Living on the frontlines

The HPS Network will exhibit at the National Association of Parents of the Visually Impaired Conference, July 27 th – 29 th in Boston. 

The HPS Network will attend the National Organization for Albinism and Hypopigmentation (NOAH) Conference, to be held July 12 th – 15 th at the Millennium Hotel in St. Louis, Mo. 

This is a video of our HPS friend singing. We will all miss her so much!

The American Thoracic Society (ATS), in partnership with the HPS Network, hosted a Webinar on Hermansky-Pudlak Syndrome entitled: The Genetics and Clinical Spectrum of Hermansky-Pudlak Syndrome. The Webinar presentation was given by Bernadette Gochuico, MD, attending pulmonologist at the National Human Genome Research Institute, National Institutes of Health. To view the slides and audio from the Webinar, visit: http://patients.thoracic.org/lung-disease-week/rare-lung-disease-2012/webinar.php The Webinar was given as part of Rare Lung Disease Week at the American Thoracic Society. 

The HPS Community has lost yet another treasured member to the Hermansky-Pudlak type of albinism - Sandra Quinones. Sandra lived in Puerto Rico, but relocated to Boston about a year ago to try to get a lung transplant. Sadly, the lung transplant didn’t happen. Sandra was finally listed, but only for a few days before she became too ill. Sandra had an infectious personality. She was always smiling, always happy and always just bubbling with enthusiasm. She had a beautiful singing voice and a very strong faith in God. She was not only an advocate for HPS, but she was a proud wife and mother of a seven-year-old boy and a 13-year-old girl. Sandra was only just barely 39 years old.  Sandra generously shared the details of her transplant experience in hopes that others could learn from her. She also generously allowed the NIH to take tissue from her body to help further research on HPS in hopes of one day finding better treatments, and even someday, a cure. We will all

The Hermansky-Pudlak Syndrome Network has partnered with the Community Assistance Program to offer a medication discount card to members, their family and friends. The discount card can be used at 80 percent of pharmacies across the country including Walgreens, CVS, RiteAid, Target, Walmart and many others. The card is NOT medical insurance. Instead, it offers discounts on medications for those who either do not have drug coverage, or who have gaps in their medical drug coverage. For example, if a drug is not in your insurance formulary, if you must meet a large deductable before coverage becomes effective, or if you’re in the Medicare donut hole, the discount card may be useful to save money. The card can be used by anyone, whether they have HPS or not. It can also be used over and over again.  Even pet medications can be purchased with the card. Every time the card is used, 75 cents will be donated to the HPS Network. Cards were mailed out to the HPS Network members

All of these people have HPS, and all of them have had a lung transplant! While success would be never needing a transplant, when I was first diagnosed no one with HPS could even get listed. What a victory! 

The HPS Network participated in the Mount Sinai Community Health Fair in the middle of August. “We made some great connections,” says Donna Appell, HPS Network President and Founder. Mervin Hernandez was able to obtain an autograph on a Dare to be Rare t-shirt from Magic Johnson, the well-known basketball player. The shirt will be used at a future fundraiser. Ashley Appell, Ana Guzman and Desire Guzman also attended the event and helped out at the booth. 

Join us for an HPS picnic in New York City! The picnic will be June 24 th , 11:00 am, at Riverside Park at 103 rd Street. Please bring a food or beverage item to share! For more information, contact Letty Colonio at: coloniol58@gmail.com.  

We tried something new this year, an orientation session going over the various sessions that would be offered during the weekend. Next year we're thinking about a hotel tour! Things are a bit spread out at the hotel. 

It's Blanca, Lilly and Carmen! Lilly is a social worker with the Jewish Guild for the Blind. She runs the HPS parent support calls that the Jewish Guild has a grant for...and she's awesome! If you're the parent of an HPS'er, child or adult, check out the monthly calls! 

Here's a pic of one of my latest knitting projects. I knitted a bunch of scarves for the HPS Network. For now, I'm planning on selling these for the Heather-needs-to-pay-off-the-University of Kansas Hospital fund. Grin! After that it's the Heather-is-in-the-Medicare-doghnut-hole fund. The hat is for an adult and the scarf is 4 ft. 3 inches long. It's acrylic yard and the knit is pretty thin, so I'd say for fall, not sub zero temps. 

