I am a girl with tremendous gratitude for life! Living with serious health conditions is all I know, I’ve been doing it all my life. It started with one genetic autoimmune disease and I’ve added on a few more conditions along the way. Through a life of perpetual doctor visits, medications, procedures, treatments and tests I’ve seen, survived and learned so much. My unique medical story has been featured on 60 Minutes and as part of a Pulitzer Prize winning series in the Chicago Tribune; I spoke before Congress when I was in high school on behalf of the Orphan Drug Act. I’m am so deeply grateful for the doctors who had the courage to look at my parents and admit, “I don’t know”, without their humble admissions I wouldn’t have survived this long. An optimistic attitude and a sense of humor has sustained me through the difficult times, I hope sharing my story will help empower others through their odyssey of chronic illness, serious health conditions and just trying to be normal.
Let’s start at the very beginning, I’ve heard it’s “a very good place to start”. Forty some-odd years ago I came along, born from San Francisco sunshine and it didn’t take long for my parents and doctors to realize something was quite different about me. I had my first ear infection before I even left the hospital; it was an early indication of what was to come. For the next seven years I spent a significant amount of time in and out of medical facilities perplexing doctors from California to Colorado to Michigan…and back again. Pneumonia was always my end result with each bout of a cold or the flu that came along. I was a very sick girl and no doctor I visited could figure out why; although some tried putting me through the wringer to prove they did, to no avail. Finally, a pediatrician took a wider view of my illnesses realizing spring and autumn seemed to be when I was the most sick and suggested I see an allergist. Little did I know THIS doctor visit would change my life.
The allergist reviewed my case and agreed with the pediatrician’s view that severe seasonal allergies were most likely the cause of my childhood spent in an almost perpetual state of illness. While in the allergist’s office a standard scratch test was performed on my back. Much to the doctor’s surprise I had no reactions whatsoever to the allergens, however, I was allergic to the control. A lightbulb went off, the allergist recalled reading something in a textbook case in medical school and he looked at my mother and said, “I don’t know exactly what’s wrong with her, but I can send you to someone who will.” It was a miracle! I was soon whisked off the University of California San Francisco to be seen by the Director of Pediatric Immunology and Clinical Research Center where I was quickly diagnosed with Severe Combined Immunodeficiency secondary to Adenosine Deaminase Deficiency (SCID-ADA). I caused quite the sensation at the time as at age seven I was the oldest living survivor of the disease.
A diagnosis was just the beginning, but being able to put a name to what had caused my health difficulties was a tremendous relief. In my blog I will share stories from my life-long journey of living with a serious health condition, and adding a few more serious health conditions along the way, from childhood to middle age (oh geez – when did that happen?!?!) always striving to be an empowered patient, staying as healthy as possible, living a normal life and getting out to explore the world as often as possible.