Guest guest Posted August 3, 2009 Report Share Posted August 3, 2009 Jerry, Do you mind if I be the nosy one and ask, what is the cause of your legal blindness? I've been very lucky indeed. I'm quite involved with the research. This is going to sound corny, but soon after I was diagnosed with HPS, I saw the movie Lorenso's Oil on TV. (Since then I've met the real people involved with that, and it was nothing like the movie - surprise, surprise). HPS is so rare, and there are so few people working on it. Often there's one researcher in one lab in one corner of the world working on one thing, and another in another corner of the world working on something else - and they don't even know the other exists. I decided I wasn't any dumber or smarter than Lorenso's family and that maybe I could be of more help to the "cause" sort of speak if I educated myself. I started reading every paper I could find on HPS. I read everything I could find on lysosomal storage disorders (sp?) - HPS falls under this. I spent long hours with a medical dictionary looking up everything I didn't understand, bit by bit. I was a journalist and had no medical background. It has helped, although the more you learn the more you understand just how little you know. I'm now the VP of the HPS Network and work very closely with our scientific advisory board. I attend medical meetings whenever possible, both to educate about HPS and PF, and to learn. This year I've been to the American Society of Human Genetics, American Thoracic Society, Digestive Disease Week and the International Society on Thrombosis and Hemastatis (sp?) (Sorry, I can't spell----grin!) We've also done noon conferences and grand rounds at a number of hospitals this summer and more planned for this fall. I feel so lucky to be able to be so involved. My brother, 32, also has HPS. So far his lungs aren't affected, but as everyone with our gene gets PF 100 percent of the time, it will happen and can happen at any time. I have that added motivation in the hunt for the cure. I'm also in a clinical trial at the National Institutes of Health for PF and feel very lucky to have that opportunity as well. What's the saying from the Sound of Music.....when God shuts a door he opens a window......something like that. Hermansky-Pudlak Syndrome 02 / PF o6 Personal blog: www.heatherkirkwood.blogspot.com > > > Subject: Hello to the newbies!> To: Breathe-Support > Date: Monday, August 3, 2009, 4:41 AM> > > > > > > > I've been lurking lately and just thought I'd say hello. > My name is . I'm 36 years old and live in Kansas City. I have PF due to Hermansky-Pudlak Syndrome, a rare type of albinism. HPS also includes a bleeding disorder, legal blindness and in my case a Crohn's-like digestive problem. > I had to leave work last Oct, but it wasn't so much my lungs, well, it's complicated. I was just missing too much work for medical crap. > I am in a drug trial for Pirfenidone at the National Institutes of Health. I now do freelance projects when I can (I was a journalist for 10 years) and I am the VP of the Hermansky-Pudlak Syndrome Network. > I always knew I had albinism, but didn't figure out I had HPS until I was 29 - then developed PF at 33. > Welcome to the group to all of you. You'll find a lot nice folks here and good info. > > Personal blog www.heatherkirkwood .blogspot. com> Hermansky-Pudlak Syndrome albinism 02 / PF 06> > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 4, 2009 Report Share Posted August 4, 2009 , I read your post with a lot of interest and even more admiration for someone I had never met. You have that unquinchable thirst to know. I am so very glad to have met you. Our real heroes begin from within that innermost circle of friends and family before branching out. I have been legally blind since birth. Starting from when I was a smallchild, Mom and Dad saw to it that I saw every eye specialist in and around Mississippi. None of them wanted to remove my cataracts because of corneal vascularization, which they feared would worsen if disturbed. It wasn't until I was in college when the cataracts became really dense that surgery was performed. Dr. Delmar Caldwell came from Bailor to the University Medical Center in MS. He was, and still is, one of the best corneologists in the world. He did the surgery on both eyes and also performed a transplant on the left eye. Although I am legally blind, I see better now than I ever did as a child. I seldom thiink about my poor vision (as is certainly the case with you). I love to ride a bike, and I still ride. That may give you an idea of how well I see. Oh yes, after I had been to Tulane University for almost 3 years, I decided to see where Dr. Caldwell was practicing. You couldn't tell, but I paused for effect. Dr. Caldwell is practicing on that very same 7th floor where I see Dr. Lasky every few months. His days for being in the clinic are not the same as Dr. Lasky's, but I hope to see him before too long. I attended the Mississippi School F/T Blind in and got my degree in Business Management from Mississippi State. Now that I have finished my education, I find that really I have only begun. Now you have my curiousity up; I'll have to get busy on the internet and find out more about HPS. I have swapped cookies with just about every medical website on the internet looking