Its time to give some blood for the Retinitis Pigmentosa (RP) hopeful cure. As expected, today I received the blood sample kit sent from Dr Jacobsons team at the Center for Hereditary Retinal Degenerations and Retinal Function Department, Scheie Eye Institute, University of Pennsylvania. After my excellent performance...ha ha, as seen in the picture, the blood samples are now on their way to the research center in Philadelphia. I’ve been informed, that this type of gene analysis is extremely complex and laborious. The results may not be available for several months. However, the molecular geneticists in charge of this research will be in regular contact with Dr. Sammuel Jacobson, my ophtalmologist. After my last facebook statement, some people, from PR and the US, have asked me to explain what exactly RP is. Thus, I’ve done some research in order to explain, in the most simplistic way, what is RP. RP is an inherited, degenerative eye disease that causes severe vision impairment and often blindness. RP is a form of retinal dystrophy and is caused by abnormalities of some retina cells leading to progressive sight loss. As an RP patient, I experience defective light to dark, dark to light adaptation and night blindness, as the result of the degeneration of the tunnel vision. The effect of RP is best illustrated by comparison to a television, computer or a cell phone screen. The pixels of light that form the image on the screen equate to the millions of light receptors on the retina of the eye. The fewer pixels on a screen, the less distinct will be the images it will display. Thats why RP patients need full brightness on these devices when using them. Eventhough, this degeneration is progressive and has no known cure, the reality is that institutions as the Fighting Blindess Foundation, the Scheie Eye Institute and many others institutional and Nobel Prize type scientists are in the search for a breakthrough. For example, Stem Cells are giving new hopes for the RP cure. By testing retinal cells, created from the Stem Cells in the laboratory, they link RP in two patients to mutate them. The scientists then use a virus to deliver normal copies of the gene into the retinal cells and restore their function. Thus, lets keep the prayers and the faith on Dr. Jacobson, his team and on the molecular geneticists in charge of my blood sample gene analysis. Thank you all.
Posted on: Tue, 04 Nov 2014 21:55:47 +0000
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