Guide to diagnosing and treating rare diseases (one affecting fewer than 200,000 Americans,).

NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.

LOS ANGELES TIMES AND PUBLISHERS WEEKLY BESTSELLER • The powerful memoir of a young doctor and former college athlete diagnosed with a rare disease who spearheaded the search for a cure—and became a champion for a new approach to medical research. “A wonderful and moving chronicle of a doctor’s relentless pursuit, this book serves both patients and physicians in demystifying the science that lies behind medicine.”—Siddhartha Mukherjee, New York Times bestselling author of The Emperor of All Maladies and The Gene David Fajgenbaum, a former Georgetown quarterback, was nicknamed the Beast in medical school, where he was also known for his unmatched mental stamina. But things changed dramatically when he began suffering from inexplicable fatigue. In a matter of weeks, his organs were failing and he was read his last rites. Doctors were baffled by his condition, which they had yet to even diagnose. Floating in and out of consciousness, Fajgenbaum prayed for a second chance, the equivalent of a dramatic play to second the game into overtime. Miraculously, Fajgenbaum survived—only to endure repeated near-death relapses from what would eventually be identified as a form of Castleman disease, an extremely deadly and rare condition that acts like a cross between cancer and an autoimmune disorder. When he relapsed while on the only drug in development and realized that the medical community was unlikely to make progress in time to save his life, Fajgenbaum turned his desperate hope for a cure into concrete action: Between hospitalizations he studied his own charts and tested his own blood samples, looking for clues that could unlock a new treatment. With the help of family, friends, and mentors, he also reached out to other Castleman disease patients and physicians, and eventually came up with an ambitious plan to crowdsource the most promising research questions and recruit world-class researchers to tackle them. Instead of waiting for the scientific stars to align, he would attempt to align them himself. More than five years later and now married to his college sweetheart, Fajgenbaum has seen his hard work pay off: A treatment he identified has induced a tentative remission and his novel approach to collaborative scientific inquiry has become a blueprint for advancing rare disease research. His incredible story demonstrates the potency of hope, and what can happen when the forces of determination, love, family, faith, and serendipity collide. Praise for Chasing My Cure “A page-turning chronicle of living, nearly dying, and discovering what it really means to be invincible in hope.”—Angela Duckworth, #1 New York Times bestselling author of Grit “[A] remarkable memoir . . . Fajgenbaum writes lucidly and movingly . . . Fajgenbaum’s stirring account of his illness will inspire readers.”—Publishers Weekly