Diagnosis in the field of rare disease is often a problem of information. There are over seven thousand distinct rare diseases, most of which doctors never see. They can affect all parts of the body, manifest at any age, come on suddenly, or slowly present over decades. Research exists for many, but not all, treatments are often still experimental, and what information is published can be spread out and difficult to find. It’s a monumental task for any doctor, even a specialist, to be familiar with all the conditions they may see. Patient’s may visit a dozen doctors and get a dozen equally plausible diagnoses long before they see improvement – let alone a diagnosis. This enormity of possibilities, and the risks involved in mistreatment, underlie the profound challenge faced by physicians when they see a patient that presents symptoms of a rare disease.
Acromegaly is one of those rare conditions that has historically had far too much of its information lost to the noise of uncollected, piecemeal publications that fade too quickly from public attention. It’s also a disease with unfortunately widespread stereotypes. It can present with very visible symptoms, enlarged feet and hands and distinct changes to the face are classic and famous, but they don’t happen to everyone. The truth is, anyone can have the illness, and it can be hard to spot. It takes a physician with true familiarity with the disease to less obvious cases. Unfortunately, JD Faccinetti was slow to meet someone familiar with Acromegaly. Going undiagnosed, struggling with not knowing what’s wrong is all too common for people with a rare disease. For JD though, that process went on unusually long – almost 25 years. The human impact of Acromegaly can make every day without treatment very uncomfortable. Headaches, trouble focusing, and some damage to internal organs mark the illness as particularly harmful over time, if left untreated.
JD didn’t stay that way forever, though. In 2010 JD met Dr. Lewis Blevins, who recognized his condition as he walked in the door. Years of not knowing came to an end in a moment. Dr. Blevins had the information to diagnose JD’s rare disease, but in that, he was a rarity. JD and Dr. Blevins became fast friends as JD went through treatment. Over coffee one day, the pair got around to discussing how they might improve the general availability of information around Acromegaly and other pituitary diseases. They weren’t mere laymen about the subject, Dr. Blevins, who is the Medical Director of The Center for Pituitary Disorders at UCSF and Professor of Clinical Medicine and Neurological Surgery, and widely recognized as one of the finest neuro-endocrinologists in the works, was obviously well-versed in the pituitary literature, and JD had years of experience in national and international marketing. That meeting of the minds was the beginning of an enduring partnership. Together they started Pituitary World News, a web-based news magazine that works to synthesize and report the huge amount of uncollected data that makes up most the literature in pituitary diseases. The site collects information, some dense and deeply informative, some more eye-catching and “fun” to read, and makes it available to patients and doctors who might have never found it otherwise.
JD put much of his work in marketing to the side, focusing on this new creation. The site became popular quickly. He and Dr. Blevins had pinpointed a real need in the pituitary disease community, a place to learn and connect to all the information that’s been published. Even old, archived pages can still garner hundreds of thousands of clicks and reach many more. Partnering now with many advocacy groups, the site keeps its information up-to-date and relevant for the entire disease community. The impact on that community is real. They receive stories regularly from people who found the site and recognized themselves in the symptoms. As much as physicians have a place to go for more information on the many pituitary illnesses, the site also provides a place for potential patients to go where they can reach accurate information and potentially inform an early diagnoses.
Projects like Pituitary World News and the work JD does, are invaluable to the rare disease community. Advocacy is always important in the space, and the site goes a long way to further that. Information is key for patients and doctors to catch illnesses and treat them early. Work to raise the profile of rare diseases can save lives, increase funding for treatments, and build communities of patients that can provide mutual support. As a patient himself, JD is giving back to the community above and beyond. Everyone here at Engage Health are excited to recognize his hard work in the rare disease space, and proud to honor him as a Rare Disease Difference Maker™!