Living on the frontlines

I know it's not quite Halloween, but when you plan events for the Christmas season, you've got to plan early. It's Christmas season in the HPS Network as we plan for the HPS Network Christmas Concert. I'll be posting much more about some of the exciting plans we have for the first time this year. One of them is that we will be auctioning off decorated Christmas trees at the concert. I've been collecting handmade ornaments of all different types. I want to give a shout out to The Yarn Shop and More in downtown Overland Park for helping by collecting ornaments from customers and staff. You all rock! Thank You. If you're an HPSer that would like to tell them thanks, please leave a comment on their facebook page at:  https://www.facebook.com/pages/Yarn-Shop-and-more/146911838655014

We are very excited that Dr. Daniel Kotton is coming to the Science Meeting at the 21st Annual HPS Network Conference. He is very well known in the stem cell field and, we hope, will be able to help with taking stem cells from our blood, and turning them to specific types of HPS lung cells needed for research. To learn more about him, go to:  http://www.hpsnetwork.org/en/news/2013-10-25/dr-kotton-to-attend-hps-scientific-meeting

I was looking something up on the NIH Website today and saw this video. In recent years NIH has been doing a lot more research on the vision of people with albinism in general. Many people with albinism that is not due to HPS or CHS have visited NIH in the past few years.. In past years with early research, many, many in the Hermansky-Pudlak Syndrome community were the first to lend their eyes to research. We were already going to the NIH for HPS research so it was an easy and convenient connection to make. We continue to be seen at the NIH Eye Clinic. I do have some thoughts about this research of a personal nature, but it's a busy day. They'll have to wait.  Here's the video:  http://www.youtube.com/watch?v=uyaj_NnfF3o

I've been trying to order ostomy supplies today. How long can a human be on hold? I think I'm going to find out. I saw this pic on the Net....wish I knew where it came from to give credit where credit is due. It's a great representation of how I think of ostomy supplies - like crapping on money and flushing it (only you don't flush supplies - you throw them away.) 

I think we in the Hermansky-Pudlak Syndrome community understand the gift of life better than most. We wait with anxiety and anticipation with our friends in need of new lungs. We pray that some family out there somewhere will have the heart and the strength to make a gift of their loved ones lungs when they are in such pain and grief themselves.  As HPSers, we can give as well as receive. We have it in our power to give the gift of life and hope to our HPS friends for years to come. For us, the gift might not be as straight forward, but it is as precious all the same. We can give the gift of tissue for research. We can do this in lots of ways. If you have a planned surgery or biopsy, contact the HPS Network and let us know. This way, we can consult with the researchers to determine whether what you’re having removed or sampled could have some value to our research. For example, last year an HPSer having an overy removed let us know. We didn’t think it would be of interest to researche

Donna Appell, President and Founder of the HPS Network, recently spoke at a patient advocacy conference held by the Global Genes Project. Care givers come in lots of different forms. Sometimes its our family or friends caring for us. Sometimes, if you're an advocate, you find yourself caring for other HPSers or other friends.  This panel addressed the need for caretakers to take care of themselves. It is something that is SO HARD to do!  Here's a link to video from the conference session:  http://vimeo.com/76072471

Today I've been working on plastering this survey link everywhere I can think of. It is very important that we get as many answers as soon as possible. While not perhaps the most scientific of surveys, one of our researchers needs this data for a grant she is trying to get to further our research.  It is not information we track in the patient registry.  Honestly, it is also information we could use to plan future HPS outreach efforts.  It doesn't matter if you live in a place with lots of other HPSers. Most of us don't have that luxury. We do need, however, to get a feeling for where our population is being treated.  The survey honestly takes about 30 seconds. If you are filling it out on behalf of your child with HPS, please fill out one survey for each child with HPS (as if you have two kids with HPS, they would count as two patients at your local hospital.)  Here is the link: https://www.surveymonkey.com/s/BW2R8Z6

Dr. Louis Cohen is interested in doing research on the gastrointestinal complications of Hermansky-Pudlak Syndrome (HPS). He will attend most of the scientific meeting on Saturday, but will leave early to join patients with the GI complications of HPS at the GI Wish I Felt Better session. This year Dr. Cohen will not present at the conference. Instead, he hopes to meet patients with the GI complications of HPS to learn more about how their lives are affected. Dr. Cohen is a gastroenterology fellow at Mount Sinai Hospital and is working on a master degree in transitional research at Rockefeller University. At Rockefeller, he is also a post-doctorate fellow in the Clinical Scholars Program and works in a lab studying genetically encoded small molecules. Cohen received his medical degree from Tufts University in Boston and did his residency at Massachusetts General Hospital. From 2007 to 2010 he served on the institutional review board at Mass. General Hospital. From 2003 to 2005 Cohen co

