Living on the frontlines

Researchers in the United Kingdom have discovered a new mutation on the HPS7 gene. Previously, there was only one documented patient with HPS7. The new mutation was found in a patient with albinism and a bleeding history who was not diagnosed with HPS until she was 77 years old. She did have an extensive bleeding history and a Crohn’s diagnosis. She did not have any evidence of pulmonary fibrosis.  How sad is it that this woman had so many HPS complications her entire life, yet never got an HPS diagnosis. We don’t think that type 7 causes pulmonary fibrosis, but it is not just the HPSers with gene types that cause pulmonary fibrosis who endure a lot.  I also read another medical article today about someone diagnosed with HPS type 5 at 92! Let me say that again, 92!  It is a lesson to say there are probably many people out there with HPS who are never diagnosed. It is a lesson to show that one should never use age as an exclusion for suspecting HPS. It’s also a lesso...

The Hermansky-Pudlak Syndrome Network awarded a $500 travel award to Dr. Robert Guzy. The award was made at the Respiratory Cell and Molecular Biology (RCMB) Assembly. Donna and Ashley Appell made the presentation and were able to speak briefly about HPS in front of hundreds of lung bench researchers. They not only presented Dr. Guzy the travel award, but gave him a Dare to be Rare t-shirt as well.  Dr. Guzy is currently a third-year fellow in Pulmonary and Critical Care Medicine at Washington... read more at:  https://www.hpsnetwork.org/en/news/2013-05-30/hps-network-makes-travel-award-at-ats

I want to give a shout out to the Rodriguez family. Despite being rained out last Saturday, they held a rummage sale for just three hours on Sunday and raised $240 for Hermansky-Pudlak Syndrome. If everyone on the registry just donated a dollar a week, we'd have $52,000 more a year for research. Can you imagine if just a fourth of those on the registry held a yard sale? We could make a lot of progress toward the cure with more small fundraisers like this. They DO make a difference. 

Today we added a new HPSer to the patient registry. We are now at 94 to go on this year's Hundred People Search. 

Members of the Hermansky-Pudlak Syndrome Network participated in the patient event day, organized by the Public Advisory Roundtable of the American Thoracic Society, in May. The event was held in conjunction with the ATS International Conference in Philadelphia.  The day was kicked off with an expert roundtable. Dr. Bernadette Gochuico, a pulmonologist from the National Institutes of Health, was on hand to answer questions from HPSers and their families.  “We were so excited that several HPS families attended the event,” said Donna Appell, President of the HPS Network, “We definitely had a presence at this year’s Meet the Expert Event. It’s great for the lung community to see people with HPS and their families.”  After lunch the HPS gang, all wearing their Dare to be Rare t-shirts, took up the front rows at the Breathing Better seminar. The seminar featured a variety of speakers presenting on topics of interest to all patients with lung disease.  Dr. Gail Wei...

I will explain more about this photo later. I'm just testing right now. 

The HPS Network Puerto Rico Conference will be on August 24th. Learn more about it here:  https://www.hpsnetwork.org/en/events/2013-08-24/eighth-annual-hps-network-conference-puerto-rico

I’m just back from attending the American Thoracic Society. I have lots to blog about that, but this isn’t the entry that will have a lot of commentary about the meeting. It’s working better for me to write in pieces of memory.  I have a sort of plan for my lung transplant one day. I know the transplant center at Fairfax in Virginia is HPS friendly. By that I mean they’ve been willing to take on an HPSer for lung transplant. I know I wouldn’t have to overcome the education phase about the bleeding disorder of HPS there. They’ve already learned it. My brother lives quite close so I know I’ll have a place to live within the drive zone of the center.  Mind you, I have no idea if by the time that day arrives, I’ll even be a candidate for transplant, but it makes me feel better to assume I will be, and that I have a plan.  The doctor at Fairfax is Dr. Nathan. I’ve seen him at ATS meetings and heard him talk, but never really shook his hand.  At this ATS meeting I...

I got up the nerve to look again for the book by the author I heard on the radio. I have a temporary reprieve. I couldn’t find it as an audio book, at least not yet.  It’s been a problem lately. Several of the books I want to read are not yet available commercially as audio books. I keep meaning to reinstate myself with the Library of Congress program for blind and print impaired people as they might be available there, but somehow it never gets done.  I’ve taken to not allowing myself to buy a book unless it’s an audio book these past few years. I can see well enough to read print books (with various magnifying devices) but I find the only time of day I can set aside to read is before bed. It’s the time of day when my eyes are most tired and thus reading with a CCTV or a magnifier is not only awkward, but my eyes are just too tired by then. It is one of the reasons I really do wish I had learned braille as a kid, even if I can also read print.  So today I treated ...

