|
May 2008 - Posts
-
 This photo is of the Breathing Better event hosted by the Public Advisory Roundtable of the American Thoracic Society - the photo was taken by the show's official photographer.On Saturday, before the “guts” of the American Thoracic Society conference got underway, the ATS Public Advisory Roundtable held a special forum for patients. The theme of this year’s forum was pulmonary rehabilitation. It’s a topic that all people with lung diseases can benefit from – and it’s unfortunately a topic that many of us remain woefully uneducated about.
Donna Appell, the HPS Network President and Founder, is also currently the President of PAR for the ATS and thus was responsible for organizing this event. It had a wonderful turnout.
Karen and I were a bit late to the event because our flights didn’t get in until around noon. But, I learned a lot from the part I was able to attend.
I think the most important thing I learned was that being out of breath is really okay. I don’t mean the sort of out of breath that we all get when we have a good workout. I mean that sort of out of breath you get when you just can’t seem to recover or to catch a good breath. I am grateful to be able to say that this happens to me far less frequently than it did a few years ago, but it does still happen (today in fact.)
I have a tendency to not push myself as hard as maybe I should when I’m exercising because I’ve always assumed that getting to that point couldn’t be good for you. But, apparently, as long as you know that you’re oxygen levels are okay etc. this isn’t really doing anything to hurt you. It’s okay to push yourself a bit. It might even be good for you.
Many patients are never offered pulmonary rehabilitation or they’re only given the option when their lung capacity is already quite compromised. Unfortunately, in the United States, many insurance plans won’t cover pulmonary rehabilitation.
But, according to the experts that presented, patients can benefit greatly from a formal pulmonary rehabilitation program even when they still have quite a bit of lung function remaining. They learn skills to cope and to stay healthy as that lung function decreases.
And just in case I needed someone to hit me over the head yet again, there were a number of presentations illustrating how exercise really does improve quality of life and survival rates. I felt like standing up and shouting – okay, I get it already! I need to get off my fat (^(*^%(.
One of the respiratory therapists that spoke talked about the vicious cycle many lung patients find themselves in – they begin to get out of breath with day-to-day activities so they cut back. They gradually stop leaving home as often and remaining more sedentary because they can’t breath. That, in turn, causes muscles to become weak and the breathing problems to actually get worse. It’s a downward spiral. Unfortunately, for some of the lung diseases we face, that spiral, at least for now, might be inevitable. But that doesn’t mean you can’t fight it off as long as you can! And for those seeking transplants someday, time is a valuable weapon.
|
-
-
 This is a pic taken by ATS's official photographer. Here the doctors are coming and going from meetings. It really is a big meeting!
|
-
Here's a pic of Ryan with his girlfriend Sarah. I got to meet Sarah when I was at NIH. She was very nice. I'm very glad Ryan has found such a nice girl! Grin! They've been going out several months now, so we'll see what happens. They seem to fit together very well.
|
-
 When Lisa volunteered for a lung lavage for research, it meant that she had to go to NIH on her birthday. Ryan's girlfriend Sarah brought a birthday cake darecorated with little chocolate chips. We saved a peice for Dr. Markello who was staying late to do my sleep study. He quipped, "Oh look, it's got dense bodies." (Referring to the way Donna explains HPS platelets.)
|
-
|
Happy graduation to Matt and Kathryn. Way to go! Both Matt and Kathryn have battled the GI issues of HPS while going to school. I know how hard that can be. I was also in college when my GI issues surfaced for the first time. It can be a struggle to keep up with your studies when you don’t feel well often or are often fatigued. Hats off to both of you, and best of luck entering the working world. I know you will both go on to do great things.
|
-
 One of the things I've always wanted to do with this blog is archive the stories of others with HPS. I've wanted to do this for several reasons. First off, we can learn so much from each other's stories. Second, it's a way of documenting our history. Third, these stories come in handy when doing educational sessions or outreach. They put a face on the medical facts. Ana recently wrote her story down and sent it to me. Here it is:
As a child I always had numerous bruises on my legs and arms, where I bumped into things. I burned easily in the sun, and had trouble seeing in the bright sunny days of the Caribbean Island, where I grew up, Puerto Rico. But it was not until around 1998, when I was to get the earth-shattering news that I had a disease for which there is no known cure. I learned that I had tested positive for Hermansky-Pudlak Syndrome.
