Living on the frontlines

On Saturday, the ATS holds an afternoon event for patients with lung disease. This year Demetria and her husband Russel were able to join us too! It was so cool to have more HPS patients there. Next year ATS is in Phillly, so we should have a good turnout! 

I'm passing this along from the American Foundation for the Blind - Current and Past College Students with Vision Loss Needed The American Foundation for the Blind's CareerConnect staff are doing a survey of of current or past college students who are blind or visually impaired specific to their college experience. AFB is looking for participants to take this short ten question informal survey. The information will be compiled and utilized for presentations, and to help prepare future college students with vision loss. http://www.afb.org/community.aspx?AnnouncementID=1280

The National Institutes of Health is interested in seeing HPS'ers with a gene type that does not cause lung disease. (This would be type 3, 5, 6, 7, or 8.......) They are interested in performing lung lavages on HPS'ers that are not at risk for lung disease in order to collect fluid for the lungs (BAL fluid) to be used to compare to that of HPS'ers that have gene types that do cause lung disease.  They have noticed that the BAL fluid of HPS'ers that have genes that cause lung disease has differences from that of control groups. They need to determine whether those differences are part of HPS in general, or whether they are unique to HPS'ers that will develop lung disease.  A lung lavage involves putting a tube down your throat and into your lungs, flushing liquid into the lungs, and then sucking up the fluid after you cough. It sounds horrible, but I've had it done several times and it's not that bad. They give you wonderful drugs! While you do have to b

I'll post a full story about this later. I've been a bit under the weather since I got home. I thought it was allergies, but now, I think it's something more. I'm debating about whether to go to the doc or not. I know, I know, I should got, but now it's been days and I keep thinking surely we're coming to the end of this crud! It needs to get better quick though! I'm back out on the road very shortly!  In the meantime, let the picture parade begin! (You all know how I am about my camera!)  As you see from the video below, the girls got creative while we were waiting for the booth to open. The ATS Center was located across from our booth. One of the guys in the booth put on some sunglasses and started dancing as they were practicing, so we headed over to give him a performance! These pics are the girls singing to the ATS booth staff, and Donna dancing! I got off easy - I had the camera! The power of the camera! 

Anthony Creer, husband of HPS’er Janet Perez, gave a presentation about Hermansky-Pudlak Syndrome to a district meeting of Latin American Lions Clubs from Orlando, Davenport, Kissimmee and Osceola, Florida. Creer is a member of the Osceola Lions Club that sponsored the meeting. Creer shared information about HPS, about his wife Janet’s experiences as an HPS’er and lung transplant recipient, and about what the Network does to support those with HPS. The presentation yielded an invitation to speak to medical students in the future.

For the first time, a special session was planned at the 2012 conference to allow those with the digestive complications of HPS to meet and get to know one another. The session was not scientific (although bowel issues were addressed during the science sessions on Sunday). “This was a session that was suggested by one of our members,” says Heather Kirkwood, HPS Network VP and member of the conference planning committee, “He pointed out that at conference, it’s sometimes hard to tell who else experiences the bowel complications of HPS so that you can share experiences. After all, it isn’t always the sort of thing you talk about with just anyone.” Approximately 20 HPS’ers and family members attended the session. They shared stories and experiences, as well as discussed ways to help advocate for more research into the bowel complications of HPS. It was decided that attendees with bowel disease would be asked to stand up at the same time during the science session to visually show how

It looks like the Boston Hermansky-Pudlak Syndrome picnic was a hit!

This is a little song Candice and Crystal came up with while we were killing time waiting for the exhibit hall at ATS to open. Ashley joins them in singing. They were a huge hit! 

More pics from the 19th Annual HPS Conference - Sorry folks, I love posting a few throughout the year because it makes me look forward to the next conference! 

Heather Alvey, family and friends, will have a table at “Friday After Five”, an event that takes place every Friday night during the summer in Owensboro, Ky. The group plans to set up a table on May 25th and hopes to do additional Friday evenings through the summer.  They will be selling bracelets made out of pop tops, flower pens, lanyards and jewelry. The fundraiser will help support the 2nd Chediak-Higashi Syndrome Conference. 

