The Genetic Test Results

 I originally wrote this post in January 2017 but just realized that I never published this until now. I had forgotten it was in the drafts.... but this is relevant to my next post. 

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 January 2017

This post is definitely overdue.  In part, I was trying to wrap my head around it.  The initial appointment with the genetic counselor discussing the results was overwhelming in itself.  I needed the time to process and understand what my genetic test results meant.  I spoke with a brilliant guy who loves genetics.  I am grateful to my colleagues who helped connect us.  He helped me understand genetics somewhat better.  I think I need years of study before I fully understand the whole genetics thing.  I am grateful to him for helping edit this post.

My take-home message was that while it is good news that I tested negative for all 25 cancer genes, but it's still a MAYBE.  I MAY still have a risk because I have a variance of one gene.  Can you see why this can easily mess with one's head?  It's like, "You're okay... but... wait a minute... maybe...."

While I was in the process of understanding all the information I was given, Dr. Jewell's initial recommendations that I have my breasts and ovaries removed utterly freaked me out.  I put the genetics test results aside for the time being.  I think I avoided dealing with it because I did not want to face the possibility I may have to go under the knife again.  Three surgeries in one year is simply too much.  I do not want any scalpel near me for a long time.

As I stated in an earlier post, I was tested for the following genes:

BRCA 1/BRCA 2
MLH1
MSH2
MSH6
PMS2
EPCAM
APC
MUTYH Biallelic
MUTYH Monoallelic
CDKN2A (p16INK4a)
CDKN2A (p14ARF)
CDK4
TP53
PTEN
STK11
CDH1
BMPR1A
SMAD4
PALB2
CHEK2
ATM
NBN
BARD1
BRIP1
RAD51C
RAD51D

The bold-faced ones are tied to uterine/ endometrial cancer.  I tested negative for those.  Hence, I will never know why I had endometrial cancer.  It could be a combination of environmental and physical factors.  I tested negative for all cancer genes.  However, I have an uncertain variant of the gene BRIP1 (italicized).  Specifically, my genetic test results state the following: "c.2220G > T (p. GIn740His).  At this point, we do not know if this variance poses a cancer risk.  There's not enough data.  If and when there are additional data, they will be able to make an informed conclusion whether that variance is a concern or not.

The BRIP1 gene is tied to ovarian and female breast cancer.  The risk for ovarian cancer with this gene is at 8.3% or higher while the risk for the general population is 1.1%.  The risk for breast cancer is at 10-20% or higher and 10.2% for the general population.

During this process, I also insisted that Dr. Jewell follow through with her promise to get a consult with MSKCC's Genetics Team.  Genetics team said I had to travel back to New York City for a formal consultation.  I was not willing to do that because I already had the genetics counseling appointments locally.  I was frank with Dr. Jewell about my feelings.  I told her that I wanted to discuss my genetics test results with her and her quick response was that maybe I should play it on the safe side and get my breasts and ovaries removed.   I further explained that recommendations contradicted with my genetics counselor's recommendations.  And I was not willing to get a formal consultation with the Genetics Team at MSKCC to find out if Dr. Jewell had sound recommendations.  Instead of talking with Dr. Jewell via her nursing staff, Dr. Jewell finally replied to me directly after a few weeks:

"I did reach out to the genetics team to clarify what the current recommendations are for variants of undetermined significance since this is an evolving area of research and I am learning about these new mutations.  Unfortunately, the genetic counselors at MSK do not make recommendations about patients without a formal consultation. However, I did find out that in general surgery is not currently recommended for these variants of uncertain clinical relevance. That said, family and personal history are components of the conversation with the genetic counselors to determine final treatment plans. I really am unable to offer more guidance. It seems that your local genetics team is up-to-date and a good resource. The genetics team here continues to be available if you would like to pursue their more personalized opinion."

That reply calmed me a bit.  "Surgery is not currently recommended for those variants..."  Then I decided to put it all aside for a while.  The whole process caused me some emotional turmoil.

