Even though Gaucher disease is one of the better known rare diseases and diagnostic testing is available, some patients still go for 10 years or longer without getting an accurate diagnosis after symptoms first appear.<\/p>\n
The authors of a 2011 article in the American Journal of Hematology noted that \u201c\u2026almost 25% of type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms.\u201d<\/p>\n
While Gaucher disease has been studied and discussed in the literature far more than most rare diseases, and treatments are available, patients still experience complications that treatment could have corrected or reversed, as a result of diagnosis delay and misdiagnosis.<\/p>\n
For this reason, NORD has created a new Physician’s Guide to Gaucher Disease, with the help of one of the world\u2019s leading medical experts on this topic.<\/p>\n
Roscoe Brady, MD, chief of the Developmental and Metabolic Neurology Branch of the National Institute of Neurological Disorders and Stroke (NINDS), authored the new physician\u2019s guide for the same reason that he has devoted countless hours to initiatives of NORD, the National Gaucher Foundation, and other patient organizations over the years:\u00a0 The driving impulse behind his work is commitment to patients.<\/p>\n
Throughout his long career at NIH, Dr. Brady has promoted better understanding of the metabolic defects in disorders such as Gaucher disease, Niemann-Pick disease, Fabry disease and Tay-Sachs disease.\u00a0 His research has played a major role in advancing the diagnosis and treatment of rare metabolic diseases.<\/p>\n
He has been honored at the White House and in numerous other prestigious settings.\u00a0 But he is always available \u2026 typically picking up the phone on the first or second ring \u2026 when a patient organization calls with a request for help or guidance.<\/p>\n
Made possible by funding from Pfizer, the Gaucher physician\u2019s guide was published on a website NORD created last year specifically for physicians at www.nordphysicianguides.org<\/a>.\u00a0 In its first year, the website received visits from more than 32,000 physicians and other medical professionals in 133 countries.<\/p>\n Promoting the development of treatments is a primary focus of NORD\u2019s mission.\u00a0 Equally important, however, is to promote physician awareness that will lead to diagnosis.<\/p>\n With the help of its partners in the rare disease community, NORD is committed to doing that.<\/p>\n","protected":false},"excerpt":{"rendered":" Even though Gaucher disease is one of the better known rare diseases and diagnostic testing is available, some patients still go for 10 years or longer without getting an accurate … <\/p>\n