Living on the frontlines

Dr. Michael Beers, professor of medicine at the University of Pennsylvania Medical School, has confirmed he will attend the Hermansky-Pudlak Syndrome scientific workshop to be held in conjunction with the HPS Network Conference in March. Read more about it at:  https://www.hpsnetwork.org/en/news/2013-11-25/beers-to-attend-hps-scientific-meeting

Donna Appell, Founder and CEO of the Hermansky-Pudlak Syndrome Network, spoke to students in the genetic counseling program at Sarah Lawrence College in early November. Her presentation focused on the basics of HPS and the importance of read more  

I should have read all the way through my e-mail before posting an update. We have another new HPSer - this puts us at 42 to go on the Hundred People Search. 

We've added a new HPSer to the patient registry. This puts us at 43 to go on the Hundred People Search - H.P.S. Keep up the great outreach! 

We've added a new member to the HPS patient registry. This now puts us at 44 to go on the Hundred People Search for this year (ending in March.) Keep up the great outreach! 

We've added a new member to the patient registry. This puts us at 45 to go on this year's Hundred People Search. Everyone keep up the great outreach work. This member came to us from the online outreach efforts of another member. Way to go! 

It's not too early to book your hotel for the 21st Annual HPS Conference! You can book online at: http://tinyurl.com/hps2014

All diseases have their milestones. This November is a big milestone for Chediak-Higashi Syndrome (CHS).  For readers that might not know, CHS is a cousin disorder to HPS. It is another syndrome that involves albinism, although often the albinism is quite mild. Like HPS, people with CHS often have problems with the delta dense bodies on their platelets. CHS and HPS are both problems of protein trafficking. Those with CHS, however, have immune problems from birth on. Usually (though not always) these problems are quite severe and require one, if not several, bone marrow transplants.  Thanks to bone marrow transplants, kids with CHS are living longer more often. Still, in early adulthood they tend to develop progressive neurological complications.  Hermansky-Pudlak Syndrome is a rare disorder, but Chediak-Higashi Syndrome is even more rare.  For many years the HPS Network has served as a defacto home for those with CHS. Sometimes they've been misdiagnosed with HPS first. Beca

A question I always get from members is, how can I volunteer to help the HPS Network? One way anyone with an internet connection can help is to be an online advocate. Today’s world is an online world. Getting noticed isn’t as much about the actual number of people affected by HPS as much as it is about how engaged those of us with HPS are online and on social media. We can exercise as much muscle as some of the “big charities” if we are better at mobilizing our population. You’d be surprised how some of the little things you can do every day will help the HPS Network. Here’s a list of ways you can help online. 1. Share the HPS Network Website, www.hpsnetwork.org . Search engines crawl the internet and rank Websites based on a number of factors. One of the factors is how many other places and Websites offer a link to the HPS Network site. If you have a blog, please mention the HPS Network Website whenever you can. List it on your blogroll. If you’re posting to twitter or facebook, pleas

The HPS Network Puerto Rico celebrated its eighth annual conference at the Centro de Convenciones Cooperativo de Aguada, on Aug. 24th in Aguada, Puerto Rico. More than 300 people with Hermansky-Pudlak Syndrome (HPS) and their families came to meet one another, hear from a panel of experts and some even participated in HPS research at the event. Read more at:  https://www.hpsnetwork.org/en/news/2013-11-03/hps-network-puerto-rico-celebrates-8th-annual-conference