Heather Alvey and her family sold crafts at the Daviess County Fish & Game Easter Celebration to support funding for the Second Chediak-Higashi Syndrome Conference. The conference will bring together families impacted by Chediak-Higashi Syndrome, as well as researchers working to find better treatments for the syndrome.  Alvey’s two adult sons are affected by the syndrome.  CHS is a rare type of albinism that involves low vision, immune deficiency, a bleeding disorder, and in older teens and adults, neurological complications. The syndrome is exceedingly rare.  The Chediak-Higashi Syndrome Association currently operates as an affiliate of the Hermansky-Pudlak Syndrome Network. CHS and HPS are both syndromes that involve albinism, a bleeding disorder and other health-related complications. 

It’s been several years now since a film crew from Discovery Health visited Karen Tillman and her family and filmed her HPS story for Mystery Diagnosis. Yet, years later, the episode is still doing outreach and touching people who had no idea they were affected by the syndrome.  It has been aired in markets across the United States on the Discovery Health Channel, and then the OWN Network. It’s been picked up in a variety of overseas markets and dubbed into several languages. And now, it has been a featured video by YouTube! The YouTube video alone has now surpassed 150,000 views and it keeps growing.  So far, the HPS Network office is unaware of a version dubbed into Spanish. If anyone sees the episode air in Spanish, please let the office know where, what time and on what network. 

The documentary RARE, about the Hermansky-Pudlak Syndrome type of albinism and the quest for better treatments, will make its European debut at the CANNES 2012 Festival Market in Cannes, France on May 23rd. The film will be screened at Palais D at 10am. It is hoped the documentary will find a European distributor.  To learn more about the film, visit: http://medethicsfilms.stanford.edu/films/rare.html

Donna Appell, President of the HPS Network, and Brenda Lopez, a member of the HPS Network, met with New York State Assemblyman Felix Ortiz to discuss the needs of the HPS community and the Enhanced Healthcare Proxy. Assemblyman Ortiz is originally from Puerto Rico and has a strong interest in issues of concern to the Puerto Rican community. He represents New York District 51 in Brooklyn. Assemblyman Ortiz listened to information about the HPS and the work of the Network. He also agreed to support the Enhanced Healthcare Proxy bill. 

El Diario , a New York City Spanish language newspaper, published a short story about the documentary RARE in its May 12 th edition. The paper is planning a larger story about Hermansky-Pudlak Syndrome in a future edition. Stay tuned for more information. 

I saw this quiz this morning, and I had to share! It tests your knowledge about the uninsured. I very, very rarely speak on this blog about my own political views. I do this intentionally because, while this is my PERSONAL blog, I don't want anyone to ever be confused about what's my personal view of the world, and what is the HPS Network's policy. We need to be in this fight for the cure with a unified voice, and so I forgo voicing my own politics in an effort to keep readers focused on the goal - the cure.  That being said, for many of us living with HPS, HUGE medical bills are a way of life. One thing that makes living with a chronic illness like HPS different than many other types of illness is that for many of us with HPS, the "sick tax" never ends. I'm not going to get better than I am now. If anything, I'm going to get worse. Since the age of 19 I've had monthly medical bills that at their best, and with employer coverage, were never once less

We've added a new HPS'er to the HPS patient registry. Now, we've got 96 more HPS'ers to find on this year's Hundred People Search! 

Tommy got some awesome pics from our trip into the city after the conference. It means so much to spend time with HPS'ers. Now that I'm so involved with organizing the conference, it's really one of the only times I get to just hang out! A special thanks to Jackie Falco, who played tour guide for us. Now, that takes guts!

 We are always trying to figure out how to make our conference more low vision friendly. One problem when you don't see well is you can't see the person across the room talking. Our dream team young adult technology crew came up with the idea of using a camera to film the person talking, and throw it up on the wall larger. It worked okay - needs some tweaking. They are so clever!   Attendees in the "Family Album" circle Saturday morning.   Dr. Ishii from Japan. He comes with Kyoko, who has HPS and leads the HPS group in Japan.   And a little dancing......  These photos are totally out of order - and I didn't take this one - I think Christian, Mervin's brother, did. It's off of the patio of the Appell apartment in Manhattan.  A view from our walking around the city in NYC. 

