Saturday, June 21, 2014

BRCA and Genetic Testing

What would you do if you had an opportunity to learn a piece of medical information about yourself that years ago, was not even an option? What if that information told you that in your lifetime, you had a high likelihood, or even a possibility, or having a certain type(s) of cancer? And finally, what if knowing that information required that you make life-altering decisions about what to physically do with your body?

This is the case for many women who are faced with the question of whether or not to undergo BRCA testing. The BRCA 1 and BRCA 2 genes are genes that we are all born with. If there is a mutation in either one of these genes, it indicates a condition called Hereditary Breast and Ovarian Cancer (HBOC) syndrome. This is a condition that is genetic and is acquired through birth, when the mutation is passed down from either parent; it does NOT have to come from the mother. If a person tests positive for this mutation, it substantially increases their risk for breast cancer, ovarian cancer, and in certain families, pancreatic cancer. Males with the mutation are at a higher risk for male breast cancer and prostate cancer.

Now, only about 5-10% of cancers are genetically related, however I have a mother who was diagnosed with Stage 2 ovarian cancer at age 44 and then breast cancer at age 62. She had an aunt who had breast cancer. Genetically related cancers tend to be diagnosed at a younger age, under the age of 50. We know that mammograms and self breast exams are very useful in detecting breast cancer, but ovarian cancer has been called the "silent killer" because it often does not produce symptoms until the disease has progressed. My mother was lucky; she went to her annual exam, was found to have what was thought to be problematic fibroids, and subsequently underwent surgery for those fibroids.

Except, they were not fibroids. They were tumors. She proceeded to have a total hysterectomy at the age of 44. She survived that, with surgery and chemotherapy, and then also survived her breast cancer diagnosis, which was treated with a lumpectomy and radiation.

When I was in my late 20's, my oncologist (I had Hodgkin's Lymphoma when I was 24) suggested genetic testing/counseling for the BRCA gene. I went to the counseling, had the crap scared out of me, and decided not to have the testing at the time. I didn't want to know that kind of information (the statistics for BRCA positive women are staggering), and I knew that if I tested positive, I would not have the recommended surgery because I wanted to have children. The recommended surgery for BRCA positive women is to have the ovaries removed. Total mastectomy for the breasts. The option to surgery is increased surveillance of the breast with mammograms and MRI's every six months. For the ovaries, there is no proven detection method, although sometimes a blood test and ultrasound can help.

Down the road, I was in my late 30's when my mom was diagnosed with breast cancer. I clearly remember her oncologist looking me straight in the eye and telling me I should have the BRCA testing done because of my risk. It still was not the right time.

Now I am 43 years old. And this risk for ovarian cancer thing has been weighing heavy on my mind since last year, probably because I am almost at the age my mom was when she was diagnosed. Actually, it has been on my mind since that first genetic counseling appointment all those years ago. Although I have been getting regular mammograms for quite some time now, due to my chest radiation history because of the Hodgkin's, there is no reliable testing for ovarian cancer, with the CA-125 blood test and transvaginal ultrasounds being hit or miss at best.

So all of this brought me to my regular gynecologist who then referred me to a local oncologist and finally an appointment was set up with a genetic counselor from Massachusetts General Hospital (MGH). My oncologist is located at Cooley Dickinson Hospital in Northampton, MA, which is a small community hospital, and they are affiliated with MGH, which has a comprehensive genetic program. I had to wait months for the appointment and then I got an unexpected call two weeks ago that there was a cancellation last week, which moved my appointment up by a full month. I took it.

My husband went with me to the appointment last Thursday and we met with my genetic counselor, Michelle. She was absolutely fantastic. She took a detailed family history and confirmed that yes, having BRCA testing done was indicated. What I didn't expect her to say was that there were other genes I should probably consider testing for as well, including the p53 gene and the p16 gene. Folks, I will be honest. I am a nurse and I didn't even know there WERE other genes! The p53 gene was because of the history of leukemia/lymphoma in my family. I have already had lymphoma, but I would know if I was then also susceptible to sarcoma, breast cancer, brain tumors, and about six other cancers.

