Skip to main content

Expectations

We all have certain expectations in life, and with many expectations comes trepidation. For those of us living with HPS types 1, 2  and 4, pulmonary fibrosis is an expectation in our lives. We know it is coming, most likely before we’ve reached a ripe old age. Pulmonary Fibrosis is an ultimately fatal disease. The age of onset varies widely, even among siblings.

We live never knowing when this will present its self, or if anything we are doing might be a contributing factor.
It’s what makes HPS pulmonary fibrosis different from other types. It’s not just a genetic pre-disposition. It’s a fact – sooner or later.

Recently the HPS Network conducted a survey of people with HPS as part of a grant application. Researchers wanted patient feedback. Besides the obvious, the cure, what do those with HPS want researchers to focus on most? What most greatly impacts their quality of life?

Perhaps unique to HPSers with pulmonary fibrosis, it is the certainty of one day developing a fatal lung disease for which there is no treatment or cure. It’s a lot of anxiety to live with! But, bringing to the surface this reality for us was very helpful! It might seem obvious, but in the world of pulmonary fibrosis, it’s a little different. We want to know why it is that some people develop the lung disease at 20, while others at 40 and still others at 60? What happens? What contributes? What can we do to, at the very least, slow it down?

Such answers would be valuable for our physical health, but also our mental health.


I still believe early diagnosis and knowing your gene type are one of the best defenses we have. I believe it because, in my role with the Network, I’ve seen what happens when people don’t have this information. But, it is information that comes with a price. Knowing may make us more careful and our doctors more vigilant, but it also means living with this fuzzy crystal ball about the future. 
Labels:

Comments

Post a Comment

Popular posts from this blog

Ratner's Cheesecake

Here's another recipe from Toby! Thanks Toby......and I'll get the others posted soon! Ratner's Cheesecake and plain cookies Ratner's was a Jewish dairy restaurant in the lower East Side of Manhattan. This recipe, from my disintegrating, no longer in print Ratner's cookbook, is the closest I've ever gotten to reproducing the rich, heavy cheesecake my mother made when I was a kid. It's worth the time it takes to prepare and every last calorie. Dough Can be prepared in advance. Makes enough for two cakes. Can be frozen or used to make cookies – see recipe below. 1 cup sugar 1 teaspoon vanilla extract 1 cup shortening 1 teaspoon lemon extract 1 cup butter 2 eggs 3 cups sifted cake flour ½ teaspoon salt 2 cups all purpose flour 1 teaspoon baking powder 1. In a bowl, combine all ingredients with hands. Refrigerate 3 -4 hours, or preferably overnight. Filling (for
1 comment
Read more

The next generation with Hermansky-Pudlak Syndrome

I'm so behind on posting about the trip to Puerto Rico. Since the episode of Mystery Diagnosis on Hermansky-Pudlak Syndrome ran right after we got home, it's been a little busy. These, however, are my favorite pictures from Puerto Rico. I know, not pretty senery etc - but these little guys and gals inspire me. They are the next generation of folks with HPS, and if we keep up the hard work, they will live better lives because of it. They motivate me.
Post a Comment
Read more

Help for one of our newest HPS friends

As many of you know, I have a google alert set up for all sorts of key terms like albinism, pulmonary fibrosis etc. The following was posted on the blog of a friend of Melanie's. Melanie is one of our newest members of the Hermansky-Pudlak Syndrome family. Unfortunately, like so many she didn't know she had HPS and the lung disease sort of snuck up on her. Melanie will be 26 years old next week. Perhaps some of us would like to contribute to the fund set up to help her and her family for her birthday. Here's the post: Melanie Hernandez, beloved sister and daughter to Pete, Monique, Cookie, and Bugie, has been diagnosed with Pulmonary Fibrosis, a lung disease occurring in people with Hermansky-Pudlak Syndrome, a very rare disease.Hermansky-Pudlak Syndrome (“HPS”) is a genetic metabolic disorder. It is characterized by: Albinism, Vision Impairment, Bleeding Disorder, Inflammatory Bowel Disease and Lung Disease – Pulmonary Fibrosis. With the family’s research and the recollect
Post a Comment
Read more