If you’ve tried to call the HPS Network in the last couple of weeks, it might have taken Donna a while to get back to you. The Appell family has had its hands full. As many of you know, Donna’s husband Richard had a heart attack two weeks before the HPS conference this year. Can you imagine having 220 “guests” for a conference only two weeks after such a scare? But, that’s the Appell family. The show must go on.
Since then Richard has been having some GI bleeding issues. I told Ashley on the phone a few weeks ago to tell her dad, “Only one customer per family – tell your dad you’ve got it covered.” She seemed to think that was funny. Grin.
The problems have continued. Meanwhile, Donna has continued to manage Ashley’s care which requires being admitted to the hospital about once every six weeks. This past week Richard was in one hospital and Ashley was in another. Donna was shuttling back and forth trying to be there for both of them. In the midst of this, Richie, Donna’s son, was trying to leave for college. Donna also cares for her two elderly parents that live with the family.
Needless to say she had her hands full.
This past Friday doctors removed a mass from Richard’s small bowel, a surgery made more complicated by his heart issues. He’s doing great and on the mend. Ashley is back home.
I didn’t post sooner because I didn’t want to do so without Donna’s permission.
The Appell family could use some prayers – and I think it would be very nice if we showed them some support. In the midst of their own struggles, they’ve always somehow supported all of us.
Most of the readers of this blog are fellow HPS’ers, however, there are a few friends, family and others that have just stumbled upon this page – and seem to keep coming back.
I think the Appell story is amazing, and for those non-HPS’ers that are out there supporting all of us, I think it’s a story you should know.
When Ashley was less than two years old, Donna awoke one night to hear her whimpering in her crib. When she went to check on Ashley, she found Ashley’s diaper full of blood. As she tried to clean Ashley, the blood just kept coming. The family scooped up Ashley, her four-month-old little brother Richie and headed for the emergency room.
It was hard to get the right diagnosis for Ashley because HPS is so rare and generally thought of as a Puerto Rican disorder. The Appells are not Puerto Rican.
In the meantime, Ashley had a tough time of it. She’s now 20 years old, but during her lifetime she’s had several hundred units of platelets and blood transfused. I have a letter Donna wrote with Ashley was 13. At that time, she’d been hospitalized more than 60 times – by now it must be in the hundreds. Side effects from powerful medications have caused all sorts of other problems such as fractures, osteoporosis and kidney failure.
But Ashley is a survivor. She’s finished high school and is now working at a local day care. She’s always happy. I’ve rarely ever seen her without a smile on her face. And she’s always concerned about everyone else around her. I remember once at a fundraiser I started to feel a bit tired and light headed. I’ll never forget how Ashley clued into the fact that I wasn’t feeling well immediately, even though I was trying to fake it. “Heather, it’s okay if you sit down for a minute,” she told me.
Donna was a cardiac ICU nurse. She knew that as compassionate and concerned as Ashley’s doctors were, they were only treating symptoms and not the underlying genetic defect causing the problem.
Donna knew she needed to generate some interest in research, but had no funds to offer. At the time there were only 25 known cases (although we all know there were more) of HPS outside of Puerto Rico.
Thus, in 1992 the Appells founded the HPS Network. They worked to find other HPS families, help other families get diagnosed, create a patient registry and form a patient community. If they couldn’t offer money, at least they could offer the scientific community a well organized group of patients wanting and willing to participate in research.
The HPS Network was incorporated in 1995.
Donna set out to try to get the attention and interest of the NIH. After many referrals and searching, she found Dr. William Gahl. He was the perfect guy to research HPS. But there are lots of rare diseases in need of research. Donna set out to win him over. She sent teddy bears dressed up like doctors, and toy microscopes with Ashley’s picture where the slide should go – all with notes saying, “Please be our doctor.”
Dr. Gahl agreed to see Ashley and invited the Appells to NIH. He ran all sorts of tests on Ashley and decided that there was value in studying HPS because it could hold clues to so many other disorders. Ashley became the index case at NIH and a natural history study was opened.
In 1997 the first drug trial to treat the pulmonary fibrosis of HPS was opened, and in 2005 a second trial was opened. This year a multi drug trial is opening to study the fibrosis of HPS. We’re also hoping a study for the GI problems of HPS will open soon, although it seems to be delayed right now.
Almost two years ago, with the Network bursting at the seams, Donna gave up her job to work full time for the Network for no salary.
She also serves as President of the American Thoracic Society’s Public Advisory Roundtable and until this year was on the board of directors of the Genetic Alliance. She serves on the board of the NOAH, the national organization for people with albinism. And, she’s a co-founder (and I think board member) of Project DOCC. Project DOCC is a program being used in a number of medical schools to teach doctors about what it’s like to have a chronically ill child. The doctor trainees spend time with trained families to observe their routine, and how the care of the chronically-ill child affects the rest of the family.
Donna has a gift for not only organizing and the medical aspects of HPS, but also for politics. So much of the research world is political. She’s been able to size up what we need to accomplish as the Network, who we need to build relationships with and how to do it. Richard, her husband, has made it possible for Donna to spend the time doing these things for us.