The p16 gene was suggested because my dad has had melanoma and my uncle (his brother) died of pancreatic cancer, both of which can be correlated to this gene mutation. Here's the problem though, if you find out you DO have these other two genes, there's not much you can do about it, except that you are aware of it and your doctors can be more alert to changes with you. Some doctors will suggest routine endoscopic ultrasounds and MRI's for the pancreatic cancer and skin checks by a dermatologist for melanoma, but it's not like you can remove your pancreas or anything. These two tests would be included in  what is called a multi-gene cancer panel, which tests for all the genes known to have a cancer connection.

Cost: $5000
And my insurance, Medicare, does not cover ANY genetic testing for me because it is considered preventative.

Michelle also told us that this gene testing list is constantly changing as new genes are being discovered. She did not seem to feel that the risk for me with all these other genes was high. I did not feel that at this time, it was information I wanted. Yes, I wanted to know my BRCA status, mostly because of the higher risk, but also because I can concretely do something about if it comes back positive. She also told me I didn't have to decide that day; the option would always be there if I changed my mind. On that day, it was too much, both emotionally and financially, and I opted out.

The good news is, there used to only be one lab that ran these BRCA tests, Myriad. Michelle told us that they no longer are the sole owners of the patent, and that other labs are now doing the testing as well. The cost for us, as it would not be covered by my insurance, would be $2500. However because these labs are now in competition with each other and want your business, they will oftentimes run it for free for a person if not covered by insurance, minus $100. That decision will be made probably within the next week. They will start running the test, and if for some reason are not going to cover the cost, they are mandated to call me and ask me if I want them to continue running the test (which we have decided will happen) as a self-pay, or stop the test. If they are NOT going to cover it and do not notify me by phone, they must pay the cost of the test. Michelle felt that most likely, it would be covered, so now we wait to see if the phone rings...

While talking with Michelle, I almost changed my mind even about the BRCA testing. It is quite a complicated thing, this BRCA business. For example, for her own personal reasons, my mother has decided NOT to get tested, so we don't know her status. If I end up being positive, it looks likely that is came from that side of the family because of her cancers, but we don't know for certain. If I come back negative, it doesn't mean our family does not have the BRCA gene, because I could have gotten lucky and been in the 50% that don't inherit it.

Here's the part that almost changed my mind: If I come back positive, it means that we now know BRCA runs in our family. This means that my parents, brother, aunts, uncles, and cousins on the side of the family it came from, ALL have a 50% chance of inheriting this faulty gene.

When this dawned on me, I clarified this with Michelle, looked at Chuck, and we both realized the same thing, at the same moment: my getting BRCA testing with a positive result would mean that all my family members would have this knowledge, whether they wanted it or not.

I have to say, that was one of the worst feelings in the world, ever. And of course, I started to cry.
This is the type of thing that can really mess with your head.

As we talked more with Michelle, I began to realize that this is not my fault. It is not my mother's fault. It is not her parent''s fault. It is NOBODY'S fault! This gene has been around forever, literally. Yes, now we have the technology to know these things and be more proactive which raises up the question of how much knowledge is too much?

I came to the conclusion during this appointment that for me, I need to have this BRCA information, not just on an emotional level, but for the sake of my survival. It is not very common for a woman, like my mother, to get ovarian AND breast cancer in her lifetime, especially at a younger age. The general population has approximately a 1-2% risk of getting ovarian cancer in their lifetime. A person who is BRCA positive has up to a 60% chance of ovarian cancer...a cancer that is typically detected AFTER it is too late. The general population has approximately a 10% chance of breast cancer in their lifetime. My previous radiation history already increases that risk. A woman who is BRCA positive has up to an 87% risk. Those are numbers that I cannot ignore, especially after having already faced cancer once in my lifetime.

The questions that BRCA presents are complicated and messy with no right or wrong answers. The only answers are the ones that are right for the individual, at that particular time in their life. So the best we can do, is get educated, make informed decisions, and pray for the best outcome.

Wednesday, June 18, 2014

Finding My Way Back To Nursing

My entire life I have have either wanted to be a nurse or have been a nurse. I don't remember the exact time and place of when it became so apparent to me that this is one of the things I wanted to do with the rest of my life, but I do remember the desire being there from an early age. My mom is a registered nurse (RN) so from as far back as my toddler days, it was ingrained in me what a noble and worthy calling this profession is.

