Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases is a clinic that specializes in diagnosing rare or difficult-to-diagnose neurological conditions in both children and adults. These undiagnosed diseases may include lysosomal storage diseases and leukodystrophies as well as other genetic diseases that affect the nervous system. Dr. Raphael Schiffmann is a leader in the study and treatment of many neurological disorders, including Fabry disease and Gaucher disease. He is pleased to welcome both physician- and self-referred patients.
Misdiagnosed or undiagnosed disease is a major problem in the United States. In 2015, a report from the Institute of Medicine focused on the diagnostic errors in health care, estimating that 5 percent of US adults who seek outpatient care each year experience a diagnostic error. This percentage comes to 12 million adults per year receiving the wrong diagnosis which includes common and rare conditions both acquired and genetic. Research extending decades of autopsy examination has shown that diagnostic errors contribute to approximately 10 percent of patient deaths, and review of medical records indicate that they account for 6 to 17 percent of adverse events in hospitals.
Diagnostic errors are the leading type of paid medical malpractice claims and are almost twice as likely to have resulted in a patient's death compared to other claims. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment or providing unnecessary or harmful treatment. Without the large patient load of a primary care practice, Dr. Schiffmann is able to have longer visits with patients and has time to devote to patient-specific research.
There are many patients, children, and adults alike, with neurological diseases that are rare or difficult to diagnose. An undiagnosed disease may consist of an unusual form of a known disease or be a new unrecognized disorder. Dr. Schiffmann understands the frustration and discouragement caused by living with an undiagnosed disease or condition and applies knowledge acquired during 25 plus years of experience in the field of neurology to try and assist his patients.