Due to the perception that only 20,000 to 50,000 people in the United States have Osteogenesis Imperfecta (OI), the National Institute of Health (NIH) has labeled OI as an Orphan Disease. This label means not enough people in the USA have this disorder to justify a significant research budget. For fiscal year 2013, the NIH did increase the funding for OI research to $9 million. This is still not enough. To have the Orphan label removed, at least 200,000 in the USA or 5% of the world’s population must have this disease. We believe this is the case.
THE SPECIAL BONES FOUNDATION BELIEVES THIS NUMBER IS INACCURATE AND OUR GOAL IS TO PROVE MORE PEOPLE IN THE USA HAVE THIS DISEASE AND PRESSURE THE NIH TO PROVIDE MORE FUNDING.
One program we feel would help us achieve our goal is to make it standard procedure for emergency rooms, urgent care centers and doctors’ offices to record individuals who have histories of multiple fractures with little trauma. These fractures could be the result of a bone disease which may have gone undetected. Once recorded, this individual would become a candidate to receive a simple test to see if this individual does in fact have some sort of bone deficiency problem.
We know of a research program in progress to develop a procedure to test patients for OI in a timely and cost efficient manner. Right now when an individual is tested, a skin graft is taken and sent to Washington for testing. In most cases it takes eight weeks to receive the results. Testing can cost over $4,000. This idea will allow quicker testing (within a week), and the cost will be in the range of an MRI. This will allow hospitals to order this test without hesitation and fear of repercussions from insurance companies.