I think most of the regular readers are also following Katy’s blog. But, for those who aren’t, Katy is still in need of our prayers. Sometime this weekend she’s expected to be transferred from the hospital in Roanoke to the University of Virginia. Katy’s case has been a tough one to figure out. She has strong reactions to the medications, and I suspect may be experiencing some secondary complications to HPS (although I don’t know – I’m not there.)
I hope the doctors there are able to nail down what else might be going on, if anything, and take care of it so Katy can get back to her normal life. I’ve wracked my brain about who else to consult, what else to try etc. I’m always exceedingly careful to not give medical advice (other than my own experience, which I stress is only that.) I’ve done medical literature searches, gone through my list of contacts and I haven’t come up with anything.
I’m not a doctor, and we HPS’ers are not all the same. Some have a mild colitis that responds well to drugs. Some, as in my case, spend some time working up to a major acute episode so by the time we get there, we’ve already been sorting through the list of drugs to try. I think I tried nine different ones and had allergic reactions to all but two. In the end, I still had to have my colon removed, and was on steroids for some time afterwards just to be sure we’d knocked the colitis into remission. It’s a long process, and it’s the worst the first time around because everything is so new, everyone is learning, and there’s a lot of trial and error.
When we go to a doctor, we like to think they know exactly what to do. But, if you’ve got a rare disease, that’s a luxury. Hermansky-Pudlak Syndrome is currently known to affect about 800 people around the world (although I’m confident there are more that are never diagnosed.) That means you’re really lucky if you find a doc who has ever even seen someone with HPS. And even if they’ve seen someone with HPS, that doesn’t mean that your case is going to have the same answers as the one they experienced earlier in their career.
In lieu of that, you’ve got to go for the doc. that really wants your case. You’ve got to find the doc. that finds you fascinating and is like a dog with a bone trying to find the answers. Finding a doctor is something I’ll blog about in a separate entry.
For now, please pray that the University of Virginia is able to bring new resources and a fresh eye to the situation.
I hope the doctors there are able to nail down what else might be going on, if anything, and take care of it so Katy can get back to her normal life. I’ve wracked my brain about who else to consult, what else to try etc. I’m always exceedingly careful to not give medical advice (other than my own experience, which I stress is only that.) I’ve done medical literature searches, gone through my list of contacts and I haven’t come up with anything.
I’m not a doctor, and we HPS’ers are not all the same. Some have a mild colitis that responds well to drugs. Some, as in my case, spend some time working up to a major acute episode so by the time we get there, we’ve already been sorting through the list of drugs to try. I think I tried nine different ones and had allergic reactions to all but two. In the end, I still had to have my colon removed, and was on steroids for some time afterwards just to be sure we’d knocked the colitis into remission. It’s a long process, and it’s the worst the first time around because everything is so new, everyone is learning, and there’s a lot of trial and error.
When we go to a doctor, we like to think they know exactly what to do. But, if you’ve got a rare disease, that’s a luxury. Hermansky-Pudlak Syndrome is currently known to affect about 800 people around the world (although I’m confident there are more that are never diagnosed.) That means you’re really lucky if you find a doc who has ever even seen someone with HPS. And even if they’ve seen someone with HPS, that doesn’t mean that your case is going to have the same answers as the one they experienced earlier in their career.
In lieu of that, you’ve got to go for the doc. that really wants your case. You’ve got to find the doc. that finds you fascinating and is like a dog with a bone trying to find the answers. Finding a doctor is something I’ll blog about in a separate entry.
For now, please pray that the University of Virginia is able to bring new resources and a fresh eye to the situation.
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