Family History, Social Media, and a Diagnostic Surprise

Am Fam Physician. 2015 Dec 1;92(11):980.

I was in my mid-30s when during one of my searches into my family tree, I entered my mother's unusual surname into Google to see if there were others who shared it. The search immediately led me to a mysterious post. Someone from a branch of the family I'd never known about, it turned out, was looking for my parents. By chance, I learned that this person was my half sister. We wrote back and forth, excited to have found each other. Not long afterward, she traveled from her country to visit me.

During the days we spent together, I noticed she had a scar on the back of her neck. It was exactly the same scar I had on the back of my neck. I'd had a surgery to remove a large hemangioblastoma from my cerebellum when I was 27 years old, and like my sister, I'd had some hearing loss in my right ear. My health problems for the past 20 years had never been diagnosed, but my sister's had. Needless to say, it didn't take long for me to be tested, and for the doctors to confirm that I had her genetic mutation. I had von Hippel-Lindau disease.

Since then, I've been treated at the National Institutes of Health, undergoing multiple surgeries to remove the cysts and tumors associated with the disease. Knowing what I'm fighting against, along with the professionalism and kindness of the agency's staff, has made it much easier for me to accept my illness. The Internet gave me a sister, and my sister gave me a diagnosis. Some blessings come in disguise!—j.a.

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