Saturday, August 28, 2010

Mystery Diagnosis: The first round

Since its debut, the episode of Mystery Diagnosis featuring Hermansky-Pudlak Syndrome has aired a number of times. Each time we’ve had inquiries from people who identified with the story and would like to be tested for HPS. It’s been an interesting group.

With the exception of one person we’re pretty confident does not have HPS, everyone who has called in has albinism and GI issues. Several report all kinds of bleeding issues. The vast majority indeed do not appear to be of Puerto Rican heritage.

It’s amazing when you consider that HPS is supposed to be so rare – indeed so rare that some would argue no attention really needs to be paid to it. (Not me of course)

What are the odds that these people not only have symptoms of HPS, but happened to catch the episode of Mystery Diagnosis? How many more are out there that simply have never heard of the syndrome?

The next step is testing.

We can answer questions and help people seek testing, but that’s all we can do. It’s up to them to follow through, and truthfully often people don’t follow through. I only pray that these folks do indeed seek the testing. It could make a world of difference.

1 comment:

Shirlee McCoy said...

I watched that episode, and I was so glad the program featured HPS. I tried to research the syndrome before we adopted our daughter, but couldn't find much about it. Now that I am here, I see that I was simply not looking in the right places.

Thanks for posting on my blog. I feel blessed to be mothering Cheeky, and I hope I am building her up in a way that will serve her well as she reaches maturity.