Living on the frontlines

The Indian Genetic Disease Database (IGDD), run by the Indian Institute of Chemical Biology, is willing to offer free genetic testing and accommodations to people with albinism in India, or those in the region able to travel to the Institute. The genetic testing will not only help those with albinism learn what type affects them, but it will also help to further research about albinism in India. Patients will also receive genetic counseling. Those in India unable to travel to the Institute may still obtain genetic testing if they ban together. The Institute is willing to send a team to collect samples if five or more people with albinism in the same place wish to be tested. The Institute is also able to test for known HPS genes. Electron Microscope screening for HPS may also be available. For more information, contact Siddharth Sawhney at: USA: 1 302.781.1010 x 701266 UK: +44.870.850.3512 x 701266 ssawhney3@csc.com India Cell: +91 9810076568.

Put it on your calendar now! Our HPS parent call the first week of December will be about "Higher Bowel Awareness: Coping with the Crohn's of Hermansky-Pudlak Syndrome." This will not be a session with medical professionals. Rather, we'll have a panel of HPS'ers living with bowel disease to answer questions from HPS parents, supporters, spouses, partners or friends. This is NOT a call for those with HPS. It's a chance for our supporters to ask questions they might not want to ask in front of us. What have you ever wanted to know about living with bowel disease or about living with an ostomy? All questions are fair game for our panel of poopologists. The English language call will be 8:30 eastern time on Tuesday Dec. 6th and the Spanish language call will be at 7:30 eastern time on Wednesday Dec. 7th. Information about how to call in will follow.

This week we added two new HPS'ers to the HPS patient registry! This puts us at 81 more to find on this year's Hundred People Search. An interesting reminder came up this week. If your the parent of a child with HPS, and you've registered with the Network, should you have a second child with HPS, please remember to register that child as well. Keep up all the great work!

It’s just around the corner! Time to eat lots and lots of turkey and cranberry, stuffing and pie, and then sink into a nice big, comfy chair, unfasten your pants, and moan softly in total Thanksgiving bliss. It’s time to watch football and parades on TV, express our gratitude for the important things in our lives, and share those memorable family stories. It can also be a time to capture valuable information about your family’s health history. Family lore isn’t just important to help us understand our families and where we’ve come from; it can also be a valuable preventative health tool. Don’t let such a golden opportunity slip away. While the family is recovering from that second piece of pumpkin pie, take a little time to ask relatives questions about what they remember about relatives that have gone before us. Record the information as clues that could help your doctor make a future diagnosis that could save you, your children, or future generations. Here’s a Website that offers...

This came into my e-mail today. I know many of you have questions about the iPhone. Note that if you don't live in New York City and can't attend in person, they are recording the event and you can see it online later. SAVE THE DATE Wednesday, November 30, 2011 The Computer Center for Visually Impaired People (CCVIP) at Baruch College Invites You to an Interactive Presentation Entitled The Ins and Outs of the iPhone 4S Times: 2:00-4:00pm or 6:00-8:00pm **Please note that the times for the afternoon session have changed** Where: Baruch College 55 Lexington Avenue, Room 14-270 Use the 25th St entrance between Lexington Ave. and 3rd Ave. What: Have you been hearing all about the latest model of the iPhone? Are you wondering if this is the device for you? Join us as we look at all the features available in the new iPhone 4S. We will introduce you to Siri, the iPhone’s ne...

Friday was doctor day. I am so blessed to have an awesome doctor! I needed to get in to see someone because I have an upcoming trip. I wanted to be sure all of my prescriptions were in order and current. I’m not the only one who loves my doctor. His other patients must love him too as it can be rather hard to get an appointment. When I called, he didn’t have any openings until late December. I took what I could get and honestly, cringed at the thought of starting from square zero with some poor new doctor. When this happens, I almost feel like I should apologize for landing in their unsuspecting lap. In a 15 minute appointment with a new doctor, the conversation usually starts out something like, “Hermansky what? How do you spell that?” I then produce an HPS brochure that is usually gratefully received. It makes me smile to myself as they eagerly read it over as Donna and I wrote that brochure. But, I never say anything about my HPS Network involvement, at least not usually from ...