We owe them a lot.
Since then Richard has been having some GI bleeding issues. I told Ashley on the phone a few weeks ago to tell her dad, “Only one customer per family – tell your dad you’ve got it covered.” She seemed to think that was funny. Grin.
The problems have continued. Meanwhile, Donna has continued to manage Ashley’s care which requires being admitted to the hospital about once every six weeks. This past week Richard was in one hospital and Ashley was in another. Donna was shuttling back and forth trying to be there for both of them. In the midst of this, Richie, Donna’s son, was trying to leave for college. Donna also cares for her two elderly parents that live with the family.
Needless to say she had her hands full.
This past Friday doctors removed a mass from Richard’s small bowel, a surgery made more complicated by his heart issues. He’s doing great and on the mend. Ashley is back home.
I didn’t post sooner because I didn’t want to do so without Donna’s permission.
The Appell family could use some prayers – and I think it would be very nice if we showed them some support. In the midst of their own struggles, they’ve always somehow supported all of us.
Most of the readers of this blog are fellow HPS’ers, however, there are a few friends, family and others that have just stumbled upon this page – and seem to keep coming back.
I think the Appell story is amazing, and for those non-HPS’ers that are out there supporting all of us, I think it’s a story you should know.
When Ashley was less than two years old, Donna awoke one night to hear her whimpering in her crib. When she went to check on Ashley, she found Ashley’s diaper full of blood. As she tried to clean Ashley, the blood just kept coming. The family scooped up Ashley, her four-month-old little brother Richie and headed for the emergency room.
It was hard to get the right diagnosis for Ashley because HPS is so rare and generally thought of as a Puerto Rican disorder. The Appells are not Puerto Rican.
In the meantime, Ashley had a tough time of it. She’s now 20 years old, but during her lifetime she’s had several hundred units of platelets and blood transfused. I have a letter Donna wrote with Ashley was 13. At that time, she’d been hospitalized more than 60 times – by now it must be in the hundreds. Side effects from powerful medications have caused all sorts of other problems such as fractures, osteoporosis and kidney failure.
But Ashley is a survivor. She’s finished high school and is now working at a local day care. She’s always happy. I’ve rarely ever seen her without a smile on her face. And she’s always concerned about everyone else around her. I remember once at a fundraiser I started to feel a bit tired and light headed. I’ll never forget how Ashley clued into the fact that I wasn’t feeling well immediately, even though I was trying to fake it. “Heather, it’s okay if you sit down for a minute,” she told me.
Donna was a cardiac ICU nurse. She knew that as compassionate and concerned as Ashley’s doctors were, they were only treating symptoms and not the underlying genetic defect causing the problem.
Donna knew she needed to generate some interest in research, but had no funds to offer. At the time there were only 25 known cases (although we all know there were more) of HPS outside of Puerto Rico.
Thus, in 1992 the Appells founded the HPS Network. They worked to find other HPS families, help other families get diagnosed, create a patient registry and form a patient community. If they couldn’t offer money, at least they could offer the scientific community a well organized group of patients wanting and willing to participate in research.
The HPS Network was incorporated in 1995.
Donna set out to try to get the attention and interest of the NIH. After many referrals and searching, she found Dr. William Gahl. He was the perfect guy to research HPS. But there are lots of rare diseases in need of research. Donna set out to win him over. She sent teddy bears dressed up like doctors, and toy microscopes with Ashley’s picture where the slide should go – all with notes saying, “Please be our doctor.”
Dr. Gahl agreed to see Ashley and invited the Appells to NIH. He ran all sorts of tests on Ashley and decided that there was value in studying HPS because it could hold clues to so many other disorders. Ashley became the index case at NIH and a natural history study was opened.
In 1997 the first drug trial to treat the pulmonary fibrosis of HPS was opened, and in 2005 a second trial was opened. This year a multi drug trial is opening to study the fibrosis of HPS. We’re also hoping a study for the GI problems of HPS will open soon, although it seems to be delayed right now.
Almost two years ago, with the Network bursting at the seams, Donna gave up her job to work full time for the Network for no salary.
She also serves as President of the American Thoracic Society’s Public Advisory Roundtable and until this year was on the board of directors of the Genetic Alliance. She serves on the board of the NOAH, the national organization for people with albinism. And, she’s a co-founder (and I think board member) of Project DOCC. Project DOCC is a program being used in a number of medical schools to teach doctors about what it’s like to have a chronically ill child. The doctor trainees spend time with trained families to observe their routine, and how the care of the chronically-ill child affects the rest of the family.
Donna has a gift for not only organizing and the medical aspects of HPS, but also for politics. So much of the research world is political. She’s been able to size up what we need to accomplish as the Network, who we need to build relationships with and how to do it. Richard, her husband, has made it possible for Donna to spend the time doing these things for us.
We owe them a lot.
Comments
I wish you and the Appell's peace and happiness and I pray that this disease is scientifically explored and beaten.