Gene Who?

   Last week I had an appointment with a Genetic Counselor.  Community Hospital provides this services complimentary with a breast cancer diagnosis.  I knew ahead of time that they would be asking a lot of family history questions, so I came prepared.  Not only did I bring my mom along, but I did my research ahead of time.  My mom has 6 siblings, and my dad has 2 siblings, with a total of 15 cousins...so I had my work cut out for me.  Between my parents and I, we emailed, called, or text every family member.  We had to ask them about anything they have ever been diagnosed with and at what age they were diagnosed with it.  Of course, we also needed to know about my deceased relatives, so we inquired about them too.  I made a branched family tree (thank you college genetics class) for each side of the family (maternal and paternal), and slowly began to fill it in.  What I didn't realize was that they had mailed me a packet to fill out before the appointment, and all this information was to be filled out again in the packet.
   So, with mom and family history in tow, I headed to the appointment, not sure what to expect.  I met with a young women (about my age) named Kaylee.  We talked extensively about genetics and how they play a role in cancer, the different ways my genes could have contributed to my cancer, and they types of genetic testing I could participate in.  The appointment lasted just over an hour.  My insurance will be changing at the beginning of the year, so we must wait until then, so see if I can get coverage for any genetic testing.  But until then, I was sent a letter summarizing our appointment.  I will share some of what it said.

"We discussed that at least 60% of all cancer cases are sporadic, meaning they are not passed from parent to child and are due to genetic changes in the cell thought to be caused by environmental factors.  Familial cancers account for approximately 20-30% of all cancer cases and are characterized by multiple family members affected with similar cancers.  Familial cancers are caused by a complex combination of both genetic and environmental factors.  Hereditary cancers account for 7-10% of all cancer cases, and are due to an inherited mutation in a single gene that can be passed through families.  Cases of hereditary cancer can be present in multiple generations on one side of a family, are characterized by bilateral or multifocal cancers that are exhibited at younger ages, and show specific patterns of cancer in blood relatives."

"Ms. Raper , your family has characteristics that indicate that you may have a hereditary form of breast cancer.  You have a personal history of melanoma at age 30 and breast cancer at age 31, a paternal first cousin once removed with breast cancer in her 50s, a paternal great aunt with breast cancer in her 70s, and several family members with a history of melanoma.  Multiple instances of breast cancer in a family, breast cancer occurring before menopause, and multiple cancers in the same person are  concerning for hereditary breast cancer.  Additionally, while skin cancer is a common cancer to observe in families, but having multiple individuals with breast cancer and melanoma in a family is concerning for hereditary breast and ovarian cancer syndrome."

   There are two types of genetic tests out there that I can choose to forgo (I have already done the BRCA1/BRCA2, which was negative).  These two tests are called BreastNEXT and BRCAPlus.    The BRCAPlus would only look at 4 other high risk breast cancer genes that would provide clinically actionable information.  This means that if any of these genes show mutation, I have another cancer or syndrome that caused my breast cancer, which would need to be treated.  The BreastNEXT test would look at a total of 16 genes for any mutations.  However, with either test the results could be positive, negative, or a variant of uncertain significance (which is a change in one of the genes tested that has not yet been classified as benign or disease-causing).  So, let's hope and pray that my insurance will cover at least one of these tests, because it could potentially give me life-saving information.

FAMILY: "Ms. Raper, although we know that you do not carry a mutation that can be found by sequencing and rearrangement testing of the BRCA1 or BRCA2 genes, your female relatives warrant increased surveillance for breast cancer. We recommend that women in your family have annual mammograms beginning at age 25.  Typically, the recommendation is to begin mammograms 10 years prior to earliest age of diagnosis in a family; however, we do not recommend mammograms prior to age 25."

