Living on the frontlines

Recently I saw this on the Facebook page of a friend who has another chronic illness (not HPS). Man, it hit home. I've heard them all, and they're all hurtful. You might have to click on the image to make it big enough to read.

Ashley Appell and Mervin Hernandez, otherwise known as “Sax in the City” performed at the 23 rd Annual Congressional Gala to support the Children’s Inn at NIH. The event was a food extravaganza and was called “A Recipe for Giving.” The duo, accompanied by Hermansky-Pudlak Syndrome Network President Donna Appell, represented patients who have benefited from the Children’s Inn and its programs. The Children’s Inn provides pediatric patients and their families coming to the National Institutes of Health a kid-friendly place to stay if they don’t need to stay in the hospital. Ashley Appell has been staying at the Children’s Inn since she was six years old. Proceeds from the event, held at Union Station in October, are being used to refurbish the kitchen facilities at the Children’s Inn.

Ashley Appell and Mervin Hernandez, otherwise known as the sax and singing duo “Sax in the City” will be performing at a special concert to celebrate Rare Disease Day at the Albert Einstein School of Medicine. The concert, “Rare People and Rare Talents on a Rare Day” will feature a number of performers, all of whom have a rare medical condition. The concert will be held Wednesday, Feb. 29 th from 4:30 pm to 6:00 pm in the lobby of the Van Etten Building. Light refreshments will also be served. For more information, contact: Sukhi Lee at (718) 430-3787. A map of the campus can be found at: http://www.einstein.yu.edu/home/map.asp

Below is a tribute to Elsie I wrote on behalf of the HPS Network for Elsie's service. As so many that wanted to be there in person could not, I thought I'd share it here. Here is what I wrote: It is not necessary to tell the people gathered here that Elsie was special. Anyone who met her knew that about her. Anyone who knew her, knew how rare she really was. We, in the Hermansky-Pudlak Syndrome community, knew Elise because of the gene we shared with her. We loved her, however, because of the person she was – a kind and generous soul who was able to look beyond her own circumstances and use her own situation to find a way to help us all. For those who may not know what Hermansky-Pudlak Syndrome is, let us explain so that you might understand Elsie better. Hermansky-Pudlak Syndrome, or HPS, is a rare form of albinism. Only a little more than a 1,000 people are documented to have it in the entire world. At the same time, it is one of the most common ...

This came across my e-mail today and thought I'd just pass it along: Students Charting Their Own Course Into Scientific Exploration July 25-29, 2012* In 2012, the National Center for Blind Youth in Science (NCBYS), a program of the National Federation of the Blind Jernigan Institute, is introducing an exciting science program for students ages 7-11 and 14-18 called NFB Project Innovation. This pioneer program will focus on fostering a sense of innovation and autonomy in young students by allowing them to determine their course of study during the week of the program. Students will ultimately focus on one investigation which they will showcase at the Innovators Expo. However, multiple branches of science will be explored throughout the program through extension activities. A unique component of NFB Project Innovation is how it will serve two unique age groups simultaneously. The first of these two groups will be comprised of students in grades 3-6 (ages 7-11)...

Yeida, a member of the HPS Network, is collecting used electronics to be turned into cash for the HPS Network. A collection site will again be available this year at conference. We can accept: cell phones, inkjet cartridges, toner cartridges, digital cameras, ipods and mp3 players, laptops and tablets broken or working (cartridges need to be empty). Look for the collection box in the registration area.

Carmen Camacho, a board member of the HPS Network, and Yara Nunez gave a presentation about Hermansky-Pudlak Syndrome at a meeting of the Massachusetts Commission for the Blind in honor of Rare Disease Day. Counselors at agencies serving the blind and visually impaired are in a unique position to encounter people with this syndrome, many of whom may have never heard about HPS. Left untreated, HPS could affect one’s ability to achieve vocational goals. The duo presented about the syndrome, their personal experiences, and the HPS Network’s “Presentation in a Bag,” a tool to empower members to educate their communities about HPS. “Presentation in a Bag” includes a ready-made PowerPoint, large print note cards, brochures and a reporting sheet to share information with the Network for possible future grants. The training for “Presentation in a Bag” takes less than an hour and can be done at the HPS Conference, or via appointment online.

It's been a busy week at the HPS Network. We've added nine new HPS'ers to the patient registry. This means we have 68 to go on this year's Hundred People Search.

