There are certain times of year that I associate with certain HPS-related events in my life, and this is one of them. It was four years ago about this time when I figured out what having Hermansky-Pudlak Syndrome could mean long term. Sometimes I tell my diagnosis story in an abbreviated way because it’s too complicated for most five-minute presentations – but I consider my HPS diagnosis date to be the first week in August, 2002.
The truth is I was first told I had Hermansky-Pudlak Syndrome when I had my colon removed in February, 1993. It was hardly much of a diagnosis. I’d call it a lucky, yet uninformed, guess. My blood work before the surgery showed clotting times twice what they should be. Before undergoing such a major surgery, my mother insisted that a hematologist be brought in and this anomaly explained. So, a hematologist was summoned, scratched his head, and disappeared into the hospital’s medical library for a day. (This was before the Internet made looking everything up so easy.) He finally emerged with a name “Hermansky-Pudlak Syndrome.”
To be honest, I’m not sure what he read, or what he really knew. We were told that HPS was “a minor bleeding disorder” and not to worry. I later learned my mother was told I’d probably bleed out during the surgery and to make arrangements because I probably wouldn’t survive. Surgery was a last-ditch effort because I was already bleeding so badly, and wasn’t expected to live until the end of the week if they did nothing. At the time, however, I was told that with a blood platelet transfusion, everything would be fine. And it was. I had no bleeding complications during that surgery, or a second surgery I had to have a week later – thanks to the platelets.
No mention was made, however, that Hermansky-Pudlak Syndrome had anything to do with albinism, or was likely the cause of my colitis that never responded to treatment. Nor was I told anything about possible lung complications, or the importance of getting flu shots and staying clear of any and all toxins, like cigarette smoke (which I did anyway because I don’t like the smell.)
Life went on with my “minor bleeding disorder” until about this time four years ago.
I always have horrible spring allergies, but that year was particularly severe. I developed a sinus infection that wouldn’t go away. It was so bad that I was coughing all the time, having trouble breathing, and missing tons of work – something that never happened to me before.
My office was just across the street from a family medicine clinic – what I now call a “doc in the box” sort of place. I went back repeatedly, but was told that I had a virus (maybe I did) and that I’d just have to be patient and let it run its course. Yeah, try telling that to your boss after missing almost two weeks of work!
A nurse friend of mine took me to see another doctor that she knew. I dutifully filled out the medical history form and wrote down the term “Hermansky-Pudlak Syndrome.”
After giving me some scripts for my sinuses, the new doctor asked me a barrage of questions about HPS. I didn’t know the answers. Imagine that – I’m a journalist but I’d never spent as much time researching HPS as I would for the average run-of-the-mill news story.
So, feeling kind of dumb, I went back to the office and plugged “Hermansky-Pudlak Syndrome” into a search engine.
What I found was mortifying.
I read the abstracts of medical paper after medical paper becoming more and more upset because each contained the words “typically fatal in the third to fourth decade.”
Thinking that perhaps my mother had known this all along and was somehow trying to protect me from the truth, I called home to Germany. My mother didn’t know and became distraught. She called her sister, my Aunt Sheryl, who got on the Web and did some research of her own.
She called me back at work to tell me about this patient group she’d found – the HPS Network. She had called and talked to Donna Appell, and gave me the number.
I didn’t waste any time at all. I found an empty office for some privacy and called her immediately. Donna did wonders for my anxiety. She told me about NIH and gave me the number for Dr. William Gahl. Again, I didn’t waste a moment. I had an appointment to travel to Bethesda, Md. by the next day.
It would be August before NIH could see me, however, and so I spent an agonizing summer of waiting. It turned out my platelets had never been viewed under an electron microscope – so I didn’t even really know if I really had HPS.
That was a terrible summer.
One day I watched the movie “Lorenso’s Oil,” a movie I’d seen years before. I was inspired. (I later got to meet some of the real-life people portrayed in the movie, and there was more to the story, of course.) I decided that I was no more dumb or brilliant than this other family, neither of whom had a medical or scientific background – yet they had managed to find a treatment for their son by becoming experts on his disease and pushing the researchers. So, I started reading. I read everything – every single medical paper I could get my hands on.
