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Rare Disease Day 2014


Doctors from the Bernard & Millie Duker Children’s Hospital at Albany Medical Center joined with New York State Rare Diseases Alliance and other medical professionals recently at the Capital Region’s second annual conference to mark World Rare Disease Day at the Hilton Garden Inn Albany Medical Center.

Natasha Shur, M.D., division head of genetics and Patricia M. Hopkins, M.D., division head of pediatric hospital medicine were joined by executives and educators from pediatric-focused organizations in a wide-ranging and open discussion of the diagnostic process and case management of pediatric rare diseases.

The National Institutes of Health estimates there are nearly 7,000 known rare diseases in the world affecting nearly 300 million people. In the United States, a disease is considered rare if it affects fewer than 200,000 people.

The conference focused on the specialized case management needed when treating a rare disease and how successful management of the many layers of care can impact treatment and expense.

“Many parents facing these challenges go through a diagnostic odyssey and feel all alone,” said Dr. Shur, who is the region’s only pediatric geneticist. “It’s important for them to know there is a community and resources to support them.”

“Patients facing these diseases are treated with multiple subspecialists. They have a pediatrician at home, a pediatrician who sees them at the hospital, a therapist at home and more,” said Dr. Hopkins. “It really requires excellent communication across those groups.”

The event is the only one of its kind in New York State and was recently recognized for its efforts by both the New York State Senate and Assembly.

The forum was organized and led by Ed Fennell, president of the New York State Rare Diseases Alliance and grandfather of 7-year-old Haley and 3-year-old Emily, who both are battling rare diseases.

“The diagnosis process for rare diseases is getting more difficult for physicians,” Fennell said. “Our conference brings together doctors and professionals who are working to treat and manage these diseases with parents and care givers who have so many unanswered questions.”

The conference ran in conjunction with the Feb. 28th World Rare Disease Day.

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