The American Thoracic Society, as part of their Rare Lung Disease Awareness Week, is holding a Webinar on HPS on April 24th. It's free and the presenter will be Dr. Gochuico, our pulmo at the NIH. This is a great opportunity to learn more about the genetics of HPS, as well as the lung disease of HPS. It's also EXTREMELY helpful for HPS awareness to have a good patient turn out for the Webinar. And, if you haven't been able to make it to conference, or you want your docs to better understand HPS - it's also a great resource.  You MUST pre-register for the Webinar. If you don't want to listen to the audio over your computer, you can do it on the phone as well.  The link to register is: https://www1.gotomeeting.com/register/701032361  You will get a confirmation e-mail. You MUST save this e-mail as the link for you to log on that day is unique to you. Don't share it with others or it won't work correctly.  Hope to "hear" you on the Webinar!!!

People arriving and meeting up after a year of not seeing one another!  HPS craft sales table

It's World Allergy Week! Although we don't believe the two are related, I have horrible allergies. They certainly don't do my other health concerns any favors! We tend to think of allergies as being a "minor" problem. I guess that's because the usual medications work so well for most people. For me, however, I take three to four allergy meds all the time, and when things are bad (like this time of year) even that doesn't cut it. So, thought I'd share the following press release. It has some interesting allergy statistics.  EMBARGOED FOR RELEASE UNTIL 16 APRIL 2012   NEWS RELEASE   16 April 2012  Contact:   Sofia Dorsano, sdorsano@worldallergy.org Note to media: See www.worldallergy.org/worldallergyweek   Complexity of allergic disease impacts patient quality of life  World Allergy Organization calls for integrated approaches to patient care as the global burden of allergic  diseases and asthma continues to rise to epidemic proportions MI

Many of you in HPSland will know Sandra. She's attended conferences in both the US and Puerto Rico. This year she moved to Boston with her husband and two children in hopes of qualifying for a lung transplant. She very much needs to get on the list. Part of getting on the list is showing you have the capacity to raise money for uncovered needs. If you're able, please help Sandra. Here is her fundraising page:  http://www.firstgiving.com/fundraiser/carmencamacho/sandraquinonesungs

Breakfast at the hospitality suite. In the middle is Manuel and his wife, who were representing the HPS Network Puerto Rico. 

It's that time of year again. Time to kick off the Hundred People Search - HPS! This week we added one new HPS'er to the patient registry. We've got 99 to by next March! Grin! We don't want to leave anyone behind! 

Recently I’ve taken up a new hobby – knitting. It’s thanks to the wonderful suggestion of another HPS friend, Claire.  Honestly, repetitive tasks that don’t require much thought have never really been of much interest to me. But lately, I find that very thing incredibly soothing. You can do it anywhere – unlike my painting hobbies. You can take it to a waiting room while you wait for the doctor, or carry it with you on a trip and do it on an airplane. Soon I hope to post some photos of some of the things I’ve knitted.  Perhaps it’s anxiety that makes a repeating task so soothing. It makes it easier to focus when I’m reading an audio book or watching a movie. I’ve never been a person with lots of anxiety, but the last few years I must admit, it’s been more of an issue. I think living with HPS just does that. How could it not? 

It’s been a long time since I’ve posted a health update. It’s not entirely because everything has been okay. It’s more that I’ve just been so busy with more important things.  Sometimes when you have a chronic health condition, it’s hard to “update.” When I go to the doctor and he asks how I’m doing, I sometimes wonder about how best to answer. The right answer might be “I’m good” or “I’m fine” – but I hate to answer that way because it makes it seem as though nothing is happening on a regular basis. Perhaps the better answer is  - status quo.  In February and March I’ve had much worse asthma symptoms than I think I remember having in a long time. It’s usual for things to get worse in the Spring. I’m very allergic to grass and to pretty much anything that is green and grows (it seems).  My asthma isn’t like the asthma of others I’ve known without HPS that share this issue. I don’t have “attacks” exactly. It’s more like I start coughing more than usual. I get short of breath easi

The HPS Network has gone into the t-shirt business! The Network has created the Dare to be Rare line of t-shirts to both help promote the documentary RARE, and to raise money to support the work of the Network. The t-shirts are branded separately from the HPS Network in hopes of increasing the marketing reach of the shirts.  It’s the hope of the Network to encourage people to celebrate what makes them unique, whether it be a rare medical condition or a special talent. The shirts can be purchased at www.daretoberare.org. 

