Here's the article that appeared in their local paper.
Brothers face rare genetic disease
4/13/2008
Greens to take part in federal study of HPS
By Dariush Shafa
Messenger-Inquirer
Todd and Ethan Green now have one more thing in common.
Within the last few weeks, the brothers have learned that they have Hermansky-Pudlak Syndrome, a rare genetic disease that researchers are trying to learn more about. Soon, they will be going to the National Institutes of Health in Bethesda, Md., to be part of a study that seeks to find out more about it.
The disease also could spell trouble for the brothers, since studies have found that nearly three-quarters of people diagnosed with the HPS die from health problems related to it.
"I'm pretty scared about it because of all the things they say could happen to me," said Todd Green, 21. "It can happen all of the sudden."
However, scared or not, the brothers say they don't anticipate much of a change in their lives.
"I'm just trying to live my life as best I can," Todd Green said. "There's nothing I can do about it so I'm just going to keep living how I am."
Ethan Green, a 16-year-old freshman at Daviess County High School, felt very much the same.
"I think I'm just going to live life as it comes and enjoy it how it is," Ethan Green said.
HPS was first identified by two doctors in Czechoslovakia in 1959, but very little is known about the disease. HPS' main indicators are albinism, which is a lack of pigmentation either in the whole body or in the eyes, where it can cause vision problems, and platelet dysfunction, which can cause blood clotting problems and a tendency to bruise easily.
Researchers have identified eight genes so far that contribute to HPS and several different types of the disease. However, knowledge is still limited and doctors don't know how prevalent the disease is outside of Puerto Rico, where it's common. One out of every 1,800 native Puerto Ricans has HPS, and 1 in every 21 carries the genes for it.
In 1992, Donna Appell and her husband founded the HPS Network, which aims to help people with the disease learn more about it and get the resources they need for help. The network, which is based in Oyster Bay, N.Y., also has a major focus in promoting research for HPS and raising money to support the search for treatments and a cure.
Nationwide, the HPS Network has only 784 people registered, and Appell said that's largely due to ignorance of the disease. She said many people only discover it through a connect-the-dots process of examining both albinism and bleeding problems.
"It's very underdiagnosed," Appell said. "It's usually through some untoward event that people begin to suspect there's a bleeding problem, and once they see that they tend to search it through and come to HPS."
Appell said she and her husband started the HPS Network after her daughter was diagnosed with the disease and she found little information about it. Since they started in 1992, they have added about one person per week to their national registry of sufferers of HPS.
Since so little is known about HPS, the National Institutes of Health has begun a study that aims to follow sufferers of HPS and learn more about the process of the disease.
"This is the research that will gather all this data over time, a longitudinal study to determine what this is going to look like," Appell said. "You can research it all along the way."
As it turns out, this research could have major benefits for people who don't have HPS. Many of the people who have the disease later develop some form of pulmonary fibrosis, a disease where the lungs harden from fibrous tissue and the sufferer has trouble breathing, or from an inflammatory bowel disease. By studying people with HPS who are expected to develop these other problems, doctors hope to learn more about how to treat or even prevent the secondary diseases.
"There's a lot of benefit to that because you can study and end up unlocking mysteries of the generic population," Appell said. "(Following research) from rare to common is really useful."
The goal is also to develop treatments for pulmonary fibrosis, which is the most dangerous of the diseases secondary to HPS.
"They can succumb in their 30s or 40s. Therefore it was very important for the researchers to find a drug to treat the pulmonary fibrosis at the same time they're looking for a cure," Appell said. " We need to be able to give these people a better quality of life and a longer life and that's where the treatment is with a drug trial for the pulmonary fibrosis."
Heather Alvey, Todd and Ethan Green's mother, said for now, she just hopes to raise awareness of the disease and raise money to help find a cure. Right now, that's all she knows she can do.
"It hasn't (changed our lives very much) so far, luckily. They don't have any serious symptoms yet," she said. "We just don't know what the future holds. ... I hope to be able to raise money for the organization and keep an eye on the kids."
She also said that knowing about the disease helps her know what she needs to do.
"Now that I know they have HPS, I can be prepared for anything that comes up," Alvey said.
Todd and Ethan Green said they also want to take steps toward raising awareness and funding research for the disease, since it's all they know they can do right now.
"I'm trying to find out what I can do to make it better," Todd Green said adding that they now know what they're facing and they know they're facing it together. "Now we know me and him have one other thing in common."
For Information
For more information or resources about Hermansky-Pudlak Syndrome or to make a donation to the Hermansky-Pudlak Syndrome Network, visit www.hpsnetwork.org or call toll-free 1-800-789-9477.