Nell is the story of a young woman who lived in the back woods of North Carolina. She had grown up with her mother, a partially paralyzed woman and the only other human being (besides a deceased sister) Nell had ever known. When authorities learn the mother had died, they found Nell. After so many years of isolation, Nell had developed her own language. Two doctors with differing ideas of how to best help Nell set out to learn about her and try to protect her from exploitation. The story is very hear twarming. It’s a family friendly film, but probably for older kids. There is some nudity, but it isn’t sexual. The film was released in 1994 and stars Jodie Foster. I’m not sure if the plot is based on a true story or not. If anyone knows, I’d love to find out. A quick Google search only yielded links about the film its self. I give it a five out of five spoons on the spo onworthy scale – grin!

The documentary RARE will be screened at the Seattle Science Festival on June 4th! We'd really love it if anyone would turn out for the event and the discussion afterwards. It doesn't matter if you have Hermansky-Pudlak Syndrome! Grin! Here's a link for more info:  http://seattlesciencefestival.org/icalrepeat.detail/2012/06/04/996/rare-a-mother-s-quest-to-find-a-treatment-for-her-daughter-s-rare-genetic-disease

We've added two new HPS'ers to the HPS patient registry. This means we've added three new HPS'ers since conference and have 97 left to find towards next year's Hundred People Search - H.P.S. 

It's now old news that we won Best Feature Film at the Brooklyn Girl Film Festival - but today the actual award arrived in the Network mail. Good job everyone! 

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Mervin Hernandez and Ashley Appell showed off their skin at the 89th Annual Dermatologic Society of the Greater New York Conference in April. The conference was held at the Grand Hyatt Hotel in New York City.  Various hotel rooms contained patients, each modeling a different medical disorder affecting the skin. Mervin wore a medical gown and Ashley wore shorts and a t-shirt to expose their bruises for the crowd. Conference organizers said the Hermansky-Pudlak Syndrome patients were one of the most popular and well attended rooms.  Mervin took along his iPad and  showed the doctors photos of HPS platelets as well as medical information about the syndrome. 

The Hermansky-Pudlak Syndrome Network exhibited at the 16 th Annual National Hispanic Medical Association Conference, April 26-29 th , in Washington DC. HPS Network board member Hilda Cardona manned the booth at the event. “It was a great opportunity to talk to doctors, medical professors, medical residents and medical students, “says Cardona, “They were from all over the Hispanic world. Many had never heard of HPS, so I think our time there was well spent.” 

The Hermansky-Pudlak Syndrome Network exhibited at the Current Issues in GI and Liver Disease 2012 Symposium, held at the Feinstein Institute for Medical Research at North Shore University Hospital. The event was hosted by the Digestive Disease Institute, Division of Gastroenterology, Hepatology and Nutrition. HPS Network President Donna Appell and Ashley Appell manned the exhibit table. “It was a chance for us to meet and network with a number of gastroenterologists,” says Donna Appell, “We came away with a number of speaking engagements which, we hope, will help us spread the word about the GI involvement of HPS.” 

Are you in the NYC area? Don't miss a chance to see a screening of the documentary RARE about the Hermansky-Pudlak Syndrome type of albinism. The film will be part of the film festival at Bronx Week! Check it out at noon, May 13th at Bruckner Bar and Grill, 1 Bruckner Blvd. You'll need tickets, but you can get them for free at:  http:bronxweekfilmfestival.com /bronx-week-film-festival/ tickets

 Kyoko, Waleska and Kyoko's doctor, Dr. Ishii - Kyoko is an HPS'er from Japan. She's come to our conference for several years now. The language barrier is huge, but it just goes to show how much it means to spend time with people like you, especially when you're so rare and can sometimes feel so isolated. Waleska comes to the conference from Switzerland.   The HPS gang visiting Ground Zero in NYC.   It's our friend Yeidyly! Yeidyly is one of those HPS'ers that is a perfect example of how those with HPS can look very different. We aren't all blonde!   The HPS gang at Ground Zero Part of the gang posing for the group photo at conference!  These photos came from a variety of HPS'ers. Sadly, I got them a little mixed up and am not sure who's is who's. The photo credits certainly are not mine!