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Living With Lysosomal Disease

In a break with the past, Einstein’s 2015 celebration of Rare Disease Day focused not on the idea of rare disease generally but instead highlighted the lives of individuals living with a distinct group of 60 syndromes known as lysosomal storage disorders (LSDs). This focus was chosen as a way of celebrating this year as the 50th anniversary of the discovery of the cause of these diseases—by Dr. H. G. Hers at the University of Louvain in Belgium, and as a means of spotlighting contributions that scientists and doctors at Einstein’s Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) have made with regard to LSDs, and in particular with regard to Niemann-Pick type C and Tay-Sachs.

On March 2, in the Michael F. Price Center for Genetic and Translational Medicine/Harold and Muriel Block Research Pavilion, the RFK IDDRC Rare Disease Day program opened with brief introductory remarks by center director Steven U. Walkley, D.V.M., Ph.D., that were followed by two compelling panel discussions, the first of which was made up of individuals living with a range of LSDs, from Gaucher to Maroteaux-Lamy (MPS VI). During this discussion, Robert W. Marion, M.D. ’79, former director of the genetics division in pediatrics and of the Children’s Evaluation and Rehabilitation Center (CERC), along with Frederick J. Kaskel, M.D., Ph.D., division chief of pediatric nephrology and vice chair for affiliate and network relations in pediatrics, moderated by asking each individual to share her unique clinical story with the audience. The panelists were Suzanne Krupskas (representing Gaucher disease), Alena Galan (MPS VI), Gail Graf (Fabry disease) and Laura Krummenacker (cystinosis). The second panel was made up of parents— Jill Wood (parent of MPS IIIC child Jonah Weishaar, www.jonahsjust and Phil and Andrea Marella (parents of Niemann-Pick type C child, who have, as a result of their experiences, become advocates dedicated to improving the lives of not only their children but of other patients and their families by garnering political and financial support.

The panel discussions were followed by a reception in the Leo Forchheimer Medical Science Building featuring a singing performance by 17-year-old Ms. Galan, and an art and photography exhibition consisting of selections from Levi Gershkowitz’ “Living in the Light”TM project, a photographic compilation of individuals with LSDs, and selections from Genzyme Corporation’s “Expressions of Hope,” a collection of artworks by members of the LSD community.

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