Skip to main content

HPS Press Release on GINA

FOR IMMEDIATE RELEASE
May 21, 2008

Contact: Donna Appell, President and Founder of the HPS Network, 1 (800) 789-9477

HPS Network applauds signage of the Genetic Information Non-discrimination Act


Oyster Bay, NY – The HPS Network commends the passage and signing of the Genetic Information Non-Discrimination Act (GINA). GINA will allow patients with HPS, as well as millions of others with genetic disorders, to seek out diagnostic testing without fear of retribution from employers or insurance companies.

Often patients are reluctant to be tested for a predisposition for genetic disorders like HPS because they fear increased insurance premiums or being unable to get insurance at all.

For patients with HPS, not being correctly diagnosed can be dangerous. HPS is a rare form of albinism that causes legal blindness, a bleeding disorder and in some mutations digestive problems as well as pulmonary fibrosis. The bleeding disorder of HPS can easily be managed if patients and their physicians are aware of the syndrome. However, life threatening complications could develop in the event of a trauma, surgery or childbirth if appropriate precautions are not taken.

“We hope that more families will seek testing without fear thanks to the passage of GINA,” said Donna Appell, President and Founder of the HPS Network, “Patients that go undiagnosed cost the healthcare system more because of extra care needed to treat issues not caught early.”

The HPS Network has lobbied for GINA for several years.

The passage of GINA will also make it possible for more patients to participate in clinical research that will one day lead to better treatments and cures without fear.

To speak to the HPS Network about the signing of GINA, or to speak with an HPS patient, call 1 (800) 789-9477.

For more information about HPS go to
www.hpsnetwork.org.

- 30 -

Comments

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

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.

Some good news about Pirfenidone

Below is a press release from Intermune, the company that makes Pirfenidone. They have essentially reviewed the various clinical trials going on, and decided that Pirfenidone is safe and well tolerated. That would pretty much go along with what we've observed in the HPS community as well. We have a few folks that have been on the drug since the late 90s and continue to do well. Of course, as a journalist, I do have to say consider the source - but at the same time, as someone in a Pirfenidone trial, it's good to know. Results of Comprehensive Safety Analysis of pirfenidone In IPF Patients Presented At European Respiratory Meeting - Analysis shows safety and tolerability of pirfenidone across four clinical trials - VIENNA, Sept. 14 /PRNewswire-FirstCall/ -- InterMune, Inc. (Nasdaq: ITMN ) today announced that the results of a comprehensive review of safety data from four clinical studies were presented at the 2009 European Respiratory Society Annual Congress in Vienna, Austria