A Rare Day at Einstein

February 29 only occurs every four years. In recognition of this rare day, a trio of Einstein centers — the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC), the University Center for Excellence in Developmental Disabilities, and the Children’s Evaluation and Rehabilitation Center (CERC) of — co-sponsored a special concert, "Rare People and Rare Talents on a Rare Day."

In offering opening remarks, Dr. Steven Walkley, director of the IDDRC noted, "Rare Disease Day started four years ago on this date. Awareness has now reached a tipping point where people are becoming more familiar with this concept of ‘rare disease’– which by definition is any disease affecting fewer than 200,000 people."

He continued, "There are 6,000 to 7,000 rare diseases in this country, affecting about 25 million Americans in total. When we think about it in these terms, rare disease is not really very rare at all. And very few of these diseases – only about 250 – have approved therapies."

Dr. Robert Marion, director of CERC, also welcomed the crowd, adding, "Today’s celebration is really about people. We’re going to hear four very special people, whom I’ve had the pleasure of knowing and caring for in my practice at Montefiore and at CERC."

He then introduced the performers who also are current patients of his. They included:

Zachary Cantor, a singer with Williams syndrome, a developmental disorder characterized by mild to moderate intellectual disability or learning problems, and cardiovascular problems;
Singer Ashley Appell and saxophonist Mervin Hernandez, two patients with Hermansky-Pudlak syndrome, which is characterized by blood clotting problems and a type of albinism of the skin, hair, and eyes that also affects vision; and
Alena Galan, a singer with Mucopolysaccharidosis Type VI, which causes enlargement and inflammation of many tissues and organs, with skeletal abnormalities also common. In severe cases, life expectancy is markedly reduced without treatment, but in mild cases patients usually survive into adulthood.

The festivities, which included a performance by a troupe of young girls performing Irish step dancing, were a great success. And the event achieved its dual goal of underscoring the difference that research can make in the lives of patients suffering from these conditions and of inspiring people with or without disabilities "to do bigger things by keeping faith, courage, hope, and by never giving up."