Photo: Donna Appell, president and founder of the Hermansky-Pudlak Syndrome (HPS) Network, and Lisa Young, a pediatric pulmonologist with an interest in HPS, at the American Thoracic Society Annual Meeting in San Diego in 2005. Thanks to everyone who’s e-mailed me to check up on the cough. As my co-workers will tell you, it’s still here. Tuesday I thought I’d about kicked it. I even went to church, ran some errands etc…but Wednesday it was back. It’s still much improved over last week, but not quite gone. Paul, who sits behind me at work, said yesterday, “Geesh Heather, just listening to that makes my ribs hurt.” Yeah, makes mine hurt too! It’s almost as though I can feel everyone wincing after a particularly bad run of it.
The other problem is it’s slowing me down at work. While it isn’t a constant cough, once I get going the coughing can last 10 to 15 minutes, after which I feel exhausted. I also feel like my brain is rattling around in my head and I go back to whatever I was writing slightly dazed.
Last night I came home from work, talked to Karen (the guest blogger) for about 45 minutes (whined is more like it) and then went to bed. I didn’t really get up until this morning, although it was another sleepless night. I started running a fever again, and in the middle of the night it spiked to about 101, making me all sweaty and achy. By morning, however, things were back to normal.
I got up early because I had a conference call about my little talk at the American Thoracic Society in May. This will be the third year I’ve spoken at their annual meeting – something I’m thrilled to do.
It cracks me up because they contact me and ask in the most polite, most reserved way, “Do you think you could speak on…..” I feel like answering, “Hell, if you want me to speak about why the sky is blue, I’ll do it!” I settle for a very dignified, “I’d be delighted to do it.” Anything to build awareness about Hermansky-Pudlak Syndrome – we’re like a bunch of zealots with religion we HPS’ers.
Speaking to groups like ATS about Hermansky-Pudlak Syndrome is just one of the many things we do on the road to the cure. Think of it like building a path made of cobble stones – everything we do, whether it’s speaking at ATS, or raising money, or writing a grant – it’s just laying out another stone on the path.
By speaking at ATS, and having a booth on the trade show floor, and maybe a scientific poster in the scientific poster session, we’re hoping, praying, that there’s someone walking around that meeting, someone sitting in a session, or casually looking at our poster, who might have a few stones of their own to add to the path.
There is so much knowledge out there, and it grows by so much more every month, that I can’t help but think there’s some bench researcher in a lab somewhere that’s just sitting on the missing piece that will help put the entire picture together. He or she might not have even heard of Hermansky-Pudlak Syndrome, and if they only knew perhaps they’d realize they hold a piece of information that could help us.
The other way we might find help at ATS is from the doctors. They walk past our booth and squint at the sign. I sometimes feel like we should put a banner under our booth sign that says, “Don’t worry, no one else knows what is either – please ask.”
Hermansky-Pudlak Syndrome is exceedingly rare, an orphan among orphan diseases, and as such I believe that the diagnosis is often missed. It was in my case, after all, and in many others that I know about.
After all, who would think to link albinism, typically considered an eye condition, with pulmonary fibrosis, a lung problem? So Donna and I stand there, armed with our pictures of people with HPS, and try to restrain ourselves from leaping into the aisle and physically dragging people into our booth.
Occasionally, someone will walk past and refuse a pamphlet saying, “I don’t have any patients with HPS.” Are you sure, we ask them? Usually the challenge is enough to make them stop so that we can go into our talk about what to look for. We encourage them to check their pulmonary fibrosis patients for nystagmus, explaining that not everyone with albinism has lovely blonde hair like me. We also explain that the bleeding tendency can vary widely, so patients are sometimes not even aware of it. They leave, and we glow – mission accomplished.
We need to get people with HPS properly diagnosed for a lot of reasons. First, although there isn’t currently a treatment available for the lung complications, we’re working on it. How terrible would it be to find the cure, and then not be able to tell the people that need to know most? Another reason is that while there’s no treatment, there are things you can avoid to try to at least not accelerate the process, such as avoiding cigarette smoke or other toxins. Another reason is the potential for serious bleeding complications. The bleeding of HPS is pretty easy to treat, if you know what you’re dealing with. A trauma, or a major surgery, is not the best time to find out you’ve got a bleeding disorder.
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