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Frustration

This evening I got a call from one of the Network’s regional coordinators and she shared a story that just has my blood boiling. In her outreach work, she’d found a new person who has pretty much all of the indicators for Hermansky-Pudlak Syndrome (HPS). So, the information about HPS testing was passed along and the new person immediately made an appointment with her doctor and took him the information. The gold standard test for HPS is a blood test, but the blood is sent to the University of Minnesota to be viewed under an electron microscope by an expert. Arrangements have to be made to ensure that someone is in the lab to receive the blood sample when it’s sent. The doctor’s response, “I don’t have time to do this. HPS is rare, and you probably don’t have it.”

I could just scream! I might be irritated, but could at least get my head around his response, if there were no history to back up the suspicion. But that isn’t the case – yet a whole battery of other tests are being done. There isn’t a nurse, or even a secretary that could make a simple phone call?

It’s so hard to get people diagnosed before something traumatic has happened. In this case, we’ve managed to identify someone before something bad happens. Often people who aren’t very sick are afraid to seek HPS testing, but this person is very pro-active, recognizes her story in the literature about HPS and has actually gone to her doctor and sought out the test. I just don’t understand why he wouldn’t do it? I don’t get it! Kudos to the new person, whoever they are, for advocating for herself and I think the test will get done - although probably with a different doctor.

More later! It’s been quite the week in HPSland, and I need some sleep!
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