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Diagnosis frustration

Doing outreach for a rare disorder isn’t easy. First you have to overcome the lack of knowledge out there about HPS. Then you have to find creative ways to reach out to those who might be affected. And if you manage to do all of that, sometimes even then it seems impossible to get people tested – and it’s starting to make me angry.

As I hope many of you know, the gold standard test for HPS is to view the blood platelets under an electron microscope. If they lack delta dense bodies, then the person has HPS. We’ve all heard the HPS Network explanation that “normal” platelets look like chocolate chip cookies, and HPS platelets look like butter cookies.

Although you can’t get this test done at just any hospital, Dr. White at the University of Minnesota is the one who not only invented the test, but he does it for free. The only expense is getting blood drawn and shipped to him. It isn’t even as difficult as a genetic test – the results typically come back in a few days.

Yet in the last few months we’ve had several families contact the Network seeking testing, only to run into a roadblock with their own physician. We send the families the information from Dr. White, including how to contact his lab, and yet the doctors dismiss the families. They brush off HPS as being “too rare” for anyone to actually have it. Sometimes they seem to think that the family is trolling the internet just searching for a diagnosis.

The thing is I think most physicians – most people for that matter – are well meaning. I’m trying to understand their perspective; why would they so quickly dismiss doing this testing, especially when the cost is so low and the benefit is so high? I’ve asked some of our HPS brain trust this question and have gotten a number of answers that mostly boil down to – Heather, get over it – you can’t fix this.

Maybe so, but it’s hard for me to watch this going on. Even if the physician thinks the patient is nuts, given the fact that the test is cheap in comparison to many other tests they might run, why wouldn’t they go ahead and order the test just to put the patient’s mind at ease?

In the meantime, I’d just encourage anyone seeking HPS testing to stand up for yourself. Advocate for yourself. Don’t give up too easily. It’s better to know for sure than to live in doubt.

Early diagnosis can help.

Comments

Anonymous said…
Hooray Heather! This is a great post! Let me add my experience with our daughter, Kathryn. When I had a GI doctor sneer at me when I asked for the HPS test, (after I found the information about Dr. White on the internet myself), I stood as straight and tall as I could, got within six inches of his face and said, "Do the test or I can find someone else who will!" We did find someone else, and when the same GI doctor found out I was right, he never spoke to me again. So that was a happy ending for both of us! Never give up. I got a whole lot more courageous after reading the book, "How Doctors Think."

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