My name is Erin, and starting when I was four years old, I was always sick. Sinus infections, pneumonia, the flu, the common cold, mono – and any virus or bacterial infection that anyone around me got, I contracted. However, when I picked up illnesses, it was far worse and took much longer to get rid of. There were times in my life when I was on antibiotics for 8-10 months out of the year, and I usually couldn’t go longer than a month or two without getting another virus or infection.
By the time I was in my mid-twenties, I had had a dozen surgeries, including a hysterectomy because of complications from my as yet undiagnosed illness. Over the years, I started to get other strange symptoms like joint pain, debilitating fatigue, swollen lymph nodes, vision problems, persistent nausea, and enlarged spleen. I must have gone to hundreds of doctors in my lifetime, and was misdiagnosed with everything from fibromyalgia to chronic mono to mental illness. My parents were accused of being overprotective hypochondriacs, and I was even accused of being a drug seeker and it was probably ‘all in my head’.
Finally when I was 26 and had developed a MRSA infection in my sinuses that penetrated the bone, an infectious disease doctor decided to test me for CVID (common variable immune deficiency). When his tests concluded that I was unable to manufacture antibodies, we finally had our answer. I wasn’t crazy; I had a very rare disease that affects less than 6,000 people in the United States. I am 30 years old now, and I get monthly immunoglobulin transfusions. When I get sick, we use IV antibiotics to aggressively control infections and my quality of life is so much better.
Unfortunately, delays in diagnosis for CVID patients is very common, and this delay results in irreversible organ damage and shortened life span. It is my hope that projects like Global Genes Project will help raise awareness of all rare diseases, so that no other children will have to go through what I went through.
And if you are reading this and you are living a life of uncertainty and can’t get diagnosed, don’t give up. Keep going to doctors until someone finally gives you the answers you are looking for.
Never give up hope – it’s in our genes!