Monday I was interviewed about Hermansky-Pudlak Syndrome and the film RARE by Fox 4 News. I'll blog more about that later, but here is the link:  http://fox4kc.com/2012/04/10/woman-educates-others-about-being-rare/

I saw this on the twitter feed today. It's a great opportunity for Latinas ages 13 to 25 who might be interested in journalism. Check it out:  http://www.surveymonkey.com/s/8WBTJCT

Below is a video we created at the Hermansky-Pudlak Syndrome conference. The Enhanced Healthcare Proxy is a project of the HPS Network. Many of us with HPS have a lot of doctors in different places. It's possible to want someone to help you make medical decisions, or help you deal with insurance, or pharmacies etc. but still be completely capable of making your own medical decisions. Yes, you can waivers etc. - but honestly, it's a real pain. There's a need for something between guardianship and a health care proxy that only comes into effect when you've lost the capacity to make decisions.  In my case, if my support system has to wait until I've lost capacity to be able to talk to my doctors and be informed - it's too late! HPS is complicated sometimes. I take a lot of meds every day. It's too much to come into and be truly informed only when things are bad!  Often remedies involve legal fees that many in our community simply can't afford. (Thankful

The Hermansky-Pudlak Syndrome Network will be participating in the Mount Sinai Community Health Fair on April 14 th between 11:00 am and 3:00 pm. Magic Johnson will be a special guest at the event. The event will also include free screenings for blood pressure, cholesterol, diabetes, hepatitis C, vision and more. There will also be entertainment and food, raffles, prizes, a yoga session, live DJ, a bounce house for the kids and more. The event is located on East 102 nd Street between 5 th and Madison Ave. Take the 6 train to East 103 rd or the M2, M3, or M4 buses to East 102 nd Street.

The documentary RARE, produced by Dr. Maren Grainger-Monsen and Nicole Newnham, was awarded Best Feature Film at the Brooklyn Girl Film Festival, held March 29 th to 31 st . The documentary follows the HPS Network through the process of a phase III clinical trial of an investigational drug to treat the pulmonary fibrosis of Hermansky-Pudlak Syndrome. The Brooklyn Girl Film Festival showcases the work of women film makers from around the world. Several members of the HPS Network attended the screening of the film, as well as the award ceremony. Learn more about the festival by visiting: http://034f903.netsolhost.com/WordPress/

One of the myths about Hermansky-Pudlak Syndrome is that it’s a Puerto Rican disorder, thus, if you’ve got albinism, but you’re not Puerto Rican, you don’t need to worry. Wrong. While HPS is one of the most common genetic disorders among people of Puerto Rican ancestry, (and thus people with albinism of Puerto Rican ancestry have a much greater chance of having the HPS type of albinism), it doesn’t just occur in Puerto Ricans. I’ve blogged many times in the past about the wide diversity of ethnic backgrounds in the HPS community, even if most do have Puerto Rican backgrounds. We have members all over the world. Today I was going through medical journal articles on HPS from the last year, and it just reminded me that’s a point we should make again. In the past few months we’ve added two new members of Chinese background. Today I saw a medical paper in a dermatology journal about a study done of 52 people with albinism from China. While most had another type of albinism, one did tes

 Christie got to count all of the jellybeans in the guess the jellybean jar. Lucky her!  This year we were filming several short promotional pieces and advertisements. We also took some promotional photos. Here's the young adult gang setting up their "studio." They did such an awesome job. Stay tuned.....

Nancy and Rebecca - two of our lung transplant heroes. 

This past weekend was a particularly good one in the land of HPS. We had so many good things happening around the country. Our New York City crowd (and Emilio from CT) attended the screening of RARE at the Brooklyn Girl Film Festival. They all wore our new t-shirts and I understand we sold some as well. We were over the moon that RARE won first place in its category!!!! What an honor! On top of that, while the folks in NYC were working on RARE, the folks in North Carolina were raising money. The Tillman crew had yet another successful Human Race! Way to go NC!!!! And, if all that weren’t great – I got to be a proud University of Kansas alum and root for my team! Rock Chawk Jayhawk – Go KU! 

The Hermansky-Pudlak Syndrome Network honored the National Organization for Albinism and Hypopigmentation (NOAH) with the World of Difference award at the 19th Annual HPS Network Conference.  NOAH serves people with all types of albinism and their families through informational resources, promoting positive attitudes about albinism and providing many venues for fellowship and support.  NOAH has been a loyal supporter of the HPS Network conference, as well as the HPS Network, for many years. The HPS Network conference serves families affected by the HPS types of albinism. These types of albinism not only involve decreased pigmentation and decreased visual acuity, but they also involve a bleeding disorder. Some types of HPS also involve other health issues such as digestive and lung disease. NOAH’s support helps the HPS Network address the unique needs of those with the HPS types of albinism.  NOAH Executive Director Michael McGowan was at the event to accept the award on behalf