Re: legal blindness

[Guest guest]

the next time lorenzo's oil comes on, i will have to watch it

don't remember if i ever saw it

is it about someone with HPS?

Pink Joyce R (IPF 3/06) IFA 5/09 Pennsylvania

Donate Life Listed 1/09 Inactive 4/09

www.transplantfund.org---

Subject: legal blindnessTo: Breathe-Support Date: Tuesday, August 4, 2009, 1:13 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> >