In no particular order, Ana’s post brought up another issue that sometimes is a hard one for me – to test or not to test. Sometimes when doing outreach in the general albinism community I feel like the specter of doom. Here are these families that have been through the shock of having a child with albinism, come to realize that albinism generally isn’t that big a deal – and then I come along. Or, someone who’s gone their entire life thinking they had one sort of albinism because some geneticist made a diagnosis based of physical appearance, and then later in life they begin to develop other health issues – and here I come. I really don’t know how Donna’s done it all these years!
But I do it because I know how important it can be. I hope that one day screening for HPS is part of the standard workup for any child born with albinism. Most will test negative for it, but the few that test positive will be spared some of the dramas we’ve seen unfold at the HPS Network.
Take, for example, the family that took their child to have tubes put in her ears only to have the child hemorrhage severely in the gift shop of the hospital on the way home. Or the young man in his early 20s that went to a big city ER complaining that he was having trouble breathing. They did tests for TB, HIV and drug abuse. Finally, unable to find the problem, he was admitted and the doctors performed an open lung biopsy. Unaware until it was too late that he had HPS, he bled to death. Contrast that with the mother that knew her child had HPS, and thus when the child needed open heart surgery to repair a hole in the heart, the doctors were able to take appropriate measures to control the bleeding. I shudder to think what the outcome could have been if no one knew.
While there is no cure for HPS, there are things you can do to treat bleeding complications. There are also things you can do to try to keep the bowel and the lungs healthy longer. If you don’t know you’ve got HPS, and thus are at risk for these problems, then you can’t take proper care of yourself.
Still, I think many people with albinism are afraid to seek testing. Things seem okay, so why bother? Even doctors often discourage people from getting testing, dismissing them as hypochondriacs because HPS is so rare, they couldn’t possibly have it.
The test for HPS is a simple blood test. Why not be sure? HPS is sort of like being pregnant. Ignoring the possibility that you could be pregnant isn’t going to keep the baby from appearing in nine months.
But I do it because I know how important it can be. I hope that one day screening for HPS is part of the standard workup for any child born with albinism. Most will test negative for it, but the few that test positive will be spared some of the dramas we’ve seen unfold at the HPS Network.
Take, for example, the family that took their child to have tubes put in her ears only to have the child hemorrhage severely in the gift shop of the hospital on the way home. Or the young man in his early 20s that went to a big city ER complaining that he was having trouble breathing. They did tests for TB, HIV and drug abuse. Finally, unable to find the problem, he was admitted and the doctors performed an open lung biopsy. Unaware until it was too late that he had HPS, he bled to death. Contrast that with the mother that knew her child had HPS, and thus when the child needed open heart surgery to repair a hole in the heart, the doctors were able to take appropriate measures to control the bleeding. I shudder to think what the outcome could have been if no one knew.
While there is no cure for HPS, there are things you can do to treat bleeding complications. There are also things you can do to try to keep the bowel and the lungs healthy longer. If you don’t know you’ve got HPS, and thus are at risk for these problems, then you can’t take proper care of yourself.
Still, I think many people with albinism are afraid to seek testing. Things seem okay, so why bother? Even doctors often discourage people from getting testing, dismissing them as hypochondriacs because HPS is so rare, they couldn’t possibly have it.
The test for HPS is a simple blood test. Why not be sure? HPS is sort of like being pregnant. Ignoring the possibility that you could be pregnant isn’t going to keep the baby from appearing in nine months.
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