I graduated from UMASS Amherst in 1993 with my BSN and proceeded to work several different nursing jobs over the course of the next fifteen years. I worked on an inpatient adult psychiatric unit, I worked for a home care agency jumping around from the psychiatric specialty to adult medical surgical, and then finally, into maternal child health. My dream job came though in 1999 when I began working as a pediatric nurse at a children's hospital. I would stay there for ten years, working on the same unit, day in and day out.

My last day of work there was November 8, 2008 and I was officially "let go" in March 2009. I use the term "let go" because I don't know what else to call it. I wasn't fired as I had done nothing wrong; I was an excellent nurse. I didn't quit either. However, my autoimmune battle had been going on for over a year. I had used up all my sick and vacation time. I was on short-term disability, but since I had used up my allotted FMLA leave, which in Connecticut is a generous sixteen weeks, my job was no longer legally protected. So if you don't think it can happen to you, trust me, it can. No job and no health insurance. I was fortunate to be making sixty percent of my income on short-term disability. When I asked if they could hold my spot at the hospital, I was told they could not because my position as an admission nurse needed to be filled to provide optimal patient care. I could reapply for a job in the future, but I would start all over as a new employee and I would lose my ten years of seniority in regards to my pay scale, etc. I found out later that my position was never filled.

Over the course of the next several years of battling Sjögren's syndrome, I could not work at all, nevermind as an RN. I was devastated in 2010 when, while being evaluated for SSDI, a medical professional told me I would likely never work as an RN ever again.

Life over.

But as you all know, my life was not over. I became a writer and even though until very recently, I was not earning any income from it, it felt like a calling to me; in a different way from being a nurse. But, I always missed nursing. I didn't miss working the 36-40 hours/week as I knew my body could not withstand that type of physical activity, no matter in what capacity. However as I started to learn ways to cope with my illness and as I found different alternative treatments to help manage my symptoms, I couldn't help but wonder if someday, I could go back to doing some type of nursing again.

Around 2012, I started seriously investigating different types of nursing jobs and what kind of schedule I might be able to work once I was physically able to do so. I pretty much came to the conclusion that due to the unpredictability of my illness, working any type of set schedule would be impossible. Hence, partly why I was deemed permanently disabled by the government. But, I came to the conclusion that I was never going to let this be permanent. I was going to work someday, somehow, as a nurse again.

Between 2012-2014, I continued to work hard on getting some of my symptoms under control and by the end of 2013, I had made a decision that trying to find a job as a substitute school nurse may be the best path for me to take. I had never worked as a school nurse before and since the day I graduated nursing school, I have always wanted to. However back then, I needed the pediatric experience and then once I got that, due to personal circumstances, I found it impossible to leave my hospital salary for one of a school nurse. Now though, my situation was completely different and I had learned the hard way the importance of choosing happiness over money.

I started scouting local job postings with the intention of applying for a job starting in the fall of 2014. However with all the hoopla of Tales from the Dry Side being published and all the marketing I had to do, it made me realize that I was ready now to embark on this challenge. I was physically ready to take on the responsibility, or at least try. I had also been scouting local school websites because I was looking for a smaller school district. It had been 5 1/2 years since I had worked and I didn't want to overwhelm myself, especially since stress is the fastest way to aggravate my symptoms.

I came across the website for a small town adjacent to the one I live in and it said they were always accepting applicants for sub nurses. It was interesting that I found this the same day that I was going to apply at two other school systems. I called, spoke with the nurse leader, and scheduled an interview.

I never sent in my applications to the other two school districts.

I knew within five minutes of my interview that this was the place for me. I cannot quite put my finger on it, but I loved my supervisor and I met one of the school nurses, who happened to be a former co-worker of mine from my former home care days. Seemed like it was meant to be I guess you could say. I was hired and finally employed after 5/12 long years.

I had three days of orientation, working in each school with the regular nurse. After that, my schedule varied. Although I am a sub, I often get pre-scheduled for days when I don't have medical appointments, etc. I probably average about three-five days a month between the three schools and that is perfectly acceptable to me. Once in a while I will get a last minute call to come in and work, just as any other substitute does. I have learned to start scheduling my medical appointment first thing in the morning or late in the afternoon so that i can be more available for these last minute calls, but it is still a work in progress.

