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What HPS research can offer the greater pulmonary fibrosis community

While working on going through everything I collected, wrote down etc. from the recent American Thoracic Society meeting, I found this abstract about potential biomarkers in Hermansky-Pudlak Syndrome Pulmonary Fibrosis. This is not a done deal yet, sort of speak, but to me, it's an exciting development. 

For HPS, finding meaningful biomarkers that directly tie to lung fibrosis progression, and not just HPS in general, could help our efforts for better treatments, and someday, a cure. 

Because people with HPS can know they will develop lung fibrosis way, way, before it ever happens, we offer researchers a unique opportunity to uncover early warning signs for pulmonary fibrosis. I can't think of another pulmonary fibrosis population that 100 percent knows they will get pulmonary fibrosis, sometimes decades before it happens. There may be one out there, but I'm not aware of it. 

For people with HPS, or someday others at higher risk for PF due to genetics or exposures, these biomarkers may someday help doctors know the perfect time to start therapies that could preserve lung function. 

These biomarkers could also greatly help prove whether drugs work in future drug trials. 

It's pretty exciting stuff! I wanted to post it here, however, for a few reasons. 

First, as a very, very rare disorder we can often be overlooked. Our funding can be harder to get. Why, after all, spend money on such a rare disease instead of on something that affects more people. This research is a great example of how the rare can be a good investment for more common disorders. 

Second, this research would never be possible without the patients with Hermansky-Pudlak Syndrome who take the time out of their busy lives to participate in research. 

It isn't easy. Many of us have kids, jobs or other responsibilities that make it hard to take days out of our lives to travel, often across the country, to participate in research. It isn't convenient for any of us. Yet, without these willing people there would be no biomarkers to look for - no reason for researchers to keep looking for better treatments - in short, no reason to find a cure. 

So, thank you to all the HPSers who travel to NIH, or who are participating in the Young Lung centers. We know it is a sacrifice, but what you are buying us all is hope. 

Here is the research that got me excited today: 
http://www.atsjournals.org/doi/abs/10.1164/ajrccm-conference.2017.195.1_MeetingAbstracts.A6799

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