Pompe Alliance Patient/Caregiver
Speaker Education Program
Our mission at Pompe Alliance is to provider supportive services, education and information to patients, caregivers, medical professionals and community stakeholders.
A rare disease is defined as any disease, disorder, illness or condition affecting fewer than 200,000 people in the United States (www.NORD.org). According to the National Organization for Rare Disorders there are 7,000 rare diseases and between 25 and 30 million Americans suffer from a rare disease that’s 1 in 10 Americans and only 5% of rare diseases have FDA approved treatments. Finding a rare disease diagnosis can be difficult, emotional and daunting, according to Global Genes it takes rare disease patients an average of 4.8 years to receive an accurate diagnosis. However for many rare disease patients the time frame for receiving an accurate diagnosis is much longer sometimes ranging from 10 to 20 years, and once patients receive a diagnosis the process of finding a doctor and other medical professionals who are knowledgeable of their disease can be extremely difficult. According to The National Institute of Health studying the role of a gene in a rare or undiagnosed disease can help our understanding of related common diseases. Genes and the proteins that they encode interact and affect one another. Discovering the gene involved in a rare disease and its function can shine light on the function of other gene products that interact with it. In this way, research on rare disease genes can also impact our understanding of other diseases, including common ones.
While the statistics and information listed above are important, many rare disease patients often have more serious clinical presentations and fewer treatment options available. Finding a doctor and other medical professionals who are knowledgeable of a particular rare disease can be difficult at best. Many rare disease patients travel great distances to find specialists and experts. To that end we are happy to present the Pompe Alliance Patient/Caregiver Speaker Education Program.