for the newest PF information. I have thought many times how useful the internet has been for me. Without it, I most likely would never have found all that information about NIH trials that led me to Tulane University. We are right where we need to be to have the best chance for the best medical treatment. Everything is at our fingertips. I once told Dr. Lasky that asside from being a not-so-good disease, Pulmonary Fibrosis was one of the most interestings and fascinating things I had ever come across. I have almost made a game out of seeing how long I can live this good life, which of course means staying informed to the max, not only about PF, but all the other disciplines that cross paths with PF. Pretty soon I will post something on Osteopenia and Osteoperosis. We really have to deal with that reguardless. Then there is Pulmonary Hypertension, to make another branch from the main trunk. Incidently, Bruce and Beth and others do such a very good job of keeping us informed. And there you are jumping in with both feet, and I so Iook forward to your posts as well. Some of my friends use JAWS and other adaptive softwear for blind and visually impaired. I also have a Scrabble friend who is totally blind. We play with a brailled board and tiles. Even when I win, the victory isn't moral: She memorizes the whole board as tiles are laid down. I look away and the board disappears to my mind. She also plays a Yahama keyboard, which has, besides the keyboard, 162 other accessable controls, and she uses them with ease as she plays. You are forever in my short book of inspirational people. I'll turn in for the night and hope you get even stronger in every way. Jerry/Mississippi/54/IPF/dx April 05Who believes that hard times help us appreciate the good times even more. Subject: legal blindnessTo: Breathe-Support Date: Tuesday, August 4, 2009, 5:13 AM Jerry, Do you mind if I be the nosy one and ask, what is the cause of your legal blindness? I've been very lucky indeed. I'm quite involved with the research. This is going to sound corny, but soon after I was diagnosed with HPS, I saw the movie Lorenso's Oil on TV. (Since then I've met the real people involved with that, and it was nothing like the movie - surprise, surprise). HPS is so rare, and there are so few people working on it. Often there's one researcher in one lab in one corner of the world working on one thing, and another in another corner of the world working on something else - and they don't even know the other exists. I decided I wasn't any dumber or smarter than Lorenso's family and that maybe I could be of more help to the "cause" sort of speak if I educated myself. I started reading every paper I could find on HPS. I read everything I could find on lysosomal storage disorders (sp?) - HPS falls under this. I spent long hours with a medical dictionary looking up everything I didn't understand, bit by bit. I was a journalist and had no medical background. It has helped, although the more you learn the more you understand just how little you know. I'm now the VP of the HPS Network and work very closely with our scientific advisory board. I attend medical meetings whenever possible, both to educate about HPS and PF, and to learn. This year I've been to the American Society of Human Genetics, American Thoracic Society, Digestive Disease Week and the International Society on Thrombosis and Hemastatis (sp?) (Sorry, I can't spell----grin! ) We've also done noon conferences and grand rounds at a number of hospitals this summer and more planned for this fall. I feel so lucky to be able to be so involved. My brother, 32, also has HPS. So far his lungs aren't affected, but as everyone with our gene gets PF 100 percent of the time, it will happen and can happen at any time. I have that added motivation in the hunt for the cure. I'm also in a clinical trial at the National Institutes of Health for PF and feel very lucky to have that opportunity as well. What's the saying from the Sound of Music.....when God shuts a door he opens a window...... something like that. Hermansky-Pudlak Syndrome 02 / PF o6 Personal blog: www.heatherkirkwood .blogspot. com > > > Subject: Hello to the newbies!> To: Breathe-Support@ yahoogroups. com> Date: Monday, August 3, 2009, 4:41 AM> > > > > > > > I've been lurking lately and just thought I'd say hello. > My name is . I'm 36 years old and live in Kansas City. I have PF due to Hermansky-Pudlak Syndrome, a rare type of albinism. HPS also includes a bleeding disorder, legal blindness and in my case a Crohn's-like digestive problem. > I had to leave work last Oct, but it wasn't so much my lungs, well, it's complicated. I was just missing too much work for medical crap. > I am in a drug trial for Pirfenidone at the National Institutes of Health. I now do freelance projects when I can (I was a journalist for 10 years) and I am the VP of the Hermansky-Pudlak Syndrome Network. > I always knew I had albinism, but didn't figure out I had HPS until I was 29 - then developed PF at 33. > Welcome to the group to all of you. You'll find a lot nice folks here and good info. > > Personal blog www.heatherkirkwood .blogspot. com> Hermansky-Pudlak Syndrome albinism 02 / PF 06> > Quote Link to comment Share on other sites More sharing options...
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