My world was turned upside down as I was now the mother of a three year old daughter with no family support whatsoever. The prospect of developing the pulmonay fibrosis of HPS was almost too much to bear. Those affected by the fibrosis usually do not live past the age of 40, I was already way beyond that. Bur forge forward I must, which brings us to today, ten years later. I am still not certain whether my fibrosis has started or not.
Before being diagnosed with HPS, I had a bleeding ulcer. This was very serious, I bled for days and required hosptialization and transfusion.
My strabismus and knee surgeries were done with minimal bleeding.
In 1995, my daughter was born, for which I had a C-Section. This was a very serious episode also, the bleeding was uncontrollable for many hours, to the point where I was losing consciousness and was about to be transfused, but miraculously the bleeding subsided on it's own.
Several years ago, I had a double hernia repair, I was administered DDAVP, which did not work. Then as the bleeding continued after the surgery, I was transfused with whole blood, even though I kept telling the team of doctors that I needed a platelet tranfusion, not whole blood.
More recently, I had a lung biopsy. Platelets were administered and the surgery was uneventful.
|
-
I just wanted to send out a great big BRAVO! to Angels in Voice (Candice and Crystal) on their fundraiser last week. They gave a concert (how I wish I could have been there in person) and raised more than $2,500 for the HPS Network. Way to go! Thank you Candice and Crystal, and thank you to all of your loyal fans and supporters.
If you don’t know Angels in Voice, check out their blog at www.angelsinvoice.com. They have a new CD out by the way! And it’s awesome!
|
-
|
Mark your calendars now! The third annual HPS Family Conference Puerto Rico will be held Aug. 23 at the Coliseum Pachin Vecins in Ponce. We’ll pass along more information as we get it. Start planning to be there and hear the latest on HPS research as well as have a chance to network with other affected families.
|
-
Those of you who have been to the NIH have likely had a chance to meet some of the students working in Dr. Gahl’s lab. He usually brings them around in a hoard on Thursday mornings. They stand around and Dr. Gahl tells them all about HPS, usually throwing in a little social history about whichever of us happens to be there that day.
I love meeting the students. I’ve always loved meeting medical students. It’s one of the things I miss about not going to KUMed anymore. I miss the young and nervous medical student that always appears in the exam room first to ask me what I’m there to complain about.
I see them as the future. They’re the ones who will have a chance to be in the know about HPS for an entire career. They’re the ones who will keep this research going into the next generation.
We need to inspire these young students and let them know how much we appreciate them.
To that end, last summer (I think it was last summer) there was a particularly brilliant young woman working in Dr. Gahl’s lab. She’s got a regular collection of honors and awards and this week she happened to pop up on my google alerts. She was interviewed for MIT’s blog and talked some about her work in Dr. Gahl’s lab. So, of course, I had to leave a comment. Grin!
And, if any of you should feel so moved to leave a comment for Melis, the blog is: http://www.mitadmissions.org/topics/pulse/mits_mission_who_we_are/the_one_and_only_melis.shtml
We need people like Melis to continue to be interested in HPS and all the wonky things our little cells get up to. Grin!
|
-
|
This article is from U.S. News and World Report.
Drug for Deadly Lung Disease Shows Promise
Idiopathic pulmonary fibrosis kills 40,000 Americans each year
Posted May 23, 2008
By E.J. MundellHealthDay Reporter
FRIDAY, May 23 (HealthDay News) -- Patients with a progressive fibrosis of the lungs that's fatal within a few years of diagnosis may finally have some reason for hope.
Related News
Japanese researchers say daily use of the drug pirfenidone improved the lung function and lengthened the survival of patients with the illness, called idiopathic pulmonary fibrosis (IPF).
"Patients look to any research in IPF with a sense of hope, because right now, there's very little that can be done for them," said Mark Shreve, founder and chief operating officer of the Coalition for Pulmonary Fibrosis, based in San Jose, Calif.
"To say that there's a desperate need -- even that would be an incredible understatement, because you are talking about a devastating, relentless disease that has a survival rate of less than three years, and no proven cause and no treatment," he said.
But the results of the new phase III clinical trial, involving 275 Japanese patients with mild-to-moderate IPF, may change all that. The findings were presented this week at the annual meeting of the American Thoracic Society, in Toronto.
According to Shreve, 128,000 Americans are battling IPF at any given time. Each year, 48,000 new cases are diagnosed, and 40,000 people die from the illness -- equal to the annual death toll from *** cancer.