I spent hours that summer sitting in the coffee shop near my house combing through medical papers with a magnifier and armed with a medical dictionary. Reading these papers was like translating a foreign language.
I attended high school overseas and hung out with a lot of foreign students while in college. Not wanting to leave any stone unturned, I enlisted my friends from around the world to do medical paper searches in the languages they spoke, in hopes of finding anywhere else in the world doing research on HPS. I had people searching in Chinese, German, Russian, Spanish and so on.
As I found various doctors whose names started appearing in more than one place, I tracked them down and called them for advice. Where in the world was the “best” research happening on HPS? I talked to doctors in Germany and even in China. All roads lead back to Dr. William Gahl at the National Institutes of Health. I remember exchanging e-mails with a pulmonogist in Austria who was trying to organize a consortium in Europe to research rare lung diseases. “HPS is so rare here,” he said, “No one’s that interested because they could never get enough patients to do a study.” But, he knew of Dr. Gahl and assured me he was the go-to guy.
I actually believe that the doctor in Austria was wrong about HPS in Europe. I think HPS is going undiagnosed more often than we realize in Europe and around the world because no one knows about it – and if they do they think it only happens to people from Puerto Rico.
While that exercise armed me with a ton of information to ask the right questions, what I’ve learned since is that it takes a long time to get a medical paper published. Reading the literature isn’t always the cutting edge of information because people publish papers on what they learned yesterday, not what they’re learning today.
Perhaps the hardest part of that summer was the response of some family and friends. In an attempt to be reassuring, they tried to tell me that all this worrying wasn’t useful – that I probably didn’t have HPS – that I should quit reading because it was scaring me – and that I was being a “drama queen.”
The problem is the more educated I became about HPS, the more certain I was that I had it. As I read the papers, it was as if someone was describing my own life to me. Perhaps even more difficult is that while I learned that not all forms of HPS develop all the various complications – I also learned enough to make a very educated guess about which type of HPS I had.
There were many long and teary nights that summer when I felt completely helpless and alone.
(Part two coming soon)
The truth is I was first told I had Hermansky-Pudlak Syndrome when I had my colon removed in February, 1993. It was hardly much of a diagnosis. I’d call it a lucky, yet uninformed, guess. My blood work before the surgery showed clotting times twice what they should be. Before undergoing such a major surgery, my mother insisted that a hematologist be brought in and this anomaly explained. So, a hematologist was summoned, scratched his head, and disappeared into the hospital’s medical library for a day. (This was before the Internet made looking everything up so easy.) He finally emerged with a name “Hermansky-Pudlak Syndrome.”
To be honest, I’m not sure what he read, or what he really knew. We were told that HPS was “a minor bleeding disorder” and not to worry. I later learned my mother was told I’d probably bleed out during the surgery and to make arrangements because I probably wouldn’t survive. Surgery was a last-ditch effort because I was already bleeding so badly, and wasn’t expected to live until the end of the week if they did nothing. At the time, however, I was told that with a blood platelet transfusion, everything would be fine. And it was. I had no bleeding complications during that surgery, or a second surgery I had to have a week later – thanks to the platelets.
No mention was made, however, that Hermansky-Pudlak Syndrome had anything to do with albinism, or was likely the cause of my colitis that never responded to treatment. Nor was I told anything about possible lung complications, or the importance of getting flu shots and staying clear of any and all toxins, like cigarette smoke (which I did anyway because I don’t like the smell.)
Life went on with my “minor bleeding disorder” until about this time four years ago.
I always have horrible spring allergies, but that year was particularly severe. I developed a sinus infection that wouldn’t go away. It was so bad that I was coughing all the time, having trouble breathing, and missing tons of work – something that never happened to me before.
My office was just across the street from a family medicine clinic – what I now call a “doc in the box” sort of place. I went back repeatedly, but was told that I had a virus (maybe I did) and that I’d just have to be patient and let it run its course. Yeah, try telling that to your boss after missing almost two weeks of work!
A nurse friend of mine took me to see another doctor that she knew. I dutifully filled out the medical history form and wrote down the term “Hermansky-Pudlak Syndrome.”
After giving me some scripts for my sinuses, the new doctor asked me a barrage of questions about HPS. I didn’t know the answers. Imagine that – I’m a journalist but I’d never spent as much time researching HPS as I would for the average run-of-the-mill news story.
So, feeling kind of dumb, I went back to the office and plugged “Hermansky-Pudlak Syndrome” into a search engine.
What I found was mortifying.
I read the abstracts of medical paper after medical paper becoming more and more upset because each contained the words “typically fatal in the third to fourth decade.”
Thinking that perhaps my mother had known this all along and was somehow trying to protect me from the truth, I called home to Germany. My mother didn’t know and became distraught. She called her sister, my Aunt Sheryl, who got on the Web and did some research of her own.
She called me back at work to tell me about this patient group she’d found – the HPS Network. She had called and talked to Donna Appell, and gave me the number.
I didn’t waste any time at all. I found an empty office for some privacy and called her immediately. Donna did wonders for my anxiety. She told me about NIH and gave me the number for Dr. William Gahl. Again, I didn’t waste a moment. I had an appointment to travel to Bethesda, Md. by the next day.
It would be August before NIH could see me, however, and so I spent an agonizing summer of waiting. It turned out my platelets had never been viewed under an electron microscope – so I didn’t even really know if I really had HPS.
That was a terrible summer.
One day I watched the movie “Lorenso’s Oil,” a movie I’d seen years before. I was inspired. (I later got to meet some of the real-life people portrayed in the movie, and there was more to the story, of course.) I decided that I was no more dumb or brilliant than this other family, neither of whom had a medical or scientific background – yet they had managed to find a treatment for their son by becoming experts on his disease and pushing the researchers. So, I started reading. I read everything – every single medical paper I could get my hands on.
I spent hours that summer sitting in the coffee shop near my house combing through medical papers with a magnifier and armed with a medical dictionary. Reading these papers was like translating a foreign language.
I attended high school overseas and hung out with a lot of foreign students while in college. Not wanting to leave any stone unturned, I enlisted my friends from around the world to do medical paper searches in the languages they spoke, in hopes of finding anywhere else in the world doing research on HPS. I had people searching in Chinese, German, Russian, Spanish and so on.
As I found various doctors whose names started appearing in more than one place, I tracked them down and called them for advice. Where in the world was the “best” research happening on HPS? I talked to doctors in Germany and even in China. All roads lead back to Dr. William Gahl at the National Institutes of Health. I remember exchanging e-mails with a pulmonogist in Austria who was trying to organize a consortium in Europe to research rare lung diseases. “HPS is so rare here,” he said, “No one’s that interested because they could never get enough patients to do a study.” But, he knew of Dr. Gahl and assured me he was the go-to guy.
I actually believe that the doctor in Austria was wrong about HPS in Europe. I think HPS is going undiagnosed more often than we realize in Europe and around the world because no one knows about it – and if they do they think it only happens to people from Puerto Rico.
While that exercise armed me with a ton of information to ask the right questions, what I’ve learned since is that it takes a long time to get a medical paper published. Reading the literature isn’t always the cutting edge of information because people publish papers on what they learned yesterday, not what they’re learning today.
Perhaps the hardest part of that summer was the response of some family and friends. In an attempt to be reassuring, they tried to tell me that all this worrying wasn’t useful – that I probably didn’t have HPS – that I should quit reading because it was scaring me – and that I was being a “drama queen.”
The problem is the more educated I became about HPS, the more certain I was that I had it. As I read the papers, it was as if someone was describing my own life to me. Perhaps even more difficult is that while I learned that not all forms of HPS develop all the various complications – I also learned enough to make a very educated guess about which type of HPS I had.
There were many long and teary nights that summer when I felt completely helpless and alone.
(Part two coming soon)
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