Living on the frontlines

At the end of every stay at the National Institutes of Health (NIH), the doctors do a “wrap up” session where they go over all your test results, explain what they mean, answer any questions, and give you copies to take home to your own doctor. After a week’s stay the moment of truth arrived – the wrap up session. I was intent to make the most of this session. The way I saw it, I’d just donated a week of my time to the research, submitted to every test without complaint, and so I’d earned the right to spend some time with Dr. Gahl and pick his brain about everything I’d read over the summer. (Not he doesn’t gladly take the time to answer questions.) I’d written out three pages of questions. This was my big chance to talk to the world’s foremost expert – and I wasn’t going to blow it. I remember the floor was quite full of patients that week, and so Dr. Gahl, his fellow, a small army of students and I walked up and down the hall trying to find an empty room to talk in private – or at le...

After a very long summer I traveled to the National Institutes of Health (NIH) in Bethesda, Md. to undergo the most extensive physical exam you can ever imagine. As I left, I believed I had Hermansky-Pudlak Syndrome (HPS), but was unsure what else I might learn from the trip. The idea of spending a week all alone in the hospital waiting to discover my fate was, well, scary and surreal at the same time. After nearly two months at Wesley Medical Center in Wichita in 1993, (what I referred to as staying at “the Wesley”) I had made a point of having as little to do with hospitals as possible. I’m a medical chicken at heart, scared to death of needles or pretty much anything with the potential to hurt, so the idea that I was volunteering for a week of scrutiny signified how concerned I really was about my prognosis. I needed to know where I stood. I remember thinking on the plane on the way to Washington that what I learned during the week would likely change the rest of my life – and it di...

There are certain times of year that I associate with certain HPS-related events in my life, and this is one of them. It was four years ago about this time when I figured out what having Hermansky-Pudlak Syndrome could mean long term. Sometimes I tell my diagnosis story in an abbreviated way because it’s too complicated for most five-minute presentations – but I consider my HPS diagnosis date to be the first week in August, 2002. The truth is I was first told I had Hermansky-Pudlak Syndrome when I had my colon removed in February, 1993. It was hardly much of a diagnosis. I’d call it a lucky, yet uninformed, guess. My blood work before the surgery showed clotting times twice what they should be. Before undergoing such a major surgery, my mother insisted that a hematologist be brought in and this anomaly explained. So, a hematologist was summoned, scratched his head, and disappeared into the hospital’s medical library for a day. (This was before the Internet made looking everything up so...