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The first treatment has arrived!

This has been a historic fall for those with Hermansky-Pudlak Syndrome! I’ve been so busy helping to handle all the opportunities flooding our direction, and keep things on track, that I’m very behind on news stories, and even more behind on blogging!

How could I possibly have missed blogging about one of the biggest milestones in HPS history in the United States? Just think, there are things in the works so important that even this got put to the side for me!!!! That’s how exciting things are right now in HPSland!

In October the Food and Drug Administration (FDA) approved not one, but two, therapies for idiopathic pulmonary fibrosis! The first one, Esbriet (Pirfenidone) is the same drug the HPS community participated in clinical trials to use, so we do have some history with it. I was in one of those trials.

The day it happened, I felt so happy I could have exploded with joy! When I first was officially diagnosed with HPS in 2002 (long story), there were no treatments. Lung transplant centers thus far had refused to even try to transplant someone with HPS for fear of the bleeding complications.

Now my health is steadily getting worse and I am trying to get a lung transplant, yet I’m so thrilled and grateful that I lived long enough to see the day when we had 14 HPS lung transplants under our belt, and there was a legal treatment for pulmonary fibrosis in the United States. It has been such a long road of hard, hard work!

I know most people who have the privledge of taking a medication every day to help them never appreciate what it took from the researchers, the patients, the pharma company or the advocates to make that a reality. It is something I will never take for granted.

I worry, however, that my enthusiasm for this moment in history will oversell the drug to other HPSers. Let me be very clear. This is not a cure. We still have a long way to go. While there are a few anecdotal cases of some improvement, success with this drug is slowing the rate of progression – not improvement. I’ll be pretty happy if it just helps to stabilize my condition after the last year of being in a kind of free fall of progression. It also has some side effects. Some have no trouble with them, but others have a lot of trouble with the side effects. We are not taking a Tylenol here – this is a serious medication after all.

Perhaps it is the side effect of hope that is the best one for me though. Just when things looked so bleak, there is hope. I’m hoping I can surf this bleeding edge of medical science to make it to the next drug. There will be others. Ultimately, it will likely prove to be a drug cocktail of several mediations.

Now, we must keep advocating. We must always be the voice reminding the researchers, the government and the pharma companies that time is one of the most precious resources for us. It can never be replaced. The FDA had a chance to approve Esbriet three years ago. It was being used elsewhere in the world and even their own internal panel recommended it. Yet, they required a second phase III study. I wonder if I’d still be on oxygen if I’d had access to this drug a year ago? I wonder if some of those friends we’ve lost in the last three years would be here now if the drug had been approved? There are other drugs in the pipeline and every month that passes not deciding which drug we try next is lost time we simply don’t have.


So, we take a moment to celebrate this victory, yet we’re already on to the next advancement!

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