Chris here. Just a brief update before we get into Lauren’s awesome post about genetic testing and what we have learned going through this process. Lauren is down to five remaining chemo sessions. No new updates from Dr. Vandermolen at this point.  Lauren has been having a hard time with food trying to figure out what tastes good, or what agrees with her stomach.  We had a call with the nutritionist to see if she had any recommendations on caloric intake, protein, and what to eat more of, or avoid, when it comes to fruits and vegetables.  The nutritionist suggested Lauren try Kefir for additional protein, but that did not fare well. For the first time since starting chemo, Lauren’s stomach did not agree with it and we will just leave it at that. 

I have decided to take some time off from work to focus my attention on Lauren during the last few chemo sessions because there is no consistency with everything; that includes food intake, being nauseated, fatigue, etc.  I had to step away from the stressors of work temporarily to make sure my stress doesn’t fall onto Lauren because that more stress is the last thing she needs.  Overall, plugging away. Tuesday will be treatment 12 and we’ll share an update again soon.

411: Genetics – From Lauren

I thought it would be important to share what I’ve learned about genetics and genetic testing.  This is what I’ve gathered from discussions with a few different doctors and genetic counselors.  Keep in mind I do not Google anything unless I don’t understand a word, but nothing in regards to my Cancer, treatments or outcomes has been Googled and all of this information is what has been shared with me.

First, my mom, maternal grandmother and sister have all tested. First person tested was my mom, who we confirmed is the carrier of the BRCA gene. Once we confirmed that my mom has BRCA, the next people to test were my grandma (since my grandpa passed, we can’t test him!) and my sister. Having my grandma tested helps to guide which side of the family needs to be made aware of the results, either her nieces/nephews or my grandpa’s nieces/nephews.  My grandma and my sister’s results came back and concluded that they are both negative for the BRCA gene.  This basically means that my maternal grandpa was the BRCA carrier in our family.  Thanks grandpa, you really left your mark 

So, based on these results my mom will begin high screening for breast cancer more regularly than in the past and has already undergone a hysterectomy this week for preventative measures.  My grandma and sister will not do anything different in terms of screening since they are not carriers of the gene. 

Here is what I know/understand about the BRCA gene.

• You have a 50/50 chance of receiving this gene from your mother or father, if they are a carrier.
• If received, your chance of breast cancer goes from 12% (reminder that 1 in 8 women will get breast cancer over the course of their life) to 65-80%…holy shit! 
• If received, after a mastectomy your chances of breast cancer reoccurrence is about 1-4%.  I've heard of countless women who have had recurrences (different forms of their original breast cancer diagnosis), seems like stats change with research here pretty regularly and I did not ask those Women if they had mastectomies or not (I kind of don't want to know).  
• If received, your chance of ovarian cancer goes from 1-2% to 25%, again holy shit. However, if you’ve taken birth control for 5+ years your chances decrease about 50%…silver lining, but still high.
• If received and you have children, they won’t test your children until they are 18 because 1) let your kids be kids, but 2) kids do not develop these types of cancers, so better to wait until they are older and can make the best choice for themselves.
• If you do not receive this gene, you cannot carry it to your children, even if it runs in your family.
• There are 2 forms of the BRCA gene, 1 and 2. Each carry’s a higher risk for certain cancers.  I am BRCA-2, again making me more susceptible to breast cancer, ovarian cancer, melanoma, prostate cancer (not something I need to worry about!), and pancreatic cancer. You can only get 1 or 2, not both mutations…phew!  
• Even if you aren’t a Ashkenazi Jew you can still carry the BRCA gene, it just happens to be more prevalent in Eastern decent Jews for some reason. 1 in 400 people carry the BRCA gene and then 1 in 40 Ashkenazi Jews carry the BRCA gene. 

So all in all after everything I have learned about genetics and the BRCA gene, I have some very serious questions.

• Why in the hell does no one ask you about your family history when you are younger, say 18 when they should start testing, specific to genealogy?  Those forms you fill out at the doctor’s office talking about your family history are pretty lame when you think about it and think about the fact that no doctor (at least in my experience) really gets into the details - I wonder if they even read it once you fill out all of that paperwork!
• Why does no doctor educate you or explain these things to you when you start to go in during your young adulthood to explain these percentages and start to talk about genetic testing, let alone genetics, let alone the high rates of breast cancer in women?
• Why does it take me getting Breast Cancer to then spark a conversation with doctors to then have my family checked?  I mean, your welcome family for paving the way, but come on medical people….why put someone through all of this if you can prevent any aspect and lower their risks? I found this lump in December and no one thought to start genetic testing on me back then. It took 5 months and a positive breast cancer diagnosis for my surgeon to start these tests, I’m so grateful she did but how come my own gynecologist didn’t start these back in December? Oh, because I said no family of breast cancer?! We’ll, that doesn’t have to be the case, there are countless women who are the first in their families!
• They can remove or identify certain genes or medical conditions during pregnancy, why can’t they identify this one? Why can’t they remove it? 
• Life insurance policies won't cover you if you come to them after a diagnosis (they consider it a pre-existing condition), they consider these genetic results pre-existing conditions - how does that make sense?  I didn't choose these genes, so why punish me?!
• They say women are supposed to wait until they are 40 for a mammogram, but seriously?! Cancer obviously doesn’t know your age, case in point I was diagnosed 3 days before my 38th birthday and have talked to countless women who were diagnosed younger than me.  Granted my genetics have played a part in this and I am sure if I didn’t have these genes I would be on the path of annual mammograms starting at 40, but still. Which by the way, women if you have no history of Breast Cancer in your family and are not a BRCA carrier, get your mammogram at 40 and do it annually!
• Chris and I are in the process of looking for a new general practitioner and when I brought up my diagnosis to the doctor we were interviewing she asked me if I had any family history of breast cancer, when I told her no and how I was surprised no one did genetic testing sooner, she told me…’we don’t really have a reason to test if there is no history.’ Ok, fine, but again how come no one did more questioning to determine that based on my family history I would need to be tested and also lady, when this impacts 1 in 8 women in the US AND 1 in 7 women in Orange County you’d think something would be done? Needless to say, she isn’t going to be our doctor!

With all of that, these are all things I think about, ask about and want to continue to make others educated about because no one told me any of this until my diagnosis.  Just like I want to educate you on the realities of living with cancer and going through chemo, my hope is that what I’ve learned about genetic testing only gives you more ammo to either fight for yourself or fight for me!