If you remember a little over a month ago I had some genetic testing done (further than the breast cancer genes BRCA1 and BRCA 2 and the BART - which all came back normal) for the p53 gene to help explain my personal history of cancer at such a young age. Unfortunately, the test came back positive, meaning I am a carrier of the genetic mutation, which also means it appears I have Li Freumeni Syndrome, a rare disorder which only runs in about 400 families in the entire world. The syndrome makes you very susceptible to cancer.
The interesting thing about my test results is that while the test showed I do carry the genetic mutation, it doesn't appear on all of the cells. (usually it appears on all cells or no cells, but in my case, it showed up as a "mosiac" meaning it only appeared on some of the cells.) So while I AM a carrier, this test doesn't conclude where I have the mutation, and when I got it. So my genetic counselor is recommending further testing for me, and for my mom to be tested. The next test I do will determine WHERE the mutations are (cells, blood, etc.) and WHEN the mutation appeared. It can either appear at the time of conception, or shortly after birth. The purpose of figuring that out is to determine if I'll pass the mutation along to a child. Since Sean and I would like to have kids, I need to get this test done. If I carry the mutation in my eggs there are some scientific options for having a child. They could take my eggs out and analyze them, and only implant the ones without the mutation, etc. So there's that. My mom's test results will also help determine when the mutation appeared.
The second thing is, having this syndrome makes having more cancers in life a possibility, so I would have to be screened often for everything. Besides regular testing, I'd have full body MRIs, etc. I'll also be referred to a support group so I can find out about resources, and I'll also be participating in a study.
Until we have the second test results back, we won't know to what extent this all is, but my doctor said since my two cancers were completely different (Leukemia being a cancer of the blood and breast cancer being a cancer of the tissue) it's very likely the mutation is in all of those places, (blood, tissue, cells, etc.) as opposed to only one, which I guess it can be in some cases.
Anyway, this is all very confusing and there is so much more information, but this is what I got out of the conversation today with my doctor. It might not be 100 percent correct, but this is the best I can do in explaining all of this. As I learn more and more information sinks in, and after the second test, hopefully it will all become clearer.
The interesting thing about my test results is that while the test showed I do carry the genetic mutation, it doesn't appear on all of the cells. (usually it appears on all cells or no cells, but in my case, it showed up as a "mosiac" meaning it only appeared on some of the cells.) So while I AM a carrier, this test doesn't conclude where I have the mutation, and when I got it. So my genetic counselor is recommending further testing for me, and for my mom to be tested. The next test I do will determine WHERE the mutations are (cells, blood, etc.) and WHEN the mutation appeared. It can either appear at the time of conception, or shortly after birth. The purpose of figuring that out is to determine if I'll pass the mutation along to a child. Since Sean and I would like to have kids, I need to get this test done. If I carry the mutation in my eggs there are some scientific options for having a child. They could take my eggs out and analyze them, and only implant the ones without the mutation, etc. So there's that. My mom's test results will also help determine when the mutation appeared.
The second thing is, having this syndrome makes having more cancers in life a possibility, so I would have to be screened often for everything. Besides regular testing, I'd have full body MRIs, etc. I'll also be referred to a support group so I can find out about resources, and I'll also be participating in a study.
Until we have the second test results back, we won't know to what extent this all is, but my doctor said since my two cancers were completely different (Leukemia being a cancer of the blood and breast cancer being a cancer of the tissue) it's very likely the mutation is in all of those places, (blood, tissue, cells, etc.) as opposed to only one, which I guess it can be in some cases.
Anyway, this is all very confusing and there is so much more information, but this is what I got out of the conversation today with my doctor. It might not be 100 percent correct, but this is the best I can do in explaining all of this. As I learn more and more information sinks in, and after the second test, hopefully it will all become clearer.
This was very upsetting news for me. It basically changes my life. I'll always be on the lookout for other cancers, will have to worry about my future childen, etc. I wish I didn't have to deal with this now, just as I'm starting to get back to work, and just as I'm recovering from my last surgery, and emotionally recovering from the past 6 months which were some of the hardest of my life.
All I wanted to do now was focus on the wedding, and although this test isn't urgent and it's not an emergency, it is more stress and anxiety, and more things to think about, and huge life decisions to make:
Having babies, getting another mastectomy ...
All I wanted to do now was focus on the wedding, and although this test isn't urgent and it's not an emergency, it is more stress and anxiety, and more things to think about, and huge life decisions to make:
Having babies, getting another mastectomy ...
It's ironic to me that I would get this news on my first day back at work, my first day of getting back to "real life." Just as things are looking up and settling down. Just as I'm regaining my strength and my faith. Just as I'm excited again about the things to come. But I'll still be excited. Yes, this changes my life. This news really, really changes my life. But honestly, as devestated as I am, I'm not too shocked or surprised; I knew there was a chance of this. I chose to have the test done, and chose to get the results, and chose to deal with the results when they came. I invested in this. This was my choice. I already knew I got cancer twice before the age of 30. This doesn't change that or make it more or less true. What happened already happened. Now we're just trying to figure out why.
The good in all this - and there IS something - is that now I might have a reason for all this - something to explain my cancers, and with this knowledge I can take proper steps in my health , including screenings, etc. It's surreal that this will be a part of my life now, and even more surreal that this has happened, when it is so, so rare. Just like I take what I can out of every situation, and turn the bad into good with my past two cancers, I will do the same with this. I'll educate myself and be vigilant. It sucks, but I guess life sucks, and isn't always fair, and at the end of the day I'm still the happiest right now than I've ever been in my life, and nothing (not even two cancers and a rare disorder) can take that away from me. Even with this news today, I still have everything in the world - more than I could have ever hoped for.
The good in all this - and there IS something - is that now I might have a reason for all this - something to explain my cancers, and with this knowledge I can take proper steps in my health , including screenings, etc. It's surreal that this will be a part of my life now, and even more surreal that this has happened, when it is so, so rare. Just like I take what I can out of every situation, and turn the bad into good with my past two cancers, I will do the same with this. I'll educate myself and be vigilant. It sucks, but I guess life sucks, and isn't always fair, and at the end of the day I'm still the happiest right now than I've ever been in my life, and nothing (not even two cancers and a rare disorder) can take that away from me. Even with this news today, I still have everything in the world - more than I could have ever hoped for.
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