Living on the frontlines

For the past year I haven’t blogged about probably one of the most important events in my life. I’ve wanted to hundreds of times, but I’m so emotional about it that every time I start to tell the story, I get teary. Since today is the first anniversary since his adoption, I am determined to get through writing this post! Little in life has turned out the way I wanted it, or how I thought it would be, or how I planned things. Hermansky-Pudlak Syndrome affects different people differently. Some have little problems their entire lives, while others are profoundly affected throughout their lives. Chronic illness can impact every part of your life. It can affect personal relationships, comes with great financial costs and can radically alter life goals. Simple things I assumed I’d experience in life such as getting married and having children, having a career, owning a home or having even modest financial security have all been altered or influenced by chronic health issues throughout my ...

Yep, still hugely behind on blogging! I feel badly as I promised all of the people helping me raise money to try for a lung transplant that I would keep them all updated here. So, here is the update. A few weeks ago I had PFTs again (pulmonary function tests.) The two numbers we watch pretty closely with Hermansky-Pudlak Syndrome are the FVC and DLCO. FVC stands for Forced Vital Capacity. It is the volume of air you can force out after taking the deepest breath you can. It is measured in liters, but also in percent predicted. The percent predicted takes into account your sex, age, weight as compared to the general population to compare you with others like you. My forced vital capacity was 74 percent of normal. While not terrific, it actually went up one point (mind you, that’s within the margin of error, but I do love it when things go up.) The other number that we pay especially close attention to is the DLCO, or diffusion capacity. It measures how well oxygen moves through the tissu...

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...

Today we added a new HPSer to the patient registry. This puts us at 87 to go on this year's Hundred People Search. We are way behind where we usually are, but we usually pick up 40 new people or so when we go to Puerto Rico. Since that didn't happen this year, we are a bit behind where we usually are. Now that there is a therapy available for the lung disease, it is just another reason why getting HPSers diagnosed and into the patient registry is so important.