This is another press release I'm passing along to any readers who might be interested, or know kids who might be interested. Honestly, I haven't blogged about braille in some time. I should probably revisit that subject. Sadly, it seems to bring up so many emotions for everyone. It feels like their are two camps in the low vision world about braille - either everyone should learn it, or no one should unless their vision is super, super crappy. It's very sad that this is the current state of things. But, today is a very busy day. I'll have to revisit the politics of braille some other time. For now, one way to encourage kids to learn braille is to make it "cool" and to provide them with materials they want to read. A letter from Santa is a great way to promote braille literacy among little kids. Here's the info: FOR IMMEDIATE RELEASE CONTACT: Chris Danielsen Director of Public Relations National Federation of the Blind (410) 659-9314,...

I ran across this today and thought I'd pass it along. This foundation has three different scholarship programs with different timelines. They offer scholarships to students between seventh grade and juniors in high school. They offer a program for students transitioning from a two-year to a four-year school. They also have a graduate student program. These scholarships are based on financial need. They take into account the cost of living where you live and any extra-ordinary family financial stress such as medical expenses. Check it out at: http://www.jkcf.org/scholarships/undergraduate-transfer-scholarships/

Supporters of the Hermansky-Pudlak Syndrome Network braved a snow storm to attend the Fang-tastic Night fundraiser in Manhattan on Oct. 29th and raised more than $2,000. The event, held at Fagolini’s Restaurant, featured a dinner, open bar and raffle prizes including items such as handmade quilts, quilts from Urban Outfiters, AMC movie tickets, and year-long theater passes to the Symphony Space. Donna Appell gave a short presentation about Hermansky-Pudlak Syndrome and the work of the Network. Ashley Appell and Mervin Hernandez performed two songs for the assembled crowd. A special thanks to the event’s organizing committee and volunteers including: Fran Moore Brenda Lopez Lisa Koss Diana Rodriguez Tracy Zhen Learn more about the HPS Network at: http://www.hpsnetwork.org/ .

The good news is I’ve been sleeping better than usual. The weird news is I’ve had some pretty funky dreams lately. I wish I knew more about dream analysis. What is my sub conscious trying to tell me? Are my dreams always this strange, or is it just that I never remember them, so I’m not aware of how strange they are regularly? The other night I dreamed I was staying at Donna’s to work in the HPS Network office. Her house became infected with these bugs, sort of like large ticks. They were biting us, and no matter what we did, there were these little blood sucking bugs pinching us and making Ashley and I bleed everywhere. Oh boy – what kind of symbolism is there????? I’m almost afraid to ask! Many of my dreams have been more like memories from different points in my life. I recognize them as things that have happened. The thing is they aren’t memories of memorable things. Instead, they’re memories of the most mundane things. For example, I dreamed I was out on a dat...

This week we've added one new person to the HPS patient registry. That puts us at 83 to go on the Hundred People Search. Keep up the good work!

Washington DC-based Families USA is offering a “program locator” on their Website to help consumers find answers to their health insurance-related questions. The site offers referrals to information about Medicare, Medicaid and private health insurance programs by state. It also offers referrals to programs to help those experiencing difficulty obtaining adequate insurance coverage. Unfortunately, currently the locator does not include information for families living in Puerto Rico. To use the program locator, go to: http://www.familiesusa.org/resources/program-locator/ Note: Sorry for the smaller text size - Blogger is giving me trouble again! Grrrrrr.

It's time to start planning the next conference - get those dance shoes out and give them a little practice warm up!

The HPS Network is very, very lucky to have a musical group, "J," that has held benefit concerts for HPS for the past 10 years. They have hearts of gold. They have no family members with HPS or CHS, but they've adopted us as their cause. Every Christmas they hold a Christmas concert benefit. They've also produced two albums, the sales of which, benefit the HPS Network. This year's concert is coming up the first weekend in December. Learn all about the band, the concert, or buy the albums (iTunes, Amazon or CDs at the HPS Store) on the group's concert Website - www.jchristmas.org . Thank you "J"!!!!!!

