Thoughts About Following

PXE Literature

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By Fran Benham Prior to the identification of ABCC6 as the PXE gene mutation, the medical literature on PXE was sparse, generally limited to descriptions of individual or a few cases. After the announcement in 2000 of the gene discovery, PXE study articles increased so that today one can tap the Internet for numerous studies ranging from descriptive cases noted in regions where diagnosis is rare to analysis of the biology and chemistry of PXE. Remarkably, the studies are conducted by a growing community of global scientists. A quick review features reports from across the U.S., England, Holland, France, Germany, Belgium, Italy, India, Japan and China, countries with more than one research center reporting. And there are single sources from other countries, such as South Africa and Poland.   The popular media often is the initial source about research - especially if it indicates something dramatic, overcoming blindness, for example. Such reports too often are misleading, but they typically name the research center involved. These groups usually have a website with more realistic expectations for the research.   The "big" topics in PXE continue to be vision, cardiology, and more recently, PXE as a metabolic disorder. There are reports specific to PXE on cardiology and metabolic research, and to a lesser degree, on vision issues, but for most vision studies, one needs to broaden the Internet search to AMD or degenerative retinal disorders. The number of studies is overwhelming. The search can be refined by adding the terms VEGF (vascular endothelial growth factor) or stem cell therapy. Even here, the number and complexity of studies are daunting. And all this does not cover significant concerns, such as low vision services and technology and rehabilitation services, so important to our community. So how can lay persons, some without computer skills, hope to keep informed?   If possible, start with family and friends who have computer skills and are concerned about you. If that doesn't provide enough support, talk to colleagues in social groups or church. Contact nearby rehabilitation services as they may have or know about support groups. If there is a visiting nurse association available, talk to them. They may help start a group with a nurse leader. The same may be true of low vision service centers. Start your own group with others who have disorders such as AMD, glaucoma, diabetic retinopathy or other not uncommon degenerative retinal disorders. Researchers are informed by studies in all retinal degenerative disorders, and we may learn coping strategies, about local physicians and medical services, training programs, technology providers, etc., from others who struggle with various retinal disorders. Susan Golasz, NAPE member, formed such a group, the VIPs (Vision Impaired Persons) with various disorders. They meet monthly to share information, read aloud materials ranging from the popular media to medical literature, share community resource information and encourage each other. Susan reports good friendships have developed among group members as they support each other.   There are numerous groups which support those with vision loss. Some are activist oriented, including the American Council for the Blind and the National Federation of the Blind. Some focus on research fund raising, for example, the Foundation Fighting Blindness which conducts chapter meetings which provide research information. Lion Clubs are committed to helping those with vision loss and may be a good place to meet those who can help with information gathering. Even if a group does not focus on information about research, one may meet others to form a subgroup for that purpose.   Of course, NAPE will continue to support, encourage research and inform members. We report specifically about PXE, and if it seems important, about related studies. We expect in 2010 to keep readers aware of ongoing studies of PXE as a metabolic disorder and on possible AMD stem cell therapy studies. Should other studies reveal significantly important discoveries, they will be brought to your attention. For those deeply involved in understanding the biology and chemistry of PXE, the Internet is a valuable source.   What a marvelous problem - one we did not expect . . . so many PXE studies that lay persons are hard-pressed to keep track of them. When finding our mutant gene was a dream, we believed we could work together to find treatments and eventually a cure. We continue on that path and many have joined us. We welcome them as we continue to believe. NAPE will monitor scientific literature sources for information you may find useful. We encourage you to do the same with family, friends and in support groups.