Living on the frontlines

The United States Senate has passed a resolution honoring Rare Disease Day. If you'd like to read it, check it out here: http://www.rarediseases.org/pdf/Rare-Disease-Day-Resolution.pdf

A friend of mine recently said she missed my movie reviews. I miss posting them. I don’t get to watch many movies these days, and when I do I typically don’t have much time afterward to write about it. Still, there are times when no matter how busy you are, you reach a kind of wall and have to step back to clear your head. It was in one of those moments I found a little television series I’ve fallen in love with – Little Men. Unfortunately, it seems it only ran two years. I guess no one else was as taken with it as I am, having discovered it 10 years plus after it ran. I don’t even remember ever seeing it on television back then. How could that be? The series takes place in the 1800s in Concord, Mass. It’s the follow up to the book Little Women by Louisa May Alcott. The girls are all grown up and Jo, recently widowed, is running a school in the big house left to her by her aunt. I’ve been to the home where Alcott wrote these books. It looks similar to the ho...

Liliana Mangiafico plans to spend 2011 running marathons to raise money for the Hermansky-Pudlak Syndrome Network. So far, she’s run one race and raised $160, but her goal for the year is $2,000. Mangiafico is an attorney for Advocates, a non-profit in the Boston area. She is a co-worker of HPS’er Carman Camacho, and through Carmen, got to know the stories of many people with HPS. She has helped several HPS families apply for social security benefits. Mangiafico was especially touched by the stories of those trying to obtain lung transplants. “I can't imagine what it is to live with the fear my lungs will stop working. That is how I thought that through my races and using my lungs hard to honor those who have lost the fight and the assist those waiting for a transplant I could help,” says Mangiafico. She hopes to raise money to help HPS research so that someday, HPS’ers will no longer need lung transplants. Her fundraiser Website is: http://www.imathlete.com/donate/SLi...

One of the members of the HPS Network passed this along. I'm posting here just in case any readers are interested. Heather, This is time sensitive, so please read, call Perkins for more info, or post, but it sounds like a wonderful opportunity for young folks to travel free to Israel this June! I know sounds to good to be true, but Perkins is partnering, so it may be a great opportunity. Fran Just got this from Perkins School for the Blind: No Limits: Seeing Possibilities - June 2011 Perkins, Canada Israel Experience, and Amazing Israel, announce a unique Taglit-Birthright Israel trip for June 2011. No Limits: Seeing Possibilities is a trip that has been specially designed for participants with visual impairments. This FREE trip is open to young adults who are blind or visually impaired, high school graduates between the ages of 18 to 26, and of all Jewish backgrounds. Experience all of Israel-from the lush north to the desert oasis's in the south. Enjoy the exc...

I know I promised I'd try to post more first-person, thoughtful posts. I meant it. I want to blog more. The trouble is this year's conference is probably the most complex conference we've organized to date. It's taking a lot of time. Honestly, when I get a little down time, I'm having a hard time being enthusiastic about sitting in front of the computer. Instead, I want to paint. I'm experimenting a lot with style - and have been for the last year. I love the French Impressionists. I want to loosen up a bit and use some of the vibrant colors they do. I'm not sure I'm 100 percent happy with the results so far, but hey, it takes time to perfect these things. These are two paintings I've done since Christmas.

Are you in the Chicago area? Want to stand up and be counted for albinism, Hermansky-Pudlak Syndrome or Chediak-Higashi Syndrome (or any other rare disorder)? Check out this special event: Lundbeck Inc. is hosting a Rare Disease Day Media Rally Event Date: 2/28/2011 Location: NBC5 Plaza, Michigan Ave Chicago, IL Join us downtown for a made-for-TV media event to bring much-needed attention to rare diseases in the Chicagoland area. We are inviting local rare disease organizations to put on their group’s apparel and join us for a media rally on the NBC5 Plaza at 5:45am to demonstrate the reach of rare diseases in our community. This local effort is being spearheaded by Lundbeck Inc. as part of its Raise Your Hand to Fight Rare Diseases campaign. Contact us before February 15 so we can include your logo on the event banner. RSVP to ctuj@lundbeck.com

Stand up and be counted! Let the world know there are people out there with Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome, or even in a diagnositc limbo land. Make a short video telling something about yourself, your disorder and your life. NORD is collecting these videos to help publicize Rare Disease Day. It's a chance to bring some attention to HPS, CHS and our "diagnosic limbo" folks. Also, NORD gets a $10 donation for every video submitted! If you make a video, please also share it with the HPS Network! http://rarediseaseday.us/take-action-now/video-project/

The National Organization for Rare Disorders is an unbrella organization serving people and organizations for those with rare diseases (affecting fewer than 200,000 Americans.) About one in 10, or 30 million Americans, has a rare disorder. They currently have a matching grant. If you go to this Web site, and click where it says "Raise Your Hand" they will get a dollar donation. Help spread the word - it just takes a second to click. You don't have to fill out any forms or give your e-mail, or any of that. Thanks! http://rarediseaseday.us/

Softball carnival to be held to benefit teen in need of lung transplant Moca, Puerto Rico - A softball carnival will be held Sunday Feb. 6th from 9:00 am to 9:00 pm at Parque del Barrio Plata en Moca, to benefit Juleiny Jiménez, a 17-year-old teen from Moca who is in critical need of a lung transplant. Because lung transplants are not available in Puerto Rico, she and her family will have to travel to the United States for the procedure. Juleiny has a genetic condition called Hermansky-Pudlak Syndrome. The condition causes albinism, low vision, a bleeding disorder and in her gene type, a progressive and fatal lung disease called pulmonary fibrosis. Juleiny has developed the lung disease of HPS at an exceptionally young age. The hospitals in the US have already done a successful lung transplant in a patient with this genetic disorder. Insurance doesn’t usually cover many of the expenses associated with a lung transplant. Juleiny and her family will have to temporarily move...

This week we lost another member of the HPS community, Maria M. Maria was waiting for a lung and kidney transplant. She fought very hard to have a shot at living, even undergoing invasive procedures like a kidney biopsy, just for the chance to be listed for new organs. Maria’s health was complicated. She had more obstacles than the average person to get listed for a transplant. Yet, she never took no for an answer. With every new obstacle, she pushed onward towards her goal. Maria did make the transplant list for both a lung and a kidney, but like so many others waiting for organs, they never came in time. Maria was a cherished friend of many in the HPS Network. We all loved her for her steadfast determination and her wonderful sense of humor. Maria was always looking out for her HPS friends. She handed out HPS Network brochures to her doctors and to the student doctors as she sat in the hospital waiting for her new organs. She gladly participated in r...