Spotlight on Rare Diseases
Rare Disease Day is an international event devoted to spreading the word about the need to research their causes and develop therapies. On February 28, 2018, the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) hosted Einstein’s annual Rare Disease Day in the LeFrak Auditorium.
Drs. Steven Walkley and Melissa Wasserstein flank Ben, Michael, and Jessica Foglio, who were among several families that took part in the Rare Disease Day symposium and reception
The event featured a panel of families affected by rare diseases; they shared their stories of courage and perseverance in the face of these hardships. In introducing the panel, Dr. Steven Walkley, director of the IDDRC, highlighted the importance of clinicians and scientists accepting the challenge of advancing research to determine new ways of understanding and diagnosing rare diseases, from the basic science level to the clinic.
Four families provided a poignant look at the journey a patient and their family must take when identifying and treating a rare disease. The featured families were interviewed by their physicians, and scientists studying their particular disease discussed recent challenges and advances in the field. The panel provided a mix of stories, ranging from families new to rare diseases to those who have been in the struggle for a quarter century.
One family, the Foglios, spoke about how their team at Einstein, led by Melissa Wasserstein, M.D., provided them with genetic counseling and a path to diagnosis for their son Ben, who has Salla disease—an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. They are in the process of starting a foundation in honor of their son and other children affected by the disease.*
An exhibit sponsored by Sanofi Genzyme, presented on Main Street, followed the panel discussion. It consisted of a series of posters highlighting individuals who have rare diseases; each included artwork by the individual and an explanation of how he or she feels about life or copes with the disease.
“I sense a change in the field of rare diseases,” said Dr. Walkley. “The more the reality of these conditions is recognized, the more money will be invested in understanding and treating them. The more people learn about the presence of rare diseases in our nation, the more they awaken to the need to do something about them. We have come a long way.”
Rare diseases are a broad category of disorders whose common feature is infrequent incidence within the population. However, taken as a whole, rare diseases affect as many as 25 million Americans—about one in every 12 people. Often rare diseases are severe, progressive and fatal, people suffering years of declining health. Due to the rarity of the conditions, patients are often misdiagnosed, which can exacerbate the stresses already caused by severe illness.
*During 2018, Jessica and Michael Foglio established the Salla Treatment And Research Foundation (or STAR) to support Salla disease treatments, research, education, awareness, and family networks. The couple are coordinating with Dr. Walkley to plan a combined conference, “Think Tank/Family Camp,” where an international cadre of scientists will come together in New York to brainstorm about Salla disease. The event, planned for September 27 and 28, 2018, in Tarrytown, NY, will also offer Salla families from around the globe the opportunity to meet and discuss the issues that concern them.
“The conference offers a unique opportunity for families and scientists to connect,” said Dr. Wasserstein, who provides Ben Foglio’s medical care and works closely with Dr. Walkley as he investigates Salla disease in his neuroscience lab.
Posted on: Friday, August 17, 2018