World Rare Disease Day: A call for earlier diagnosis and treatment

Tracey Romero, Sports Medicine Editor, Philly.com Posted: Friday, February 27, 2015, 2:50 AM

The word rare connotes something so unique and scarce that it becomes more valuable. When it comes to rare diseases though, the small patient populations usually means the disease has to fight harder for attention and funding. On World Rare Disease Day, which will be held on Saturday, February 28 this year, patients and their families as well as scientists, physicians and researchers will try to draw more awareness to rare diseases in an effort to improve access to treatment and to drive more research to be done.

Although rarer than say heart disease or breast cancer, these diseases still have a deep impact on people both in our country and worldwide. According to the Center for Orphan Disease Research and Therapy at the University of Pennsylvania, orphan/rare diseases represent a collection of disorders that affect fewer than 200,000 individuals for any single disease type, yet there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States are afflicted by orphan diseases.

Most rare diseases are genetic and many of them present in early childhood. About 30 percent of children with rare diseases dont make their fifth birthday.

World Rare Disease Day was started in Europe by EURORDIS in 2008 and is always celebrated on the last day of February each year. Global Genes, Natural Organization for Rare Disorders (NORDIS) and other organizations and foundations participate in different events on this day and through the month of March.

Center for Orphan Disease Research and Therapy

Locally, researchers at the Perelman School of Medicine at the University of Pennsylvania have been studying rare diseases for years. In 2011 theCenter for Orphan Disease Research and Therapy was founded through a generous donation. Today they have programs of excellence on inherited forms of blindness, storage diseases, and liver metabolic disorders.

According to Dr. James Wilson, director of the center, many rare diseases start in childhood and most primary doctors and pediatricians are unaware of these diseases. Parents end up going from doctor until doctor until they finally get a diagnosis. In the future, he sees there being more newborn screenings to help identify more of these diseases.

Also a physician, Dr. Wilson got involved in studying rare diseases after working as a graduate student at the University of Michigan with little boys with Duchenne Muscular Dystrophy. I saw the desperation of the kids and families and we were just studying their gene mutations not offering treatment, he said.

With Duchenne Muscular Dystrophy, the child, usually a boy, is born with no signs or symptoms then his muscles begin to deteriorate. Eventually he loses all muscles and ability to function. He cant ambulate and is put on a ventilator. Many of these patients die as teenagers.

Excerpt from:
World Rare Disease Day: A call for earlier diagnosis and treatment