IPF's origins remain largely unknown. It typically arises in late middle-age or the senior years and involves a progressive fibrosis: a process in which healthy lung tissue turns into useless scar tissue. This hardening of the lungs gradually and relentlessly robs patients of their ability to breathe.
"There's no drug, period, that's ever been approved for IPF," Shreve said. "Right now, the only treatment option that's been shown to extend the lives of patients is a lung transplant. But, other than that, the disease itself is an incredibly progressive, severe relentless disease."
That's why the results of the new trial have generated a level of cautious excitement among the IPF research community. In the study, a team led by Dr. Takashi Ogura, of Kanagawa Cardiovascular and Respiratory Center, Yokohama, gave patients either high-dose (1,800 milligrams) or low-dose (1,200 milligrams) pirfenidone or a placebo each day. Then they tracked changes in lung capacity, disease progression and patient survival over the course of a year.
Ogura's team reported that patients on high-dose pirfenidone achieved significantly less deterioration in lung capacity compared to those not on the drug. Those placed on the medication also displayed a slowdown in disease progression. Side effects included skin rash and loss of appetite.
"Taken together, our study demonstrated positive clinical effects of pirfenidone that suppresses the progress of IPF and potentially contributes to improving the outcomes of patients with IPF," Ogura said in a prepared statement.
Pirfenidone is "a drug in its own class," explained Dr. Ganesh Raghu, director of the Interstitial Lung Disease/Sarcoid/Pulmonary Fibrosis Program at the University of Washington Medical Center, in Seattle. His team pioneered the use of pirfenidone -- which is thought to have anti-inflammatory and anti-fibrotic properties -- against IPF more than a decade ago.
"It has taken this long -- 11, 12 years -- for it to reach the stage of phase III. I'm quite pleased that a drug of potential efficacy or anti-fibrotic effect is used for IPF. The Japanese trial is encouraging," said Raghu, who is also professor of pulmonary and critical care medicine at the University of Washington.
Still, he stressed that the population used in the Japanese trial may not represent the full spectrum of IPF patients, so it's too early to tell if pirfenidone will work for everyone with the disease. A larger, multi-center trial using the drug is currently under way in Europe and North America, with results expected later this year.
"Until further studies that enroll large number of patients and include all spectrum of patients with IPF, we cannot extrapolate the findings to the entire patient population with IPF," Raghu said.
He also cautioned that pirfenidone has not yet been approved for use against any medical condition by the U.S. Food and Drug Administration, meaning that IPF patients can only get the medicine by participating in a clinical trial.
And while pirfenidone may slow the progression of IPF, it does not stop it, Shreve noted.
"If this drug works out, that's fantastic, but it's still not a cure," Shreve said. "With a cure -- that's when we'll be really excited."
|
-
|
This week the 30th person in the phase III Pirfenidone trial to treat the pulmonary fibrosis of Hermansky-Pudlak Syndrome was enrolled. Yahoo!!!!! This is a big deal! We’ve been working on it for a very long time.
What does this mean? It means that the statistical clock is ticking. We still need 40 patients to complete the trial, however, we have reached the threshold at which we have enough patients to start the clock for the interim statistical analysis. At roughly 18 months, or half way through the trial, the statisticians will review the data thus far. If the patients on the drug are doing significantly better than the patients who are on the placebo, then for the next 18 months of the trial everyone will be put on the drug. That’s great news for those of us that are in the trial. It’s also great news for everyone else because it means we’re that much closer to getting the drug approved (if it works) and moving on to the next step to find the cure.
At the American Thoracic Society the doctors in Japan presented their data from their Pirfenidone trial. It was the one session I really, really wanted to see. I only got to see the last part of their presentation. Unfortunately, Karen had a bit of trouble and needed my help, so I missed their presentation. Donna assures me that she saw it and it’s all okay. “The stuff is working,” she said. But, I still would have liked to have heard the data for myself as well as any questions the doctors might have asked that I might have never thought of. Oh well – hopefully that data will be published very soon and we’ll all be able to read it.
In the meantime, continuing with the 100 people search is as critical as ever. We need to get people properly diagnosed, and we need to find the final ten patients for this trial.
|
-
|
FOR IMMEDIATE RELEASE
MAY 21, 2008For More Information Contact:Sharon Terry – sterry@geneticalliance.org or 202.966.5557 x201 Iris Maldonado – imaldonado@amplifypublicaffairs.net or 202.263.2580
President Bush Signs Landmark Genetic Nondiscrimination Information Act Into Law
Washington, D.C. – May 21, 2008 – The Coalition for Genetic Fairness (http://www.geneticfairness.org/) commends President George W. Bush for signing into law today the first civil rights legislation of the new millennium, the Genetic Information Nondiscrimination Act (GINA).
