FYI from the NHLBI Index

September 2004: Vol. 5, Issue 2
Constituents' Corner

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Pulmonary Fibrosis Foundation Publishes Patient Handbook

From the Pulmonary Fibrosis Foundation

In response to patient requests for information on pulmonary fibrosis, the Pulmonary Fibrosis Foundation has published a 48-page handbook on the disease. The booklet provides answers to questions such as, What is pulmonary fibrosis? What are its prevalence, symptoms, causes, treatments, and prognosis? Detailed information is provided in language that an average patient can understand.

The impact of pulmonary fibrosis on patients’ lives is covered in a caring, supportive manner. Most important, the handbook is full of suggestions for coping mechanisms that will help patients adjust to the loss of function that usually accompanies pulmonary fibrosis and enjoy life as fully as possible. The latest developments in research and new treatments are covered extensively. Patients are advised to be active participants in their treatment team. The issue of doctor visits and their inherent frustrations is covered via specific and detailed suggestions.

Thirteen thousand complimentary copies have been mailed to pulmonologists throughout the United States. We are prepared to distribute up to 50,000 copies if the demand materializes. At this point, we would like to thank Charles P. McQuaid and his family for the very generous financial contribution that made this all possible. Mr. McQuaid’s father is a pulmonary fibrosis patient. We would also like to thank James Kiley, Ph.D., Director, Division of Lung Diseases, NHLBI, for his very insightful editorial comments during the preparation of the manuscript.

In cooperation with the American College of Chest Physicians and the American Thoracic Society, we are planning to publish a physician’s version of this handbook. In addition, we are having both books translated into Spanish for distribution in Latin America and Spain. Physicians desiring copies may call us at 312-377-6895 or write to the Foundation at 1440 West Washington Boulevard, Chicago, Illinois 60607.

Submitted by Michael Rosenzweig, Ph.D., President & CEO, Pulmonary Fibrosis Foundation

Modified 8/25/04
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Barth Syndrome Foundation Holds Conference

From the Barth Syndrome Foundation

The Barth Syndrome Foundation, Inc., would like to report on the great success of its second biennial International Scientific/Medical and Family Conference that was held in Orlando, Florida, in July. Barth syndrome is an X-linked recessive condition that encompasses cardiomyopathy, neutropenia, skeletal muscle weakness, and growth delay.

Because both “heart” and “blood” components are involved in the syndrome, people associated with the NHLBI had a significance presence at the meeting for scientists and physicians. Dr. John Fakunding, Director of the Heart Research Program in the Division of Heart and Vascular Diseases, kicked off the Scientific/Medical meeting with an overview of the NHLBI perspective. Later, Dr. Susan Old, Associate Director of the Clinical and Molecular Medicine Program, gave a talk entitled “Genetics, Genomics, and Proteomics.” She described the technical resources in these leading-edge areas that are available to researchers through the NHLBI. After having heard Dr. Old speak at the Public Interest Organization meeting in February, we realized that the information she presented was so valuable and timely that we invited her to give essentially the same talk at our conference. She was kind enough to do so. Consequently, she and one of the researchers funded by the Barth Syndrome Foundation now are collaborating to investigate the creation of an antibody that is needed by a number of scientists working on the disorder. Dr. Liana Harvath, Deputy Director of the Division of Blood Diseases and Resources, also attended our conference, and provided the perspective of the NHLBI blood program, which was wonderful.

One of the other factors that made our meeting so successful was the structure of the conference itself. Our first conference two years ago included two simultaneous tracks of sessions – one for scientists and doctors and the other one for families. At the most recent meeting, a third track was added – one for the affected boys themselves. We found that this framework served our needs incredibly well.

Having researchers and physicians meet together is a very positive experience. Interaction among researchers and within the physician communities has obvious benefits, but we also see tremendous advantage in having the bench scientists and the clinicians meet together. The basic scientists are intrigued by the clinical manifestations of the processes that they study on a cellular or even molecular level. In turn, the doctors who treat patients with the syndrome often gain a lot from an increased understanding of what occurs on a microscopic level.

I believe that including the families of those affected by Barth syndrome in simultaneous meetings at the same location made the real difference in our conference. Because Barth syndrome is rare (though almost definitely much less rare than commonly thought), most physicians have seen only one case, if any. And, of course, most bench scientists never have any exposure to patients with a condition related to the basic science they study. This convergence of people interested in an uncommon condition on so many levels is a unique, and often very compelling, experience for everyone involved. The physicians are intrigued by seeing additional patients with the syndrome and being able to make even cursory comparisons. Furthermore, we received many comments from basic scientists, such as, “I have always been involved in my particular research because I am fascinated by it and I love working on it, but having come to your meeting, I now know that what I do also is important.”

The patients and their families benefit as well. In this conference model, families have access to the world’s experts in specialties that are very important to them. Because people with Barth Syndrome, like victims of many other rare genetic disorders, now fortunately are living much longer and, with continuing advances, have a much more promising future, it is really important that the boys and young men with Barth syndrome themselves have an opportunity to meet with these experts as well. During our previous conference, we offered some opportunities for the boys to meet with various world-class physician experts on the disorder. Building on that success, this year, we also held sessions, just for the patients, with basic researchers on subjects such as “I am the Research.” During one such session, the young men affected by Barth syndrome had a chance to talk with and ask hard questions of a bench scientist who studies important aspects of the science related to the condition. The young men thought it was great, and so did the biochemist who led the session.

I think it is safe to say that all those who attended the recent Barth Syndrome International Scientific/Medical and Family Conference came away with a renewed sense of strength, community, and collaboration and a reinvigorated sense of determination, urgency, and commitment. This conference model may not be appropriate for every condition, but in the right circumstances, it can work beautifully.

Submitted by Kate McCurdy, Vice President of Science and Medicine, Barth Syndrome Foundation, Inc.

Modified 8/25//04
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