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Visit to NIH



Last month I made another visit to the National Institutes of Health (NIH) as part of the natural history study on Hermansky-Pudlak Syndrome or HPS. It was the first time that, to be honest, I wasn’t really excited about going. Don’t get me wrong. I was happy to go, but for me, it was different this time.

I’m at a point with my HPS where there is nothing left to do. I am taking all of the medications I am able to take to help. I am on the transplant list, doing my rehab, and continuing to try to eat healthy and lose more weight. The only thing I was going to learn from the trip is that my lung disease is worse. I know that. In fact, I was pretty sure I wouldn’t learn it was stable because I get seen by a pulmonogist about every month and a half. My numbers are steadly tracking downward, and my oxygen needs continue to creep upwards. So, progression wasn’t exactly a news flash.

But then going to NIH isn’t about yourself. They tell you that participating in research has no benefit for you. I’d disagree. I think it has benefits – they just aren’t monetary, and they may not be clinical exactly. Participating in research, however, has been very personally meaningful. It is therapeutic for me to know that someone else can benefit from what I am experiencing now. It is therapeutic to be able to create hope for a different future, even if it won’t benefit you directly. And, that is why I went back this time, even though it wasn’t easy and even though I wasn’t thrilled to be doing more tests. It isn’t about me. It never was supposed to be about me.

Sure enough, my numbers were worse. No surprise there. I was just happy that they weren’t very different than the numbers I recently had at the transplant center. In fact, they were just about the same.

The respiratory therapist who did my pulmonary function tests was a saint! It was my last test, the end of the working day, and it took an hour and a half to finish my pulmonary function tests. Normally they take about a half hour, maybe a tad more, depending on what tests you are doing. The problem was my hellish cough. When I would take a deep breath to try to do the tests, I would start coughing and coughing and coughing. I’d pause for a bit, take a sip of water even though I know it doesn’t really help, and then try again. I was trying again perhaps too soon. If I try to talk or move around too soon after a coughing fit, even after it ends, it just starts the spasms up all over again. I was worried, however, that this poor guy had to get home. It was six in the evening before we finished, and the clinic was supposed to close at five. He was a real trooper!

I was grateful that not too much was made of my wrap up. In the past I wanted to know everything about everything. I had zillions of questions to ask and I liked getting to see my CT scan. Now, I really didn’t want to dwell too much on the results because there was nothing I could really do with them. After years of attending lectures on pulmonary medicine, I know what the typical prognosis is for someone with my numbers, and I try not to think about it too much. I’ve already outlived predictions made about my life expectancy several times.

The NIH had compressed three days of testing into one day for me. They cut out anything that wasn’t absolutely necessary for their understanding and research. This way I didn’t have to spend the night. With the oxygen needs I now have, that would have meant probably staying in the hospital. Not only is that an extra expense for the research budget, but it runs the risk of exposing me to more germs. At this point in my disease, catching any kind of a bug, especially a respiratory one, could drastically accelerate disease progression. I have to be super careful. I was so grateful that they were able to do that for me.

I can no longer fly, (even if I didn’t have to be close to my transplant center) so if I didn’t live locally, I don’t think I would have been able to go to NIH. I hope that this gave them a look at someone with advanced disease that they might not see all the time.



I can never put into words adequately how important it is that we participate in research. It is easy to say someone else can be inconvenienced. Someone else will do it. But, at the end of the day, someone has to actually do it. With a rare disease, every person counts so much! Without volunteers, there will be no treatments and no cures. We can’t afford to think it is up to someone else.

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