GINA is the first and only federal legislation that will provide protections against discrimination based on an individual’s genetic information in health insurance coverage and employment settings. “This is a tremendous victory for every American not born with perfect genes – which means it’s a victory for every single one us,” said Representative Louise Slaughter (D-NY).
“Since all of us are predisposed to at least a few genetic-based disorders, we are all potential victims of genetic discrimination.”“Today marks the beginning of a new era in health care,” continued Slaughter. “Americans can finally take advantage of the tremendous potential of genetic research without the fear that their own genetic information will be used against them.”
Just a few weeks ago, GINA received overwhelming support in both the Senate, with a unanimous vote of approval, and the House of Representatives, where the legislation was passed by a landslide vote of 414-1.”Individuals no longer have to worry about being discriminated against on the basis of their genetic information, and with this assurance, the promise of genetic testing and disease management and prevention can be realized more fully,” stated Sharon Terry, president of the Coalition and CEO of Genetic Alliance (http://www.geneticalliance.org/).“We applaud our champions on the Hill who have worked tirelessly to pass this important legislation. It is now our responsibility to make sure the public knows that these new protections are in place.”The health insurance protections offered by GINA are expected to roll out 12 months after the bill is signed, whereas the employment protections will be fully realized in 18 months.
“Now that GINA has been approved and signed into federal law by the President, American health care consumers and employees will no longer have to fear the adverse effects of being tested to determine their risk status for genetic diseases,” said Joann Boughman, Ph.D., executive vice president of the American Society of Human Genetics (http://www.ashg.org/) and a member of the Coalition’s executive committee. “Once this legislation has taken effect, clinicians will be able to order genetic tests for patients and their families in a manner that ensures the full realization of the advantages of personalized medicine models, while easing patients’ concerns about the risk of genetic discrimination by insurance companies and employers based on this data.” Specifically, the legislation protects against genetic discrimination by health insurers or employers by
:• Prohibiting group health plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.
• Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.
• Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and may not disclose genetic information. Similar provisions apply to employment agencies and labor organizations.
###
The Coalition for Genetic Fairness is an alliance of advocacy organizations, health professionals, and industry leaders working to educate Congressional policymakers about the importance of legal protections for genetic information and ensure passage of meaningful genetic information nondiscrimination legislation. The Coalition for Genetic Fairness is led by: Genetic Alliance, Affymetrix, American Academy of Pediatrics, The American Society of Human Genetics, Brown University, Hadassah, National Society of Genetic Counselors, and the National Workrights Institute. Coalition for Genetic Fairness • http://www.geneticfairness.org • 4301 Connecticut Ave. NW #404, Washington DC • 20008-2369 • Phone: 202.966.5557 • Fax: 202.966.8553
|
-
|
I was able to put up a few short tidbits earlier in the week because magically I was able to find a free wireless network in the hotel room. By the second day, however, the free wireless had been quashed and they wanted $20 a day to let me connect. Considering how little time we had in our hotel room, and how tired we were when we were there, it didn’t seem worth it.
So, now that I’m on the way home, I’ve got to catch up. This week myself, Donna, Karen T, Ashley and Izzy went to Toronto to participate in the meeting of the American Thoracic Society or ATS. ATS is made up of both thoracic doctors (clinicians) as well as bench researchers. It’s a great place to network to both educate the doctors about Hermansky-Pudlak Syndrome as well as hopefully facilitate moving the science its self forward. More than 16,000 doctors and scientists from around the world attended.
We had a booth on the show floor. The traffic was very good this year. Among the visitors that stand out in my mind are three pulmonologists that came by (not together) that reported having patients with HPS. There was also a doctor that came by from Mexico City who had two patients with HPS (sisters), however both recently passed away. That was discouraging. Too little, too late.
We also had a researcher stop by from a lab in Germany. She was actually of Indian background and was very intrigued with the picture we showed her of Candice, Crystal and Kathryn. She is doing research on HPS mice.
We also saw Dr. Young and Dr. Gutentag, which was a big treat. Both had posters in the poster session. Dr. Young’s poster was essentially what she presented at the HPS conference. Dr. Gutentag’s poster did have some new information on it. She explained it all to me, but I wanted to go back and study it a bit later when there wasn’t such a crowd.