Today I heard another radio interview with another writer whose book sounded interesting. At first I was sure I was going to add it to my list of books I need to read, but as the interview progressed, I wasn’t so sure it was a book I should read.  Instead, it started to sound like it might fall into the same category as sad movies, which I now make it a point not to watch.  Sad movies provoke emotions that a good cry in most people would solve. I have so much pent up inside that sometimes a good cry is only opening a Pandora’s Box. It’s just too hard to put all of those emotions away again. And since they are not emotions about a specific event or tragedy at a specific point in time from which one can heal with lots of good cries, I elect to just not watch sad movies instead.  This book is about a woman whose life goals and dreams never came to be. The author read the first few paragraphs of the book and I was wowed! It was a rant about her frustration that life ha...

Brenda Lopez, representing the HPS Network, attended Guarde La Fecha: Conferencia de Salud y Bienestar de El Bronx at Fordham University in April. The event offered a wide variety of seminars on various health topics and attracted the read more:  

Some of the HPSers have been having a conversation lately about the state of research. We are an impatient group. You can’t blame us. We’re watching our friends grow sicker, need lung transplants etc. We have an ever growing younger generation as people get diagnosed earlier and earlier, and we want them to have a future better than ours.  Yet research seems to move so slow. We are all a bit sad that currently there is no clinical trial on the horizon.  Sometimes it’s a matter of perception. When the drug trial was underway HPSers were in and out of the NIH all the time. They would share about their trips and there was a tangible feeling that things were happening.  Now, things are happening, but we don’t hear about them as often. We hear about them at conference for a day. I know (because I’m on the board) that there’s more afoot than even was shared at conference, but was so preliminary, it wasn’t appropriate to share in a public setting with patients. The thing ...

This morning I heard an interview with an author on the radio. Apparently, he’s quite famous, although I hadn’t heard of him. I guess I haven’t had as much time lately to be very well read. Or, I’ve had a lack of variety in my reading. He was very funny in the interview, and when he read some from his latest book, it did make me want to look it up and buy it.  Somehow, however, it left me feeling frustrated. As I said on a previous post, I feel like my writing has gone downhill. I’m out of practice, and writing does involve some sort of secret brain muscle that if not exercised, gets flabby.  All morning I’ve been thinking about those short stories I’ve wanted to write. The plots remain very undeveloped. They are just a general idea – like a twinkle in a parent’s eye years before a baby is born. I don’t want to give away the concept. Without saying too much, I want them to illustrate some of the lessons I’ve learned living with HPS. They won’t be about HPS but perhaps i...

Busy day! We just added another HPSer to the patient registry. This puts us at 95 to go on this year's Hundred People Search. 

The Hermansky-Pudlak Syndrome Network (HPS Network) was one of four rare disease patient advocacy groups to partner with the Whitehead Institute for its celebration of Rare Disease Day on Feb. 28th, the International Rare Disease Day Forum.  Carmen Camacho and Frankie Feliciano attended the event and held a screening of the documentary RARE.  Read more  https://www.hpsnetwork.org/en/news/2013-05-03/whitehead-institute-and-hps-network-celebrate-rare-disease-day

Yeida Soto, a member of the HPS Network, partnered with the nursing program at Central Connecticut State University to hold a screening of the documentary RARE. The documentary follows the HPS Network through a phase III clinical trial to try to find a treatment for the pulmonary fibrosis of Hermansky-Pudlak Syndrome. Read more

We have added a new HPSer to the patient registry. This puts us at 96 to go on this year's Hundred People Search. Great job everyone! Keep up the great outreach! 

Oyster Bay, N.Y. – The Hermansky-Pudlak Syndrome Network (HPS Network) and the American Thoracic Society Foundation have partnered to offer a two-year research grant studying the pulmonary fibrosis of Hermansky-Pudlak Syndrome.  Funding will be awarded to the application with the highest likelihood of improving treatments for HPS patients.  Applications are encouraged from read more here

I have always had a problem with achieving balance in my life. I always, and have always, had more to do than I could ever get done. I can’t remember the last time I ever had the sense of having everything finished. Honestly, I’m not sure achieving that would be a good thing for me.  Always feeling like there’s something left to do motivates me to get out of bed in the morning. It keeps me going when I feel blue. The trick is not getting overwhelmed. I haven’t quite mastered that trick yet!  I have a family member that is forever asking me, “Don’t you get bored?” How could I possibly get bored! I get tired. I get so I don’t feel like doing anything more – but I don’t get bored. There are simply too many things I want to do!  What a blessing!  The balance, however, is the thing that makes me struggle. Since I was small, there has been this work ethic instilled in me. You don’t play until the work is finished. Yet, is the work ever finished? NO it is NOT! Grow...