eNews November 2009
November 4, 2009
Volume 2, No. 4
$100,000 Grant from Helmsley Charitable Trust
PXE International is immensely grateful to the Leona M. and Harry B. Helmsley Charitable Trust for a one-year grant of $100,000 to support operating costs. The Trust, established in 1999, aspires to improve lives by supporting effective nonprofits with a major focus on health and medical research, in addition to programs in human services, education, and conservation. PXE International is using the funds to support, among other things, a full-time salaried Assistant Director, BioBank costs, and MemberGram publication. These services, and more, are provided with the hope of immediately improving the lives of the global PXE population.
Do Other Genes Influence the Severity of PXE?
Changes in vision seen in individuals affected by PXE are similar to those seen with "wet" Age-related Macular Degeneration (AMD). In both AMD and PXE, proteins, or chemicals, called vascular endothelial growth factors (VEGFs) cause the development of new brittle blood vessels in the retina. Recently, new studies have shown that certain minor changes, called polymorphisms, in the VEGFA gene, which controls production of VEGF proteins, can be associated with the development of AMD. With this new understanding of the mechanisms behind AMD, researchers in Germany examined how polymorphisms in the VEGFA gene might work in combination with the ABCC6 gene to result in more severe retinal changes and vision loss. For more information about this study, click here to read a lay summary .
Embrace the Change, by Jan Nesset
A letter of encouragement from Jan Nesset, a PXEer from Canada, to his fellow PXEers
My own PXE story is not unlike many others; visible symptoms almost from birth, early diagnosis at the age of nine, loss of vision starting at age 46 (11 years ago), then legal blindness a couple of years later. So my life has changed quite a bit, but not at all for the worse. I am a "semi-retired" (on disability due to PXE) engineer but still do consulting work around the world, teach an engineering course (Process Analysis and Modeling) here at McGill University in Montreal to undergraduate and graduate students, prepare and conduct technical courses for industry, am finishing my Ph.D. in my spare time and still enjoy downhill skiing and even squash (the brain can project where the ball will be even if the eyes cannot see it directly).
I would even make a case that my quality of life has actually improved since my vision loss. This is not a cavalier statement. The relatively rapid personal and family changes brought on by vision loss (such as stopping driving, changing career objectives, uncertain income) brought some anxious moments; however, they forced our family to sort out what the really important things in our lives were, and we moved on quickly from there.
The key was to secure a long-term disability arrangement with the insurance company that recognized my capability to do limited work, without jeopardizing the basic disability payments. I now share any extra revenue with the insurer on a 50:50 basis. As a consequence, there has not been a large impact on the bottom line, and I am able to get involved as a consultant in projects that reflect my engineering skills and that I really enjoy. I have several months "off" each year for time with friends and family, and to pursue hobbies and sports activities. My wife, after years as a stay-at-home mom with our two daughters, took advantage of the family changes to go back to school, get a Masters and a Ph.D., and is now a university professor teaching library and information science.
My simple message: embrace the changes when they occur and stay positive.
Celebrate PXE International's 15 Year Anniversary with Us!
Save the date! PXE International will celebrate its 15-year anniversary during next year's Biennial Conference on September 10-12, 2010 at the Bethesda North Marriott Hotel and Conference Center in Bethesda, Maryland. The International Translational PXE Research Meeting will be held in conjunction with the biennial conference.
Combined Federal Campaign of the National Capital Area (CFCNCA)
To our friends who are federal employees in the National Capital Area, please help us conduct and support research that will tame PXE! Select PXE International, #95502. The 2009 campaign runs from 9/1/2009 - 12/15/2009. If you would like to hand out flyers in your workplace to ask coworkers to support PXE International, you may download the PXE CFCNCA flyers from the website. Thank you!
Statistics Moved to Website
The membership and website statistics formerly reported in this eNewsletter have been moved to the website.