I have to get so close to be able to read the posters. While I really want to learn more about the research, the fact is I’m not the one who could be in a lab somewhere actually making use of this knowledge. It just satisfies a purely intellectual need for me. Thus, I don’t want to have my big head in the way of someone who could actually take the information and do something with it. I don’t want to get in the way of the doctors talking to one another about the science, and potentially germinating new ideas. So, I get in and out as fast as I can. Grin!
Dr. Gutentag’s poster, in a very simplified nutshell, seemed to indicate that there was some sort of inflammatory signal being given off very early, earlier than had been thought before. She said she wasn’t sure why or how etc. but if further research were to show that there was something to this, it might help to develop more targeted therapies that could be given earlier in life and at least prolong the onset of lung problems. But, that’s very preliminary. It’s like putting together a giant jigsaw puzzle with thousands and thousands of pieces.
I did catch at least the last part of the session where presentations were given about drug trials underway to treat pulmonary fibrosis. The room was packed! The doctors were literally sitting on the floor, standing against the walls and falling out of the doors. I sort of muscled my way through the throng at the door (people always move for a woman with a cane) and plopped myself on the floor right in front of the big screen showing the slides. I actually prefer to sit on the floor and being able to sit so close to the screen really is a help. This way I could do it without seeming “weird.”
As the session went on, and the Pirfenidone presentation was ended, the room started to thin out. Pretty soon I was the only one left on the floor, only I didn’t realize it because I was so far to the front. When it did dawn on me, I decided to stay. Why move? This was working for me.
A number of presentations about very small trials were given. I dutifully wrote them all down and will do further research when I’m home as well as ask the docs at NIH what they think about some of these potential therapies in the pipeline.
We are in the second year of the matching grant with ATS that was awarded to Dr. Young. That meant that once again our logo was on a lot of the show signage. We also gave a modest “travel award” to help pay expenses for a researcher to attend the event and were able to make a presentation that got us more exposure.
Donna’s role as the chair of the American Thoracic Society’s Public Advisory Roundtable also has garnered us widespread exposure to this audience.
But, perhaps one of the most exciting events of the week was a presentation put on as an educational session for the doctors. In the session they presented the case of one patient (minus the name) complete with CTs, history etc. The doctors all had hand held voting devices and as the case was presented they were asked questions about what they thought, what they’d do next etc. This year the case to be presented was an HPS case. At a party last night we were able to talk to the doctor that ran this session. He told us that when asked whether to do an open lung biopsy based on the information given, that 60 percent of the doctors said they’d do it. This can be dangerous for HPS patients, especially if they are not diagnosed yet and thus no bleeding precautions are taken. Today, there are a 1,000 docs out there who now know better. Grin! It just illustrates why we need to be at meetings like this.
|
-
FOR IMMEDIATE RELEASE
May 21, 2008
Contact: Donna Appell, President and Founder of the HPS Network, 1 (800) 789-9477
HPS Network applauds signage of the Genetic Information Non-discrimination Act
Oyster Bay, NY – The HPS Network commends the passage and signing of the Genetic Information Non-Discrimination Act (GINA). GINA will allow patients with HPS, as well as millions of others with genetic disorders, to seek out diagnostic testing without fear of retribution from employers or insurance companies.
Often patients are reluctant to be tested for a predisposition for genetic disorders like HPS because they fear increased insurance premiums or being unable to get insurance at all.
For patients with HPS, not being correctly diagnosed can be dangerous. HPS is a rare form of albinism that causes legal blindness, a bleeding disorder and in some mutations digestive problems as well as pulmonary fibrosis. The bleeding disorder of HPS can easily be managed if patients and their physicians are aware of the syndrome. However, life threatening complications could develop in the event of a trauma, surgery or childbirth if appropriate precautions are not taken.
“We hope that more families will seek testing without fear thanks to the passage of GINA,” said Donna Appell, President and Founder of the HPS Network, “Patients that go undiagnosed cost the healthcare system more because of extra care needed to treat issues not caught early.”
The HPS Network has lobbied for GINA for several years.
The passage of GINA will also make it possible for more patients to participate in clinical research that will one day lead to better treatments and cures without fear.
To speak to the HPS Network about the signing of GINA, or to speak with an HPS patient, call 1 (800) 789-9477.
For more information about HPS go to www.hpsnetwork.org.
- 30 -
|
More Posts Next page »
|
|
|