Sunday, November 4, 2012

More Research Studies!

At my most recent appointment with my oncologist, she mentioned an ongoing study that she thought I should think about participating in.
I met with the genetics counselor Friday to go over the details.

Basically, Dr. Mary-Claire King, who is the guru of all things BRCA, is doing a study called: Genomic Analysis of Inherited Breast Cancers.
Anyone who was under 40 at the age of invasive breast cancer diagnosis and had BRCA testing and/or has triple negative breast cancer is a candidate.

By giving a blood sample, it will be tested for currently known breast cancer genes, as well as about 20 others genes that may not be implicated in inherited cancer yet.
They are working to find out what genes these people have in common. I think it will be a good indicator of predicting future cancer risks at younger ages. We need all the research we can get, right?

This study may or may not offer me any more information on why I was diagnosed with breast cancer at a young age, with no family history. It may offer me information on genes I have that have been known to cause other types of cancers.
The genetics counselor said that some people choose not to do the study because "ignorance is bliss."
I think knowledge is power and I want to know everything that can be known about what's going on in my body.
It may take up to 6 months for my results.

During this same appointment, I banked some DNA.  For $95, my DNA will be stored at Prevention Genetics for at least 20 years. If my family ever has health issues or concerns and I'm no longer here, they can request my sample be pulled and analyzed. I'm completely intrigued by this whole process of banking things.

If this day wasn't already exciting enough, I had an appointment with my cardiologist to go over my recent echocardiogram. My ejection fraction is still 45%. It's not hot, but not terrible. It hasn't changed at all since my last echo six months ago. He upped my metoprolol and said I should come back in a year.

While there, I asked when I could have my kids checked to see if they inherited my left ventricular non-compaction. He said there is actually a study ongoing currently and if I wanted to be a part of it, they would do all my genetic testing for free and possibly my blood relatives if I had certain genes. Bonus!
This condition is really rare and there's not much research yet, so I'm glad I can be a part of the study.
Fingers crossed this is just a birth defect and I didn't pass on wonky genes to my kiddos.

Long and boring update.....
looking forward to my lipo and rounder boobs 12/20!


  1. I think this a really selfless thing you are doing with the study,happy Dolly,s on the 20th,Love,Dad

  2. Only 2 more days!!!!!!!!!!!!!!!!!!Love,Dad.

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