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Showing posts from November, 2013

Hundred People Search Update

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!

Chediak-Higashi Scientific Meeting coming up in November

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. Because our pro…

Be an online advocate

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, 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, please…

A few snaps from the Puerto Rico Conference

HPS Network Puerto Rico celebrates 8th Annual Conference

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: