The main objective of attending the American Thoracic Society meeting was to promote awareness of Hermansky-Pudlak Syndrome (HPS). It was basically an exercise in the art of schmooze, and we’re damned lucky to have Donna Appell schmoozing on our behalf.
I am constantly in awe of all that she does for HPS, and of all that she has accomplished for us. For those readers from outside the HPS world, Donna Appell and her husband Richard founded the HPS Network in 1992. Their daughter, Ashley, has a particularly severe case of HPS. She developed colitis at the age of three and has spent her life in and out of hospitals – both for care and to promote research.
When Ashley was diagnosed with HPS, it’s estimated there were only 25 documented cases outside of Puerto Rico. Today we’re in the 400 range, I think (not counting Puerto Rico). There are likely far more because HPS is commonly never diagnosed, or misdiagnosed as Crohn’s disease or idiopathic pulmonary fibrosis.
The Appells received their HPS diagnosis in a world virtually devoid of any HPS research and no support system. Donna, an RN, was determined to change that and has devoted her life to finding our cure.
Some would think that any loving mother would go to the ends of the earth to save their child, but the truth is that while many are well-meaning, few faced with such an obscure diagnosis are able to accomplish what it takes to get the attention of the research community. But Donna is, if anything, persistent.
Realizing that she likely would be unable to raise the millions of dollars it would take to fund long-term studies, Donna started out by literally calling the National Institutes of Health (NIH) general number and tearfully asking for help. As she tried to explain HPS to the operator, she was transferred from institute to institute to institute until finally she hit upon Dr. William Gahl. He agreed to see Ashley, but was hesitant to take on HPS unless he felt he could make a meaningful impact.
After that first visit, Donna was determined to get the help of the NIH and Dr. Gahl. She implemented a mailing campaign that would make the best direct marketers proud. Every week something appeared in Dr. Gahl’s mail to remind him of Ashley and of HPS. Once it was a teddy bear dressed up as a doctor. Another time it was a toy microscope with Ashley’s picture where the slide would go and a note saying, “Please be our doctor.”
Dr. Gahl agreed to study Ashley as the index case, and for two years the Appells traveled to NIH every two months for a week. Finally, Dr. Gahl was convinced the world could benefit from spending money on HPS research, and the natural history protocol of HPS was born. It was the first of several studies, and several more to come, in search of the cure.
The story goes on from there through many challenges and many creative solutions that only someone like Donna could pull off.
It’s this talent for identifying the key players, and then drawing them into her cause, that I find amazing.
The HPS Network’s involvement with the American Thoracic Society started just a few years ago. Donna got wind that the society was accepting scientific posters from patient organizations. Unable to afford a real booth on the show floor, Donna and another HPS mom spent the four days of the conference sitting on the floor in front of their poster at the poster session. This is the sort of thing that just isn’t done at scientific meetings – but Donna was desperate to find a way to talk to lung doctors and researchers.
The other patient groups, as well as ATS, were so impressed by their tenacity that the HPS Network was invited to serve on the Public Advisory Roundtable of the American Thoracic Society.
The next year I joined Donna at ATS, and we “got rug” as Donna puts it – our own little 10-foot by 10-foot square of cement on the show floor. I spoke at the Public Advisory Board’s symposium, and now have been back three years to give talks in sessions at the show.
Donna is the sort of person who wisely sits back and observes a situation before diving in and getting herself in over her head. She attends scientific sessions and reads journal articles carefully summing up who are the leaders, and who are the followers, in pulmonary fibrosis research. Then, she sets about meeting just the right people and just the right times. She came to the show with a list of doctors we had to find and meet – and objectives for each of those seemingly casual encounters.
A few years ago Donna decided that she needed to get the name HPS in front of Dr. Talmage King, (sp?), a sort of rock star among pulmonary fibrosis researchers. I’m not kidding! Dr. King is easy to find among 15,000 doctors. Not only is he always presenting something, but he’s always got a trail of people following him, trying to just speak briefly with the medical giant. They’re like pulmonary fibrosis groupies. And at the end of that trail is Donna, patiently waiting until every other doctor and researcher has had their turn, just to say hello to Dr. King or to ask him a question.
Dr. King first got to know Donna when she made an appointment for Ashley to see him. Donna and Ashley flew across the country, from New York to San Francisco, in what was essentially a ploy just to get 15 minutes of Dr. King’s time. Her mission – Dr. King writes many of the textbooks on pulmonary fibrosis and gives scores of lectures on the topics, yet HPS was missing from his slides on the causes of pulmonary fibrosis. Donna wanted it added to his list.
When you stop and think about it – it’s amazing. It’s also the life of a rare disease. If you’ve got an orphan among orphan diseases simply going to the doctor and managing your own care isn’t enough. If it weren’t for the careful efforts of someone like Donna, no one would be interested in researching HPS.