I have a Hundred People Search update! We are very behind where we usually are for the year. Part of this is because we always pick up new members at the Puerto Rico conference, and there was a kind of glitch this year. This week, however, we have added three new people with HPS to the registry. This puts us at 77 left to go before conference.

The HPS Network is a proud sponsor of The Gordon Research Conference Seminar on Lysosomes and Endocytosis, to be held June 17-22 at the Proctor Academy in Andover, NH. The conference is by invitation and brings together scientists, students, industry and government. This year’s overall conference is being organized by Nobel Prize winner Christian de Duve. The seminar on lysosomes and endocytosis will be held a day before the greater conference. It will give researchers interested in this field a chance to discuss and exchange ideas about the latest findings in the field. Among the invited speakers, Graca Raposo, Victor Faundez and Judith Klumperman will be speaking about protein complexes, some of which do not function correctly in various forms of HPS. In addition to the speakers, attendees are encouraged to present posters on their work. Lysosomes are compartments within a cell that process waste. Problems with the functioning of these cellular compartments are believed to...

Here's the info on Elsie's memorial service for anyone who might like to go. The service is Sunday Feb 12 at 2pm at 6000 East Colonial, Orlando, Florida 32817.

Last night I spoke with Elsie’s husband and he had some things he wanted me to pass along to all of you. He wanted to say how grateful he was for the support of the HPS community. He wanted to say thanks to all of you for all that you meant to his wife. Mingo wants you all to know that he wants to continue to be a part of the HPS community. He considers us extended family, and he doesn’t want us to fall away because Elsie is no longer with us. He wants to find a way to be involved with the Network to do something to help find better treatments and someday, the cure, in honor of Elsie. Elsie wanted to be cremated, so that’s what is being done. The family is meeting today to start to plan a memorial service, but it might not take place for a little while. Mingo wants to move his family back to Orlando as soon as possible where they have the support of family and friends. He wants you all to know how much Elsie loved her HPS family, and how much he loves all of you too. ...

Saturday my friend Elsie got her angel wings. Heaven is just too crowded with HPS’ers. Elsie and I considered ourselves sisters by choice. We were diagnosed about the same time. We started with the HPS Network about the same time. Elsie joins her older brother Benny in heaven. Benny passed away from HPS several years ago. Elsie was a trail blazer in the HPS community. She was the first person to volunteer for the phase III drug trial of Pirfenidone to treat the pulmonary fibrosis of HPS. She was the first patient to be accepted into the study. She was the first person to raise money for her transplant with the help of the HPS Network (a new program). Elsie’s brother had tried to get listed for a lung transplant, but at that time transplant centers were leery of even evaluating patients with HPS. Elsie was one of the first to benefit from the ground work laid by the first group of HPS transplant patients. I know how much she appreciated the guidance she received about the t...

Photo of HPS'ers from last year, from left to right: Maria G (she is very sick right now with pulmonary fiborsis), Carmen C., Emilio, Rebecca (had a successful lung transplant more than a year ago) and Maria M (passed away a year ago today.) Today is a sad anniversary. It was a year ago today that our friend Maria M. passed away from complications of Hermansky-Pudlak Syndrome. She needed both new lungs and a new kidney. They never came in time. Right now is a very difficult time for the HPS community. Sadly, we just lost one of our young adults, and we have several other HPS’ers who are quite ill. It’s hard during times like these to keep pressing ahead. It’s hard not to be swallowed up in sadness and grief. I keep trying to tell myself, however, that for me, the best thing I can do to honor the memory of the friends I’ve lost with HPS is not to let their memories be forgotten. The best way to do that is to work on the goal we all had and have in common – to find ...

This link was passed along to me by my friend Linda. I hope it makes you smile. It's about a hamburger chain in South Africa that made braille hamburgers to advertise their new braille menus. Ironically, the video about the braille menus is all photos and video set to music, so most braille readers won't get much out of it. Still, it's cute (and a cute idea - I'm thinking baked gifts.) http://www.youtube.com/watch?v=5YAchE0-o-o&feature=youtu.be

Yesterday another HPS’er got her angel wings. Shylia was so young. She was only in her early 20s. It’s unusual for someone with Hermansky-Pudlak Syndrome to develop the lung disease at such an early age, but it does happen. Shylia was unable to get a lung transplant, despite trying in both Florida and New York. She was such a beautiful girl. I only had the honor of meeting her once during the NOAH Adult Day a few years ago in Orlando. Please pray for her, and for her family. It is such a tragic loss. In this photo Elsie is on the left, and Shylia is on the right. I tried to fix the red eye, but can't seem to get it completely out.