As many of you know, I get all kinds of stuff in my e-mail. It’s one of the reasons I’m always so behind! This week I got an item that made me think back to my college days. The e-mail was about Disability History Week. I think the official week was actually last week, but am not entirely sure since I couldn’t find a date on the movement’s Web site. Perhaps it is different in different states? For the purpose of this blog entry, the actual date is not important. It’s the idea. The idea of having a “week” or a “month” for various ethnic groups and their history has been a topic of controversy. After all, why should we only remember African-American history during African-American History Month. Shouldn’t we be pushing to have history, every day, more inclusive? I think the answer to this has more to do with the times in which we live than it does with the pros and cons of the idea. The reality is the civil rights of people with disabilities have always seemed to lag behi...

Learning Ally offers scholarships to those who are legally blind, or who have a learning disability that means they benefit from reading in an audio format. The scholarship program is now open. Check it out at: http://www.learningally.org/About-Us/National-and-Local-Award-Opportunities/108/

This past week, on the whole, has been a pretty good one. Last Sunday was somewhat problematic. I had some bleeding issues again on the skin around the stoma and spent most of the day trying to keep a pouch on. Yesterday, (Friday) I had an intense headache and hit the fatigue wall big time. I don't know why, but three nights this week, even with the CPAP, I didn't sleep well. My tummy was fine. My joint pain wasn't non-existant, but it wasn't that bad. It just seemed as though I was restless somehow. These headaches seem to be more frequent. They seem to be related to pressure in my sinuses. My ears and teeth will hurt, and my ears will pop. It feels like someone is squeezing my head. When I get them, even if I can manage to concentrate despite the headache, I find working on the computer more difficult. It makes me queasy and makes the pain worse.

The HPS Network has joined with other patient advocacy groups and bio-research organizations to thank Congressman Denny Rehberg for his support of the National Institutes of Health (NIH) and for adding a $1 billion increase of NIH’s budget in the Labor Health and Human Services, Education and Related Agencies draft funding bill. The bill also allows the Cures Acceleration Network (CAN) to start its work to find cures for disease faster. Visit the HPS Network at: http://www.hpsnetwork.org/ .

It's time for the annual Braille Readers are Leaders contest. I'm just passing along for anyone who is interested. Greetings Federationists, It’s time to start reading! The reading period for the annual Braille Readers Are Leaders contest begins November 1. If you haven't had a chance to register for the contest, it’s not too late! You can register at www.nfb.org/BRAL now through the end of the contest, January 4, 2012. The contest is for both adults and youth who are independent Braille readers. There are many levels of participation, from beginning Braille readers to the more advanced. Participants read for prizes, practice, and pleasure. Whether you love the competition, or are spurred on simply because it’s a great way to promote and refine your Braille skills, this contest is for you. For more information, you can check the Web site, www.nfb.org/BRAL. There you will find all the forms and reading logs you will need to participate. You should als...

Last week the HPS community lost an icon. Carmen Munoz was one of the early members of the HPS Network. We owe her a lot. She was one of the early HPS’ers to go to the National Institutes of Health to participate in research on Hermansky-Pudlak Syndrome. She participated in the Phase II study of Pirfenidone, a drug we hope will help the pulmonary fibrosis of HPS someday. Carmen was one of those people everyone knew. She’d tell you herself that she was “loud” and very, very proud of her Puerto Rican roots. If you ever found her annoying (and we all did at times which she’d tell you herself) you quickly got over it because Carmen had a heart of gold. She’d do anything for anyone. She wanted the best for her HPS brothers and sisters. Carmen looked forward to the HPS Conference every year like a small child looks forward to Christmas morning. She attended every year, and every year was in tears when it was time to go home. She always sat in the front and championed remember...