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Locating more pieces to solve a deadly
puzzle
The Alpha-1 Foundation in Coconut Grove celebrates its 10th anniversary with stem-cell research and new hope for a cure. BY DESONTA HOLDER The Miami Herald, (May 31, 2005) — John Walsh
and his twin brother Fred struggled with an unknown illness in the '80s.
Walsh lived in Maryland and Fred was in Massachusetts, but they had the
same symptoms -- severe allergies and respiratory problems.
One day Fred called with good news and bad news. The good: ''We know
what we have. We have this condition called Alpha-1 Antitrypsin
Deficiency.'' The bad: Their mother died at 46. She had early-onset emphysema.
''Reality set in that [Alpha-1] was genetic and we had what mom had,''
Walsh said. The disease results in low or no levels of the alpha-1 antitrypsin
protein in the blood. Symptoms include shortness of breath, lung
infections and allergies. The condition can be diagnosed through a blood
test, but there is no cure. ''Most physicians don't believe it's a common disease,'' said Dr.
Michael Campos, an assistant professor at the University of Miami who has
been doing research on Alpha-1 for about two years. ``It has been sealed
in our heads in medical school that this only happens in Northern European
countries -- Sweden, Denmark. But most of my patients are Hispanic.'' The National Institutes of Health confirmed the Walshes' diagnosis in
1989, and they joined the agency's study on Alpha-1. The NIH collected
data and developed a protein therapy. Meanwhile, Walsh had a hard time
finding educational material on Alpha-1, which leads to lung disease and
liver damage. His lung capacity today is about 40 percent of a healthy
lung. ''If I was carrying a briefcase or bag of groceries, I wouldn't be able
to talk and walk,'' he said. ``But generally, I'm healthy. Most people
couldn't make it to 56.'' Fred has about 20 percent lung capacity and he's on a transplant list. Their sister Sue was diagnosed at 55. Her lung capacity is about 60
percent. In 1993, Walsh moved to Miami for the better climate. At a support
group in West Palm Beach, the common theme among the Alphas, as they call
themselves, was a need for educational material. Someone came up with the
idea to create a CD-Rom. Walsh raised the money and the CD was produced. Then, when the NIH study ended in 1995, Walsh was determined to do
more. As long as there was no cure, there was a need for more research. THREE FOUNDERS That same year, Walsh, Susan Stanley and Sandy Lindsey, all Alphas,
created the Alpha-1 Foundation, located in Coconut Grove. Back then, they
never dreamed there would be new therapies with the hope of a cure, Walsh
said. But the not-for-profit national organization has flourished with
grants, matching funds, fundraising events and the support of the South
Florida community. It marks its 10th anniversary with many accomplishments
including these, which it has funded or created: • • The not-for-profit AlphaNet offers disease management and consultation services. It takes care of 3,000 Alphas and it has donated $14 million to research.• The Alpha-1 research registry at the Medical University of South Carolina is the world's largest. A repository of Alpha-1 DNA tissue at the University of Florida is available to the international investigative community.• The Big Fat Reference Guide for Alphas is online at www.alphanet.org to empower Alphas to take care of themselves. ''All educational materials from this rinky-dink operation in Florida have been translated in seven languages for the international community,'' Walsh said.• Stem-cell research is in the works at the University of Minnesota, the University of Cincinnati and Mount Sinai Medical Center in New York.• Gene therapy for the lung and liver is being researched at the University of Florida and the University of California at San Diego.Also, the state of Florida has invested about $2 million in a detection program launched nationally last year. ''Our struggle is getting people diagnosed early,'' Walsh said. ''The most important thing is detection and screening,'' said Campos, whose research is funded by the Alpha-1 Foundation. In the United States, ``we have only diagnosed around 5 percent of [an estimated 100,000] people with the disease.'' Many of them develop chronic obstructive pulmonary disease, but many physicians think COPD is from smoking and they don't even think about Alpha-1, he said. Today, new guidelines urge everybody with COPD, chronic bronchitis or emphysema to be tested for Alpha-1. ASK FOR THE TEST ''We're stressing to physicians to do the test on patients with these diseases and we're stressing that patients with these diseases ask for the test,'' Campos said. ``We expect to find 1 to 2 percent of the diagnoses to have Alpha-1. Campos is studying the prevalence of the disease among Hispanics and he's working with Pulmonary Physicians of South Florida to do massive Alpah-1 screening on their COPD patients. ''Ten years ago, there was no private funding for Alpha-1 research,'' Walsh said. ``We've invested over $19 million in research. Ten years ago, we only knew 2,000 people with Alpha-1. We got three times as many identified now and we've got our targeted detection program committed to identifying everybody with Alpha-1.'' Walsh's partners, Stanley and Lindsey, lost their lives to Alpha-1 in 2000 and 2002 respectively. And Walsh remembers watching his mother deteriorate -- ``she had gotten more sick and more sick. She was on oxygen. It wasn't a pleasant experience to watch her wither away.'' ''We lose 20 Alphas a month to Alpha-1,'' he said. ``Our objective is to put ourselves out of business. . . . We want to cure Alpha-1.'' Source |