I am constantly in awe of all that she does for HPS, and of all that she has accomplished for us. For those readers from outside the HPS world, Donna Appell and her husband Richard founded the HPS Network in 1992. Their daughter, Ashley, has a particularly severe case of HPS. She developed colitis at the age of three and has spent her life in and out of hospitals – both for care and to promote research.
When Ashley was diagnosed with HPS, it’s estimated there were only 25 documented cases outside of Puerto Rico. Today we’re in the 400 range, I think (not counting Puerto Rico). There are likely far more because HPS is commonly never diagnosed, or misdiagnosed as Crohn’s disease or idiopathic pulmonary fibrosis.
The Appells received their HPS diagnosis in a world virtually devoid of any HPS research and no support system. Donna, an RN, was determined to change that and has devoted her life to finding our cure.
Some would think that any loving mother would go to the ends of the earth to save their child, but the truth is that while many are well-meaning, few faced with such an obscure diagnosis are able to accomplish what it takes to get the attention of the research community. But Donna is, if anything, persistent.
Realizing that she likely would be unable to raise the millions of dollars it would take to fund long-term studies, Donna started out by literally calling the National Institutes of Health (NIH) general number and tearfully asking for help. As she tried to explain HPS to the operator, she was transferred from institute to institute to institute until finally she hit upon Dr. William Gahl. He agreed to see Ashley, but was hesitant to take on HPS unless he felt he could make a meaningful impact.
After that first visit, Donna was determined to get the help of the NIH and Dr. Gahl. She implemented a mailing campaign that would make the best direct marketers proud. Every week something appeared in Dr. Gahl’s mail to remind him of Ashley and of HPS. Once it was a teddy bear dressed up as a doctor. Another time it was a toy microscope with Ashley’s picture where the slide would go and a note saying, “Please be our doctor.”
Dr. Gahl agreed to study Ashley as the index case, and for two years the Appells traveled to NIH every two months for a week. Finally, Dr. Gahl was convinced the world could benefit from spending money on HPS research, and the natural history protocol of HPS was born. It was the first of several studies, and several more to come, in search of the cure.
The story goes on from there through many challenges and many creative solutions that only someone like Donna could pull off.
It’s this talent for identifying the key players, and then drawing them into her cause, that I find amazing.
The HPS Network’s involvement with the American Thoracic Society started just a few years ago. Donna got wind that the society was accepting scientific posters from patient organizations. Unable to afford a real booth on the show floor, Donna and another HPS mom spent the four days of the conference sitting on the floor in front of their poster at the poster session. This is the sort of thing that just isn’t done at scientific meetings – but Donna was desperate to find a way to talk to lung doctors and researchers.
The other patient groups, as well as ATS, were so impressed by their tenacity that the HPS Network was invited to serve on the Public Advisory Roundtable of the American Thoracic Society.
The next year I joined Donna at ATS, and we “got rug” as Donna puts it – our own little 10-foot by 10-foot square of cement on the show floor. I spoke at the Public Advisory Board’s symposium, and now have been back three years to give talks in sessions at the show.
Donna is the sort of person who wisely sits back and observes a situation before diving in and getting herself in over her head. She attends scientific sessions and reads journal articles carefully summing up who are the leaders, and who are the followers, in pulmonary fibrosis research. Then, she sets about meeting just the right people and just the right times. She came to the show with a list of doctors we had to find and meet – and objectives for each of those seemingly casual encounters.
A few years ago Donna decided that she needed to get the name HPS in front of Dr. Talmage King, (sp?), a sort of rock star among pulmonary fibrosis researchers. I’m not kidding! Dr. King is easy to find among 15,000 doctors. Not only is he always presenting something, but he’s always got a trail of people following him, trying to just speak briefly with the medical giant. They’re like pulmonary fibrosis groupies. And at the end of that trail is Donna, patiently waiting until every other doctor and researcher has had their turn, just to say hello to Dr. King or to ask him a question.
Dr. King first got to know Donna when she made an appointment for Ashley to see him. Donna and Ashley flew across the country, from New York to San Francisco, in what was essentially a ploy just to get 15 minutes of Dr. King’s time. Her mission – Dr. King writes many of the textbooks on pulmonary fibrosis and gives scores of lectures on the topics, yet HPS was missing from his slides on the causes of pulmonary fibrosis. Donna wanted it added to his list.
When you stop and think about it – it’s amazing. It’s also the life of a rare disease. If you’ve got an orphan among orphan diseases simply going to the doctor and managing your own care isn’t enough. If it weren’t for the careful efforts of someone like Donna, no one would be interested in researching HPS.
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