Going back to work has been one of the best things I have ever done for my illness. It has also been one of the hardest. The rumors about a school nurse job being easy are completely untrue. They work hard. I work hard. First off, as I mentioned, I have never been a school nurse and it is a completely different animal than any other type of nursing. My acute care experience has been a huge asset to me and I was surprised, after so much time, how easily it came back to me. However your approach is very different. These are not sick kids coming onto your turf so to speak. They are relatively healthy kids and you are in their environment. Granted, there are some kids with chronic illnesses that have special needs, but still, it is very different.

The change in nursing specialties has meant a lot of time online researching situations that I am not as familiar with. It has been a big learning curve for me and with that, has come some stress and anxiety. Trying to retain all this new information and learning the ropes for three different schools in a short amount of time is exhausting when you already experience unusual fatigue on a daily basis, as well as pain, issues with your eyes, etc. My days at work are very unpredictable. Sometimes I feel like I am running a walk-in clinic or a little mini-emergency room and I need to be on my game. There have been days where I have woken up and checked in with myself because of how lousy I feel. The question I have to ask is: will this just be very hard for me or will I not be a good nurse today? So far the answer has always been: it will just be very hard for me. I have continued to be the incredible nurse I have always been, disability and all.

So how do I do it? How do I move past the pain, fatigue, eye issues, organ complications, etc. to physically get through a 6 1/2-7 hour day? Well to start with, I am a substitute. Going back to work has made me realize that although I am striving for a goal of being able to regularly work part-time, I don't ever see myself working full-time. It takes a lot of preparation and recovery for me to work one or two days in a week and I do look forward to the weeks where I don't work at all because my body needs a break. Besides medical appointments, nothing else gets scheduled during the week, and sometimes that even includes weekends, if I know that I will be working. I always make sure that I have appropriate lunch foods ready to go in the fridge and clothes ironed in my closet in case I get called. I have gotten myself on a regular sleep schedule of 10pm-6am, which actually has done a lot for my insomnia.

Since I usually have a heads up for when I am going to work, I do nothing but rest most of the day before and it usually takes me one-two days to recover. It has meant missing out on some social activities, especially in the evening. If I happen to work back to back days, which does happen from time to time, my whole week is devoted to just work, making meals, and rest. I keep waiting for it to get easier for me physically. Stress wise, it has gotten much easier since I am now comfortable with each school, and have started to get to know the kids and how things work. But the physical aspect is a whole different story. I do not exaggerate when I say that I typically come home from work, let the dog out, change my clothes, go to the bathroom, and collapse into my bed for the rest of the day. I always have dinner prepared in advance or my husband knows he is in charge of dinner that night.

I also am able to work because I have a strong support system. My fellow nurses are such a great group of people, my supervisor is incredibly supportive, and I feel like it is a team environment. I have friends and family who keep cheering me in, especially in that first month when I was trying to get my body to adjust to being out in the workforce again after so many years away. I have this fantastic husband who rubs all my aching joints, makes sure we have clean underwear during weeks that exhaust me, serves me supper in bed, and tells me how proud he is of me. It all truly does make a difference.

I think probably the most important factor in how I get through my work days and why I keep working is this one simple fact: I absolutely love my job. Like head-over-heels love my job. I remember the first time I walked into the elementary school for my interview (I have never had kids in school!), looked around, and felt like a school was the best place in the world to be. So much learning, so much potential, so much LIFE! I love working with kids in a school environment; so many challenges and ever-evolving. I enjoy the different challenges in caring for a kindergartner versus a senior high school student. I love being able to help them manage their medical needs in order to maximize their learning potential. I love soothing a scared child. I love the one on one interactions that so often got neglected when working in the hospital. I enjoy the unpredictability of my day. I love knowing that I make a difference.

This job has ended up being so much more for me than a once a week or so obligation. It has been a chance for me to care for children again, to use my brain and my analytical skills, to be a part of the rhythm of life again.

My last day of work this school year was yesterday, approximately four months after I started. I know I don't work forty hours a week, but I made it to the end of the school year without one sick day, although yesterday was a very close call! I am proud of that fact. For me, it is an indicator of how far I have come and the potential for how far I may be able to go.

So, happy summer to all!