Feeling Better

  Tuesday I had my follow up post-op appointment with the Plastic Surgeon.  He said everything looked good and he was happy with the results.  To my surprise he said I wouldn't need to see him again for 3-6 months!  I told him about the pain under my right breast, and he said "I told you it was going to hurt there."  Yes, he did!  And I'm thankful he told me that in pre-op before I was all looped up on meds, so that I would remember.  Otherwise I would have been concerned about why it hurt so bad, which is what happened after my mastectomy.  I was in so much pain and I didn't know why.  I didn't know if it was normal pain or something to be worried about.  No one prepared me for that!
  He said that he added some extra dissolvable stitches under my right breast to lift it up, and because of that I'm not to stretch, reach, or lift with my right arm for another month.  Because of my job, that means I can't return to work for another month.  I anticipated being off for a month anyway, so hopefully my return date will remain the same (Jan 4th).  It will be nice being off during the holidays.
  Today, (12/14) I am pretty much pain free, and not taking any pain meds.  Usually by the evening I will start to hurt some, but overall I'm feeling pretty good...8 days post-op.  I can now put my seat belt on for myself, shower myself, dress myself, and sit up in bed by myself (still hurts a little).  I'm still not driving and need help putting on my coat.
  The great thing about my mastectomy is that they were able to do nipple-sparing.  Which means that they didn't have to remove my nipples (which is done in a lot of cases).  This is great because now that I have the implants, my breasts look completely normal.  The incisions were made under my breasts along my chest/rib area.  Once the scars are healed, you won't even be able to tell I had cancer/mastectomy/implants.  This is also why I'm not posing pictures LOL!
  I've come to realize recently that I'm actually a very lucky woman.  Sure, I got breast cancer at the age of 31...that sucks!  I had to go through chemotherapy, got really sick and lost my hair....that sucked!  BUT, through hearing other women's stories, I realize that it could have been MUCH worse.  I could have been stage 4, I could have been triple negative, they could have removed my nipples, I could have needed radiation, I could have gotten an infection and had my implant(s) removed, I could have had a much more rigorous chemo regiment, there could have been complications anywhere along the way....and NONE of this happened to me!  With God on my side, all things are possible!  I truly believe that everything happens for a reason, and although I haven't discovered the reason for this yet, I know it's a big important one :)

The Twins

   Right in the middle of a good ol' Indiana Winter Storm, I headed to the surgery center and checked in at 9:05am.  We passed a slide off and multiple salt trucks on our way.  The roads were icy and we had to take it slow.  I was praying that my surgeon was going to make it on time, so my surgery wouldn't be postponed or cancelled.  Shortly after I checked in, they took me back to the pre-op room, where I went through all the medical history questions and they accessed my port.  Once I got into the lovely gowns and hair net, everyone came to visit.  First, my Navigator Nurse Sharlee.  She came to say Hi, introduce me to the new Navigator, and wish me well.  Then, my parents were let back.  Then, the Anaesthesiologist paid a visit to go over what he would be doing and what I should expect with the anaesthetic.  Lastly, my plastic surgeon arrived, marked me up for surgery and explained what he would be doing. Finally, an OR nurse came to get me and walk me back to the OR. 
  On the way back, she asked me what I would be doing if I wasn't there getting surgery.  I said I would probably be working.  So, naturally she asked what I do. Of course, she thought a CSI was cool and when we entered the OR, she told all the others in there that I was a CSI.  To my surprise, one of the other scrub nurses (Inna) remembered being in on my last surgery.  She said " it had to be you. How many other female CSIs are in Indy?"  We all had a good laugh about that.  Another funny thing I remember was the Anaesthesiologist was wearing a winter coat under his white lab coat in the OR, but to his credit...it was FREEZING in there.  He had it on when he paid me a visit in pre-op, but I thought he would take it off for surgery.  Nope. LOL.
   After 2.5 hours I woke up in recovery.  I was wearing a compression bra and had ice packs on my chest.  I stayed in post-op for probably 3-4 hours.  I was really wobbly when I finally got up to get dressed, I felt like I was learning to walk for the first time.
  The surgery went well.  The surgeon was able to remove a lot of scar tissue around the incision sites, and said that he didn't see any scar tissue behind the expanders (which is good).  He was also able to lift up my right breast, which was lower than the left after the mastectomy.  But because of this extra reconstruction, I am in a lot of pain under my right breast.  I describe it as feeling like I've been stabbed and then repeatedly punched in that area.
  I'm recovering at my parent's house now and will be here for probably 2 weeks.  I am very sensitive to pain medication and I'm having trouble managing the meds.  They prescribed me Dilauded, but I don't get much relieve from that.  I had Percocet left over from the last surgery, which helps tremendously with the pain, but it gives me a headache and makes me nauseous.  So, I think I'm going to try taking a strong dose of Tylenol and see if that works.  I was nauseous all day Friday, yesterday, and this morning because of the pain meds.  Today, I haven't taken any prescription pain meds yet.  (It hurts SOO bad when I vomit because of the stitches, so  I want to give my body a rest)  I feel the least amount of pain when I'm laying down, so I've pretty much been planted on the couch.