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26 May 2004 Genetic Testing I recently had the privilege of being genetically tested for Pachyonychia Congenita. I am one of the fortunate ones who was diagnosed correctly with PC as an infant. I've heard of many PC patients who for years went undiagnosed or misdiagnosed. However, since we started the PC Project, there was a little doubt that nagged in the back of my head which said, “What if it's not really PC?” After all, there are other disorders that mimic or are similar to PC. And there I was, and my family too, committing time and money to begin research on PC and what if I really didn't have PC at all?
Therefore, it was a privilege to be tested. The testing involved a simple withdrawal of blood at a nearby hospital. Once those first results came back, I was given a 'cheek swab' kit. which was easy to do in my own home. The results were explained to me personally so I could understand them.
Frankly, it felt great to confirm exactly what I have. I say that because whatever the diagnosis was, it would not have changed the fact that I have thick nails and sore feet. At least now I knew that we at PC Project are focusing on the right target. I also very much like knowing which specific gene is mutated so that the research can focus exactly on that specific problem. I hope you all have this opportunity and I am grateful to PC project for making this possible for me.
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