Yep! That would be my new name. As soon as I sign the paperwork, I will be also know as "patient #2"! I feel so...honored! Who would have thought that my relatively new found friend (that is not such a good "friend"), my mutated PAI-1 gene, would land me right in the middle of a research study?!?!? Please. Try not to be jealous. We can't all be blessed with genetic mutations. It was just luck of the draw. Or something...
Somehow, a really (and I mean REALLY) smart man found MY blog. When I got the bright idea to check my gmail account, I found a message from the Director of the Urology Research Center at the University of Toledo!!! Thankfully, this message was sent in February of THIS year!!! He has been studying PAI-1 deficiency and the plasmiongen activator system for years. His lab is "working on this disease and the application of VLHL PAI-1 (very long half life PAI-1) in this condition and other diseases as well." He goes on to say, that it was originally thought this condition was extremely rare...like only a few cases in the world. That could have really raised my mutation coolness to a higher level!!!! BUT...he quickly burst my bubble by telling me me he suspects it is more frequent that most people consider. I kind of knew that because I have been hearing that from all of my doctors. That, and I have met quite a few PAI-1 mutants since mine was discovered. It does appear there are quite a few of us roaming the earth. Don't let that scare you. We are really nice people.
Okay, seriously. As a part of his study, his lab would like to achieve the following:
1. Estimate how frequent it is.
2. Conduct test of human blood to establish standardized laboratory tests.
3. Find a cure for this condition. We think that VLHL PAI-1 might be used. However this can happen many years from now and such efforts are not always successful.
I am not writing this to toot my on genetically deficient horn. I am posting this because there may be other readers who have been diagnosed with a PAI-1 mutation. If you have been, and are interested in participating, please let me know and I will pass the info along to you as well. I know Dr. Jankun would appreciate your help, as a sample size of 2 would not hold much validity in the would of research. All that is involved with the study is a little paperwork and a blood draw. And for what it is worth, I never volunteer myself as a pin cushion. Never. But, for the sake of science, I thought this would be a great opportunity to help others down the road. Might as well use this lovely diagnosis for something good!
Daddy Daughter Dance
1 year ago