The following article ran in the ATS Public Advisory newsletter. It's an interview with Donna as she is the incoming PAR President. I thought they did a nice job.
DONNA APPELL: AT THE TABLE WITH THE BIG BOYS
When Donna J. Appell, R.N., presented a poster on Hermansky-Pudlak Syndrome at the ATS International Conference in 2001, she didn't know much about the Society's newly formed Public Advisory Roundtable (PAR). She was simply a mother who wanted to enlist the physicians and scientists attending the conference in finding a cure for her daughter's devastating lung disease.
Ms. Appell is the founder and president of the Hermansky-Pudlak Syndrome (HPS) Network, Inc., a nonprofit support group for patients and families dealing with HPS, a rare genetic metabolic disorder that affects the way cell membranes are made and which can cause albinism, legal blindness, a platelet bleeding disorder, colitis and, the most dangerous symptom, pulmonary fibrosis.
Today, Ms. Appell serves as chair of PAR, the arm of the ATS that incorporates patient and family perspective into the Society's activities. It is through PAR that each year patient interest organizations like the HPS Network inform conference attendees of their work in the lung community.
"PAR has allowed us to sit at the table with the 'big boys,' to leverage and to effect progress," said Ms. Appell, who, in May 2007, joined the ATS in co-funding the first jointly funded research grant to be given to a young investigator studying HPS. "This is a major step forward in working toward a cure."
In 1986, Ms. Appell's first child, Ashley (pictured above), was diagnosed with albinism two weeks after birth during a routine checkup. Ms. Appell, who was working as an open-heart critical care nurse at the time, immediately began reading everything she could find about the disorder.
As her daughter grew, she noticed that Ashley showed signs of abnormal bruising. To understand why, Ms. Appell began to conduct her own research. "I came across a pamphlet on albinism that included a single sentence about the link between the disease and a platelet defect," she explained. She called the pamphlet's author, a doctor in Minnesota, who asked her to send him samples of Ashley's blood. He diagnosed Ashley with HPS. At the time, there were only 23 other known cases on the U.S. mainland.
When Ashley, at two-and-a-half years old, hemorrhaged and went into shock from GI bleeding, Ms. Appell and her husband became desperate. "We felt isolated, dealing with a rare disease and with doctors who had never seen it before," she said. "We needed to find out what other parents were doing and where the research community was in finding a cure . . . and we found nothing."
So she founded the HPS Network in 1993. Since then, the organization has grown on average by at least one family per week. Although Ms. Appell admits it is "run on a shoestring" with only two paid part-time staff members, the network provides education and support, organizes annual conferences and maintains a patient registry.
With all members anxious for research, in the mid-1990s, Ms. Appell discussed with the National Institutes of Health (NIH) the network's patient registry. "Our membership turned out to be a vital component for consideration for the NIH, and the HPS Network began to play an integral role in the recruitment of participants for all HPS research trials," she said.
Thanks to a collaboration forged with Dr. William Gahl, who is now intramural clinical director of the National Human Genome Research Institute, Ashley's was the first HPS case studied at the NIH. And in 1995, the first research protocol was approved for other HPS families. Individuals with HPS often die in their forties or fifties as a result of the disease. And although HPS has been identified in virtually all populations, it is most prevalent in people of Puerto Rican descent.
At present, neither the full extent of the disease nor its basic cause is known. However, because two of the eight genes associated with HPS, HPS1 and HPS4, predict the development of lung fibrosis, "we know who will get fibrosis before the first signs appear, so the progression of the disease can be studied," said Ms. Appell. Among the promising protocols currently under way, she adds, is a phase III clinical trial testing Pirfenidone, a drug that may slow pulmonary fibrosis by blocking the biochemical process of fibrosis, or scarring.
Ms. Appell lives in Oyster Bay Cove, New York, with her husband, Richard; their two children, Ashley and Richard; and Ms. Appell's parents. The family hobby is boating.
DONNA APPELL: AT THE TABLE WITH THE BIG BOYS
When Donna J. Appell, R.N., presented a poster on Hermansky-Pudlak Syndrome at the ATS International Conference in 2001, she didn't know much about the Society's newly formed Public Advisory Roundtable (PAR). She was simply a mother who wanted to enlist the physicians and scientists attending the conference in finding a cure for her daughter's devastating lung disease.
Ms. Appell is the founder and president of the Hermansky-Pudlak Syndrome (HPS) Network, Inc., a nonprofit support group for patients and families dealing with HPS, a rare genetic metabolic disorder that affects the way cell membranes are made and which can cause albinism, legal blindness, a platelet bleeding disorder, colitis and, the most dangerous symptom, pulmonary fibrosis.
Today, Ms. Appell serves as chair of PAR, the arm of the ATS that incorporates patient and family perspective into the Society's activities. It is through PAR that each year patient interest organizations like the HPS Network inform conference attendees of their work in the lung community.
"PAR has allowed us to sit at the table with the 'big boys,' to leverage and to effect progress," said Ms. Appell, who, in May 2007, joined the ATS in co-funding the first jointly funded research grant to be given to a young investigator studying HPS. "This is a major step forward in working toward a cure."
In 1986, Ms. Appell's first child, Ashley (pictured above), was diagnosed with albinism two weeks after birth during a routine checkup. Ms. Appell, who was working as an open-heart critical care nurse at the time, immediately began reading everything she could find about the disorder.
As her daughter grew, she noticed that Ashley showed signs of abnormal bruising. To understand why, Ms. Appell began to conduct her own research. "I came across a pamphlet on albinism that included a single sentence about the link between the disease and a platelet defect," she explained. She called the pamphlet's author, a doctor in Minnesota, who asked her to send him samples of Ashley's blood. He diagnosed Ashley with HPS. At the time, there were only 23 other known cases on the U.S. mainland.
When Ashley, at two-and-a-half years old, hemorrhaged and went into shock from GI bleeding, Ms. Appell and her husband became desperate. "We felt isolated, dealing with a rare disease and with doctors who had never seen it before," she said. "We needed to find out what other parents were doing and where the research community was in finding a cure . . . and we found nothing."
So she founded the HPS Network in 1993. Since then, the organization has grown on average by at least one family per week. Although Ms. Appell admits it is "run on a shoestring" with only two paid part-time staff members, the network provides education and support, organizes annual conferences and maintains a patient registry.
With all members anxious for research, in the mid-1990s, Ms. Appell discussed with the National Institutes of Health (NIH) the network's patient registry. "Our membership turned out to be a vital component for consideration for the NIH, and the HPS Network began to play an integral role in the recruitment of participants for all HPS research trials," she said.
Thanks to a collaboration forged with Dr. William Gahl, who is now intramural clinical director of the National Human Genome Research Institute, Ashley's was the first HPS case studied at the NIH. And in 1995, the first research protocol was approved for other HPS families. Individuals with HPS often die in their forties or fifties as a result of the disease. And although HPS has been identified in virtually all populations, it is most prevalent in people of Puerto Rican descent.
At present, neither the full extent of the disease nor its basic cause is known. However, because two of the eight genes associated with HPS, HPS1 and HPS4, predict the development of lung fibrosis, "we know who will get fibrosis before the first signs appear, so the progression of the disease can be studied," said Ms. Appell. Among the promising protocols currently under way, she adds, is a phase III clinical trial testing Pirfenidone, a drug that may slow pulmonary fibrosis by blocking the biochemical process of fibrosis, or scarring.
Ms. Appell lives in Oyster Bay Cove, New York, with her husband, Richard; their two children, Ashley and Richard; and Ms. Appell's parents. The family hobby is boating.
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