It's my second Rare Disease - the one I usually don't speak of - Sweet's Syndrome.
By far, as compared to the first, CVID, one of the rare genetic Primary Immunodeficiency disorders, it is the rarer of the two - an estimated one-in-a-million for Sweet's as compared to 1 in 25,000 to 50,000 for CVID. It did, however, play the primary role in assisting the diagnosis of another individual with an undiagnosed disorder during this past month.
For reference, my diagnosis of Sweet's (in addition to CVID) and its prevalence appear below - sorry, it's in Hebrew - only the disorder names appear in English:
The 'Diagnostic Odyssey' of another patient - I am not privy to his or her name - actually began seven months ago - approximately five months before I ordered a book from Amazon - a bestseller, in fact, which came highly recommended: "The Patient Will See You Now," the latest work by the esteemed Dr. Eric Topol: cardiologist, researcher, Director of the Scripps Translational Science Institute, Editor-in-Chief of Medscape, and Precision/Individualized-Medicine guru.
The physician who contacted me suspected it could be Sweet's Syndrome (literally a one-in-a-million longshot). She, at my behest, asked the patient to photograph the days of the outbreak. She asked me if I had photographs documenting one of my outbreaks. I did and sent them to her via my brand new smarthphone. The below image is of my leg during the initial hours of an outbreak, circa 2012. Images of further progression I will not post - they are not pleasant to look at.
Diagnosis of Sweet's Syndrome should (must!) not be delayed - in many cases it is a harbinger of malignancies. Herein, some figures are important to bear in mind. The average delay in diagnosis of any Rare Disease is 5 to 10 years. With my case of Sweet's Syndrome, diagnosis was delayed by decades. I remember my first outbreak as a college student, circa 1991 - I was not diagnosed until 2011. Cancer appeared in the intermittent period. The patient in question was diagnosed only 7 months after his/her first outbreak - in the "Rare World," nothing less than a remarkable feat. It is a testament to the power of technology and the new interconnectedness of all points medicine. Unfortunately most Rare Disease databases are not connected, one of the reasons behind the "Diagnostic Odyssey" - in Medicine's new age dots are being connected, and in many cases it will be patients and savvy doctors who help the process along - together. Dr. Topol espouses both technology and the active role of the patient in transforming medicine - it's the convergence of the two which is allowing the flipping of the status-quo on its proverbial head - subjects it is impossible to tire of hearing him speak.
Just the title of his work "The Patient Will See You Now" speaks volumes. Patients, once relegated to compliant, obedient and submissive subjects are being empowered as never before. Paternalistic medicine is being supplanted by true partnerships. Teamwork is finally becoming a new 'norm.'
Dr. Eric Topol. His book. A smartphone which I was eager to purchase after reading his work. Me a smarthphone? Prior to last month I had NEVER sent a photo or an email by phone. I did not even know how to send a text message. Were it not for the beeping of the smartphone indicating a new email, I probably would not have seen it - I rarely check my email. Yet, I vividly remember a Tweet I sent to Dr. Topol after finishing "The Patient Will See You Now":
“We are about to see a medical revolution with little mobile devices,” he writes, and in this transformation, “smartphones will play a role well beyond a passive conduit.” They will perform blood tests, medical scans, and even parts of the physical examination. Topol calls this “bottom-up medicine,” in which digitally empowered patients will truly take charge of their own health care.
Smartphone Apps are monitoring our health. They are diagnosing diseases. It's "The Dawn of the Smarthphone Doctor" in many cases. One need look no further than women in the Third World being diagnosed with cervical cancer with a new smartphone app, an app that detects jaundice in newborns, or children with rare ocular cancers who owe their diagnoses to smartphones to see how technology is transforming medicine.