New Resource Aims to Provide Information for Patients, Families and the Public
Washington, D.C., January 27, 2017—As part of its ongoing series to promote awareness and education of rare diseases, the National Organization for Rare Disorders (NORD) has published a report on Spontaneous Intracranial Hypotension (SIH). This new resource is available free online to individuals around the world.
As the primary advocacy organization in the U.S. for people who have rare diseases, NORD provides educational resources for patients, caregivers and medical professionals. Disease-specific reports are developed in collaboration with NORD’s patient member organizations and independent medical experts. The reports can be accessed through NORD’s Rare Disease Database at rarediseases.org.
“People who have rare diseases often have difficulty finding accurate and easy to understand information about their condition,” said Marsha Lanes, MS, CGC, a genetic counselor and medical editor in NORD’s Educational Initiatives Department. “The purpose of NORD’s free Rare Disease Database reports is to provide information and resources to help those who may be dealing with little-known and misunderstood medical conditions.”
The report on SIH was developed in collaboration with Connie Deline, MD, Co-founder, Spinal CSF Leak Foundation, one of NORD’s 250 member organizations, and Wouter I. Schievink, MD, Professor of Neurosurgery, Department of Neurosurgery, Cedars-Sinai Medical Center.
“Like many health advocacy organizations representing less commonly recognized disorders, we hope to see shorter delays to diagnosis and treatment and therefore reduced suffering,” said Dr. Deline. “This new report will help with improved understanding and assist newly diagnosed patients as they navigate care for an unfamiliar disorder.”
The underlying cause of SIH is a loss of cerebrospinal fluid (CSF) through a hole or tear in the spinal dura. Symptoms include headache, nausea, neck pain or stiffness, pain between shoulder blades, arm pain, dizziness, imbalance, sensitivity to light or sound, hearing changes, and changes in the ability to think clearly. Variability in presenting symptoms may contribute to delayed diagnosis and patients are often treated unsuccessfully for migraine headache, tension headache or other disorders before SIH is considered. In addition to spontaneous cases, intracranial hypotension may also occur as a result of medical procedures such as a lumbar puncture, epidural injection, over-drainage of CSF shunts, spinal or other surgery, or as a result of injury such as a motor vehicle accident.
“Misdiagnosis of spontaneous Intracranial hypotension (SIH) often leads to ineffective treatment with medications,” said Dr.Schievink. “Because symptoms caused by SIH, such as headache, hearing loss, imbalance, tremors, and even dementia are often reversible with the correct treatments, timely diagnosis is essential.”
NORD has published more than 1,200 disease-specific reports in its Rare Disease Database. The patient advocates who established NORD considered it a top priority to provide information about rare diseases for patients and their families. As a result, they began to develop the Rare Disease Database shortly after NORD was established in 1983. In the 1990s, when NORD launched a website, the database became available online. The reports are accessed by millions of visitors around the world each year.
“Our goal is to provide resources for every person with a rare disease, whether you are recently diagnosed or further along in your patient journey,” added Lanes.
To search and read other reports in NORD’s online Rare Disease Database, visit https://rarediseases.org/rare-disease-information/.