Brothers face rare genetic disease
4/13/2008
Greens to take part in federal study of HPS
By Dariush Shafa
Messenger-Inquirer
Todd and Ethan Green now have one more thing in common.
Within the last few weeks, the brothers have learned that they have Hermansky-Pudlak Syndrome, a rare genetic disease that researchers are trying to learn more about. Soon, they will be going to the National Institutes of Health in Bethesda, Md., to be part of a study that seeks to find out more about it.
The disease also could spell trouble for the brothers, since studies have found that nearly three-quarters of people diagnosed with the HPS die from health problems related to it.
"I'm pretty scared about it because of all the things they say could happen to me," said Todd Green, 21. "It can happen all of the sudden."
However, scared or not, the brothers say they don't anticipate much of a change in their lives.
"I'm just trying to live my life as best I can," Todd Green said. "There's nothing I can do about it so I'm just going to keep living how I am."
Ethan Green, a 16-year-old freshman at Daviess County High School, felt very much the same.
"I think I'm just going to live life as it comes and enjoy it how it is," Ethan Green said.
HPS was first identified by two doctors in Czechoslovakia in 1959, but very little is known about the disease. HPS' main indicators are albinism, which is a lack of pigmentation either in the whole body or in the eyes, where it can cause vision problems, and platelet dysfunction, which can cause blood clotting problems and a tendency to bruise easily.
Researchers have identified eight genes so far that contribute to HPS and several different types of the disease. However, knowledge is still limited and doctors don't know how prevalent the disease is outside of Puerto Rico, where it's common. One out of every 1,800 native Puerto Ricans has HPS, and 1 in every 21 carries the genes for it.
In 1992, Donna Appell and her husband founded the HPS Network, which aims to help people with the disease learn more about it and get the resources they need for help. The network, which is based in Oyster Bay, N.Y., also has a major focus in promoting research for HPS and raising money to support the search for treatments and a cure.
Nationwide, the HPS Network has only 784 people registered, and Appell said that's largely due to ignorance of the disease. She said many people only discover it through a connect-the-dots process of examining both albinism and bleeding problems.
"It's very underdiagnosed," Appell said. "It's usually through some untoward event that people begin to suspect there's a bleeding problem, and once they see that they tend to search it through and come to HPS."
Appell said she and her husband started the HPS Network after her daughter was diagnosed with the disease and she found little information about it. Since they started in 1992, they have added about one person per week to their national registry of sufferers of HPS.
Since so little is known about HPS, the National Institutes of Health has begun a study that aims to follow sufferers of HPS and learn more about the process of the disease.
"This is the research that will gather all this data over time, a longitudinal study to determine what this is going to look like," Appell said. "You can research it all along the way."
As it turns out, this research could have major benefits for people who don't have HPS. Many of the people who have the disease later develop some form of pulmonary fibrosis, a disease where the lungs harden from fibrous tissue and the sufferer has trouble breathing, or from an inflammatory bowel disease. By studying people with HPS who are expected to develop these other problems, doctors hope to learn more about how to treat or even prevent the secondary diseases.
"There's a lot of benefit to that because you can study and end up unlocking mysteries of the generic population," Appell said. "(Following research) from rare to common is really useful."
The goal is also to develop treatments for pulmonary fibrosis, which is the most dangerous of the diseases secondary to HPS.
"They can succumb in their 30s or 40s. Therefore it was very important for the researchers to find a drug to treat the pulmonary fibrosis at the same time they're looking for a cure," Appell said. " We need to be able to give these people a better quality of life and a longer life and that's where the treatment is with a drug trial for the pulmonary fibrosis."
Heather Alvey, Todd and Ethan Green's mother, said for now, she just hopes to raise awareness of the disease and raise money to help find a cure. Right now, that's all she knows she can do.
"It hasn't (changed our lives very much) so far, luckily. They don't have any serious symptoms yet," she said. "We just don't know what the future holds. ... I hope to be able to raise money for the organization and keep an eye on the kids."
She also said that knowing about the disease helps her know what she needs to do.
"Now that I know they have HPS, I can be prepared for anything that comes up," Alvey said.
Todd and Ethan Green said they also want to take steps toward raising awareness and funding research for the disease, since it's all they know they can do right now.
"I'm trying to find out what I can do to make it better," Todd Green said adding that they now know what they're facing and they know they're facing it together. "Now we know me and him have one other thing in common."
For Information
For more information or resources about Hermansky-Pudlak Syndrome or to make a donation to the Hermansky-Pudlak Syndrome Network, visit www.hpsnetwork.org or call toll-free 1-800-789-9477.
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