Dr. Jesse Roman, Professor and Chairman of the Department of Medicine at the University of Louisville, has confirmed he will attend the HPS Network’s scientific meeting, to be held March 8th in conjunction with the HPS Network’s Annual Conference.  This will be Dr. Roman’s first HPS meeting and experience with the HPS patient community.  The meeting will explore using stem cells derived from blood samples of patients with HPS to grow HPS lung tissue for research.  Dr. Roman received his M.D. from the University of Puerto Rico School of Medicine in 1983.  After undergoing training in Internal Medicine at the San Juan VA Medical Center in Puerto Rico, he joined the Pulmonary & Critical Care Medicine Fellowship Program at Washington University School of Medicine, St. Louis, Missouri.  In 1991, Dr. Roman joined the faculty at Emory University as Assistant Professor of Medicine.  He served as Pulmonary Section Chief at the Atlanta VA from 1994 to 2000, Associate Division Director from

I’m really excited about something new we are doing at this year’s 21st Annual HPS Network Conference. For a decade now, while we were off having our Saturday afternoon sessions, some of our key researchers and doctors scheduled to speak on Science Sunday got together informally. They had lunch, maybe a glass of wine and a snack, and talked about their work together. It was a great chance for them to form relationships in person and form collaborations.  This year, however, we’re stepping up the game. What was an informal meeting will now be a formal, invitation-only science meeting for HPS researchers and physicians. The formalized agenda will involve presentations about how we can use stem cells taken from the blood samples of those with HPS to grow HPS lung tissue. It’s important to understand that this isn’t a discussion about how to grow us new lungs in a dish. It is also not a meeting that will be attended by patients. We need to let our researchers talk among themselves in such

The HPS Network will be auctioning off three-foot decorated Christmas trees as part of our annual HPS Christmas Concert Benefit. We are in need of handmade ornaments to decorate the trees. If you’re crafty, and you’d like to help, send your creations to: One South Road, Oyster Bay, NY 11771. We need the decorations by Dec. 1st.

Photo: HPS, the next generation. The other day I was watching an episode of Star Trek: The Next Generation . Dr. Beverly Crusher was in the sick bay treating Warf. She mentioned sequencing his DNA to try to predict an outcome and create a treatment. It occurred to me that, while Star Trek takes place in the 24th century, it was written in the late 1980s to early 1990s. Think about it. We were still trying to sequence the human genome then. It costs millions and millions of dollars. Now, the price is coming down to practical usage range. The idea isn’t a 24th century dream for utopia. It is here and developing further every day. It isn’t so much a fiction now, but more of a fact. As amazing as that is, in our lives living with HPS, it sure doesn’t feel like science is moving very fast. Instead, sometimes it feels like things are creeping along. Watching grass grow can seem to move faster. In the last few weeks I’ve spoken with a few HPSers that I felt like were politely trying to tel

We interrupt this blog for a little housekeeping business. This blog has had a kind of evolutionary history.  In the beginning I hoped to document my personal experiences and emotions living with Hermansky-Pudlak Syndrome. I chronicled my experiences in the drug trial, participating in the documentary etc.  Then it sort of became a news site for HPS news. This was before the HPS Network's current Website (www.hpsnetwork.org) that allows us to update news easily and quickly. It was before Facebook and Twitter.  As my work with the HPS Network grew and grew, especially in the last five years, I haven't been as good about updating the blog. Honestly, it's for a lot of reasons. The Network has a lot of social media outlets now, and I keep them up for the most part. That is a very time consuming job, even when you find techie short cuts.  The other reason is often I can no longer share my personal experiences about living with HPS because it might mean giving away thin

It’s so great to get to post when I get to brag on one of our own. Nisha is a 15-year-old HPSer, recently returned from Space Camp. She was able to get a scholarship from NOAH. This may sound corny, but I see HPS kids as “my kids.” I don’t have kids of my own. Most of what I do to try to find better treatments, and someday a cure, will likely never benefit me. It gives me meaning and happiness because I think it will one day benefit them. I don’t have kids, but I know these kids will live on and live better lives if we do the work for the cure now. I’ve known Nisha’s mom for years and met them both twice at an HPS conference. I’m very grateful to them both for being so willing to share their HPS story. You see, Nisha is the poster child for why all kids diagnosed with albinism should be screened for HPS. She’s a great example of why it is so important to know for sure. That’s a hard sell in the medical world, but it is the Nishas I’ve met that convince me we are right about