It took 19 years for doctors to finally diagnose me with a rare immune deficiency disease.
The total number of undiagnosed patients is unknown but considered to be vast. To provide some perspective on this epidemic, consider that it takes an average of 7.6 years in the United States to uncover a rare disease diagnosis. Worldwide there are an estimated 350 million people living with a rare disease; add to those, patients still waiting for a diagnosis, patients who have been misdiagnosed, and adults and children who have diseases not yet named or recognized.
All my life doctors told me “it’s all in your head,” and “you’re overreacting.” It was belittling and humiliating. I was constantly catching colds and infections that never seemed to resolve. I was becoming more and more run down and as I struggled to fight for the only solution that seemed to help (constant antibiotics) I realized that I might never know what was really going on inside my body. It wasn’t until I found an infectious disease doctor, after hundreds of tests, hospital visits, and doctor appointments that I was finally tested for Hypogammaglobulinanemia. Years later, I would be diagnosed with another chronic illness called Dysautonomia—or the dysfunction of the autonomic nervous system.
All patients, in whatever stage of their diagnostic odyssey deserve support. That’s why next month Global Genes will be celebrating Undiagnosed Diseases Awareness. And we want to showcase patient stories to see how we can help you find answers.