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Meet Sandy!


One thing I’ve always wanted to do through this blog is share Hermansky-Pudlak Syndrome stories as well as related stories. Sandy, (like Sheena who appeared here a few months ago) is one of those related stories we’re hoping can one day shed some light on these disease pathways for everyone. Sandy doesn’t have albinism, nor does she have a vision impairment. Yet, her platelets are missing delta dense bodies, just like people with HPS. How did this happen? Why is it that she doesn’t also have albinism, not even a slight pigment issue? What else then is causing the cascade of symptoms for HPS’ers?

Even though the answers won’t be immediate for Sandy, she believes in getting to the bottom of things and was willing to give up a week of her life to undergo a battery of tests that one day could help everyone. The picture above is of Sandy at the NIH. Thanks Sandy for being willing to do that!

The doctors at NIH are sending Sandy’s platelets off to be studied in Europe. Sandy created this cartoon when she got home. Pretty sad when your platelets take better vacations than you do eh? HA!










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Care said…
I got to meet Sandy in person at the NIH, when I was there with Ethan. Ethan is like Sandy in that he has no pigmentation issues, but he does have the platelet defect. We are waiting anxiously for all of the bloodwork results from MN and Europe. Remind me and I'll send you a picture of Ethan at NIH last week.
9:26 AM
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