –
One, an over-reliance of technologies rather than listening to the patient’s story
Two, over-specialization with one-track mindsets, rather than thinking outside your specialized box
Three, a tendency to overlook the power of a simple use of Google to elicit a list of diagnosis possibilities.
As an example of the latter, do this. Type into Google these symptoms – visual loss, oral ulcers, genital ulcers, and arthritis, or combinations thereof – Behcet’s disease immediately pops to the top of the screen.
When I was in medical school, we had a saying,”When you hear the sound of hoof beats, don’t look for Zebras.” In other words, common things are common, and rare things are rare. So, when nothing fits, and you can’t think of a diagnosis, use horse sense. Consider a disease of a different stripe. Google the patient’s signs and symptoms.
Dick Reece is a retired pathologist living in Old Saybrook, CT and writing on MedInnovation Blog.