So I wanted to update people about what is going on. I am having surgery tomorrow for a reason completely unrelated to my recent hospital visits. This requires some background. I have a (primarily Ashkenazi) Jewish genetic disorder called Gaucher (pronounced Go-Shay) disease. I am missing an enzyme called glucocerebrocidase that breaks down fatty acids in my bone marrow. I was diagnosed with this when I was two years old and I have gotten IV enzyme replacement therapy, in my home, every other week for the last 17 years, and I will have to do this for the rest of my life. To make this possible, I had to have a port-o-cath (port, for short) placed. A port is a little rubber stopper placed under my skin with a line or catheter of sorts that runs up my chest and into the main circulatory system near my heart. That way the medicine gets a superhighway to my bloodstream. Thanks to my incredible mother, I have never missed a dose of this medication-even when there have been shortages-and I have NEVER known what it is like to be sick with this disease. In recent weeks, my port has slowed down/stopped working properly. Tomorrow, I have to get it removed and replaced. Ive had this done before but the last time was almost 10 years ago. The only thing that makes me nervous is that 10 years of having something embedded in your system can mean scar tissue may have formed, making the whole thing difficult to remove. Despite my hesitations, I have an incredible surgeon with an incredible team who have operated on me before and Im sure they will do it again. All that said, Im not worried and I dont want anyone else to be worried. For the disease I have, this surgery, though it doesnt happen often, is routine. Itll take the week to recover but I should be back on my feet and back at work around this time next week. What I want to do more than anything is raise awareness about Gaucher and other primarily Jewish genetic disorders that many people dont know about. Thanks for giving this wall of text a read and if you have any questions about Gaucher or genetic disorders or port-o-caths or IVs or anything else, Im happy to answer to the best of my ability. Thanks to the wonderful friends and family that I have for all their love and support
Posted on: Sun, 19 Oct 2014 15:17:01 +0000
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