Sep. 12, 2017
Posted by Lisa Sencen
Washington, D.C., September 15, 2017—As part of its ongoing series to promote awareness and education regarding rare diseases, the National Organization for Rare Disorders (NORD) has published a report on Shprintzen Goldberg Syndrome (SGS). 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 SGS was developed in collaboration with Joseph Farris, a graduate student at the University of Notre Dame, Barb Calhoun, MSN, RN, NP, Nurse Practitioner and Outreach Coordinator, Boler-Parseghian Center for Rare and Neglected Diseases at the University of Notre Dame; and Hal Dietz, MD, Victor A. McKusick Professor of Medicine and Genetics, Institute of Genetic Medicine, Investigator, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine.
“SGS is extremely difficult to diagnose given the similarities in presentation to other connective tissue disorders, such as Marfan syndrome and Loeys-Dietz,” said Calhoun. “The [new report] provides needed details for both doctors and families, enabling them to differentiate these disorders from each other. This will positively impact the time to diagnosis, allowing for earlier intervention in the treatment of life-threatening complications associated with SGS.”
SGS is an extremely rare connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular deformities. SGS is inherited as an autosomal dominant trait and thought to be caused by mutations of the SKI gene, important in cell growth and development. Currently, there are fewer than 50 patients described in the medical literature.
During the development of the SGS report, Farris and Calhoun consulted with the mother of an affected child with SGS, Melissa Kern who said, “It was so delightful to be able to read a report with accurate information that was easy to understand! With SGS being so rare, there is such little information out there. I am so excited for those newly diagnosed with SGS to have this wonderful resource.”
To prepare this report, Farris extensively researched current periodicals for up-to-date disease information. Calhoun said, “This project highlights the success in utilizing graduate students in the development of rare disease summaries for NORD’s extensive database.”
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. We are thankful to Joseph Farris, Barb Calhoun, Melissa Ken, and Dr. Dietz for their contributions to this report.”
About the National Organization for Rare Disorders (NORD)®
The National Organization for Rare Disorders (NORD)® is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most. NORD represents more than 260 disease-specific member organizations and their communities and collaborates with many other organizations in specific causes of importance to the rare disease patient community.