Hey Lovely Ladies,

I’m pretty sure at some point in the past year I have freaked out to you about my Aunt’s and Dad’s BRCA 2 status. I just found out that I am indeed also a carrier of this gene. I’ll get to what this means for me in a minute.

This email is really really long with lots of details and reads like short hand for biology class, but I know some of you want the details and it’s exhausting to talk about so I figured this was the easiest and most efficient way to share the news. No worries if you don’t want to read the full thing or if you don’t really care about the details. I just wanted to put them out there so I can be done with it! If you are not going to read the full thing, go ahead and skip to the last link which is hilarious:)

BRCA 2 is one of three genetic mutations that are known to be associated with high likelihood of breast and ovarian cancer.  BRCA mutations are very rare in the “normal population” (about 1 in 200) but “more common” (about 1 in 40) in people with Ashkanazi Jewish ancestry.

BRCA genes function as tumor suppressors. As we age and our cells divide over and over again some of them get out of control, this is normal and is the early stages of cancer. Normally you have two working genes that find these and get rid of the growths before they become a problem (either spreading or fing with the function of the cells that got out of control).

When you have a mutation to one of your BRCA genes (there are two of them known as BRCA 1 and BRCA 2) that means one of your tumor suppressors does not work and your likelihood of cancer is increased. These mutations can actually be traced back to a few hundred years ago during all the inbreeding in the European Jewish Ghettos  (insert Jew Joke here please). As my Dad’s side is 100% European Jew, I fall into that category. As you probably know, 7 years ago my Aunt Paula was diagnosed with Breast Cancer and unfortunately this year she was diagnosed with Bone Cancer (which is connected to her breast cancer). She is doing so-so and has the best medical treatment available.

About a year after her breast cancer diagnosis one of her doctors made the connection that she is Jewish, so they tested her for these known genes. Unfortunately, she had one. If she would have known this information at the time of her breast cancer diagnosis they would have treated her differently and she may not have bone cancer today (but the entire genetic aspect of medicine was in it’s early stages seven years ago). My dad later got tested, and unfortunately he had it to. As far as his health, there are some consequences but they are not nearly as scary as they are for a women, but he needs to get on top of some screening too. My grandpa, who is 84 has the gene and I hope my dad and myself will be as healthy as he is at 84!

For me, this means that I had a 50% chance of receiving the gene from my dad and a 50% chance of not receiving the gene from him. Just a flip of the coin, whatever sperm got there first. We found out he had the gene a few years ago. In that time I went ahead and got life insurance as there are no laws protecting that information from affecting my ability to get life insurance, and if I have the gene I sure as hell want life insurance. Someone who has a genetic mutation but not cancer is not considered to have a pre-existing condition, so there are plenty of laws protecting  from discrimination for health insurance and employment. If I have to change health insurances in the future, there should be no repercussions from this information.

So about a month ago I was finally ready to find out (for me knowing “I might have it” seemed worse than knowing “I have it” because at least I could put my worry to use – plus 25 seemed to be the magic age of beginning screening if needed) so I met with a genetic councilor. I then had to get my blood drawn. The results came back last week but I really wanted Mike to come with me for the results so we waited until this week so we could both go to the appointment (his work schedule was insane last week).

Last week I was a mess and lost it a few times, as I was grieving the hope of not having it, which I have been holding on to for a few years. But a few days of anxiety made hearing the news a lot easier, because I’m ready to just get on with it. Mike was amazing and even held my sweaty hand the entire 2 1/2 HOUR appointment. Well a few times he took a break and rubbed my back….but normally he can’t handle the sweat after about 5 minutes….so if that isn’t a sign of support I don’t know what is! LOL.

During the appointment Joann went over all my options moving forward. There are a lot of decision I will have to make in the future, but don’t have to deal with them now. So I’m not going to. Especially because in ten years time cancer medicine and screening may change, so hopefully I’ll have more options to choose from.

Okay – so having the gene – what does it mean? It means that my LIFETIME risk (so by the time I’m 80) of having breast cancer is up to 85% (normal population is 7%) and my LIFETIME risk of having Ovarian Cancer is 15-30% (normal population is <2%). With Breast Cancer, many of these cases are younger and more aggressive and occur in your 30’s-50’s which is why it is rather scary.  As these numbers are only numbers a gambling addict would take, there are steps you can do to catch cancer early or reduce the risk. Even so, having the gene does not mean I will get cancer.

Because I’m young and want to have children someday (which now really should be completed by the time I’m 35 – possibly 30) my options are to begin breast cancer screening every six months. So pretty much my boobs are going to be getting a lot of unwanted attention by people other than Mike. I will start with mammograms, but it is likely they won’t be able to read them because young people often have dense breasts (and does anyone remember the story of Lannie D. and I trying to weigh our boobs in 8th grade….we know they are dense!). If the doctors decide they can’t read the mammograms I will instead be getting breast MRI’s every six months. This will continue forever OR until they find something OR until I decide to have preventative surgery (at this point that is not on the table for me, but was told that my views may change as I get older).

So my next steps are to meet with both an oncologist gyno and an oncologist breast specialist. They will take a lot of baseline tests so my doctors can use that information in the future if things go funny. They will also keep me up to date with all the latest information and options and get me set up on a six month screening schedule that will hopefully not interfere with my life too much.

I also need to start getting annual dermatologist check as there is a slight connection between the gene and higher risks for melanoma. As that is a simple one over from a doctor, it is easy and not that big and hell we should all be starting to get our skin checked from time to time.

Another FYI – Currently, the recommendations for women who are 35-40 and done having children are to have your ovaries removed as the lifetime risk of ovarian cancer are somewhere in the 15-30% range and the current screening options are not reliable (but MOST, a big most, of these cases do not happen until 50+). Since that decision is 10-15 years away, hopefully the screening options for ovarian will be improved and I’ll have more options to choose from. Like I said, I get really overwhelmed when I start thinking about all the possibilities in the future, and do not want this information to define me. To deal, I’ll just understand what is important for the near future at this time.

The other thing that is on my mind is that science is now to the point where if we wanted, I could ensure I don’t pass this gene on to my children through invetro as it will be a 50/50 chance that I pass it on to each of my future children. I have no idea how I feel about this,  but will learn about it from the specialists I need to meet with over the next few years and go from there.

So I think that is all for now. I hope to never need to give another update on this and that I just become really good at knitting and keeping up on my Celebrity gossip while I’m waiting at the doctors office every six months.

If you want more info or have others in your life that may be affected by hereditary breast and ovarian cancer this is a valid resource http://www.facingourrisk.org/

I will leave you on a good note with a hilarious bit by Louie CK http://www.youtube.com/watch?v=YVyywf8PZRo (which after making it through this ridiculously long email you deserve). This is pretty much how I’m feeling but insert boobs for ankle.

I know you all Love me and if I need something from you, I’ll ask for it:)

Lots of Love,

Jessie

#BRCA #BRCA2 #EmailToFriendsNFamily