It was much to my relief to learn that Dr. Angel share similar recommendations as the genetic counselor.  I do not have to do anything right now.  I have to be monitored continually to make sure nothing else comes up.  That means routine CA-125 tests which looks for tumor markers for ovarian cancer plus routine mammograms.  I have had two CA-125 tests done since August and am in the clear.  I had a mammogram last September and everything looks good.  I will be having an ultrasound of my ovaries in February because I mentioned that I was feeling some pain in the ovaries from time to time.  Before the cancer, I had functional ovarian cysts on a monthly basis.  I had become accustomed to this monthly pain.  After the hysterectomy, I only experience it once every few months.  I mentioned this to Dr. Angel at the November appointment.  She raised her eyebrows and looked at her nurse practitioner who was also in the room.  She said it would be worthwhile to take a look to see how my ovaries are doing.

Women with BRIP1 are recommended to consider surveillance, oophorectomy (removal of ovaries), or chemoprevention to manage the risk of ovarian cancer.  Since the risk for breast cancer is almost similar to the general population, regular or frequent screenings are recommended.

It's not confirmed that I tested positive for BRIP1.  I just have an uncertain variance.  What does this mean for me?  I just have to go on with my life and participate in the surveillance plan for my ovaries and breasts on top of the ongoing surveillance plan for endometrial cancer.  The genetics lab will notify my genetic counselor if there has been a change in the data regarding the gene variance.  My genetic counselor explained to me that I must constantly communicate with the office if my contact information changes so they can find me if and when new information emerges.  It could be next year... it could be in five years... it could be 20 years... it could be never.  I am not going to sit around and wait.  I'm going to live my life and deal with it if and when I get the phone call from the genetics counselor.  We don't know.  Genetics research continue to expand exponentially.

The genetics genius that I spoke with explained that I do have the BRIP1 mutation but I have a variance of that mutation.  "c.2220G > T (p. GIn740His).  The letter T is the variance as opposed to the letter G.  (Jeff is this correct?) It is unknown at this time if that variance would mean I have an increased cancer risk.  It could be a good variant but it could also be a bad variant.  He said that BRIP1 gene mutations are related to the well-known BRCA1/BRCA2.  It is important to emphasize that having a gene mutation does not mean one would get cancer.  It just means there is a risk.  There are number of factors that cause the cancer to emerge.  He said that the variance is one thing but I may have other genetics that came into play that caused the endometrial cancer.  I asked how the mutation and variance happen.  He said it was a result of years and years of evolution and environmental factors that caused our DNA to mutate.  It is through our biological survival mechanisms that create variances.  Sometime variances mean more bad news but sometime they mean nothing.  There's no clear answer.   Essentially, we are still swimming in the land of unknown with this whole genetics business.  

The Reality: Coordinating Medical Care

Despite the news of my "suspicious cancer," the rest of our week in Colorado was amazing. We got a lot of snow, creating a gorgeous snowy mountain backdrop for the start of our marriage. There was so much happiness between my sweetie and me as we joined together in a wedded bliss. It was such a beautiful memory, and I am forever grateful for that!

Coming back home was hard, as reality does bite. I knew I had to deal with coordinating my medical care-- getting all those tests scheduled. I remember back then when I had endometrial cancer: I was working full time and in a doctorate program as well. I had to take a leave in between my completed doctoral coursework and my dissertation because coordinating medical care, plus going to all those appointments, felt too much for me to fully focus on my dissertation work. When I was done with all that, I was excited to go back to campus to get rolling. One of the faculty members in the program commented that she was happy to see that I was "finally motivated again" to work on the dissertation. Ouch. I did not "stop being motivated." No... this nerd loves to be NERDING continually! It just was not possible for me to juggle the dissertation work with all the stuff that came with being a cancer patient. I hope this story serves as a reminder to my audience of how much work it is to handle all that. It's not as simple as scheduling a regular medical appointment and showing up. It takes a lot more than that. 

The challenges of coordination so far: 

• The medical system does not have a streamlined communication across departments leaving the patients to work hard in digging up information. Unfortunately, some patients just give up because it's so frustrating. 
• My urologist told me I had to call this number to schedule my biopsy. I called that number, only to be told that it was the wrong number. I was told to call another number. The second number said it was not the right number and then gave me a different number. The third number was the lucky charm, but they wanted to wait until I called before determining whether it was medically necessary. They did not start the review process after receiving the order from the urologist I waited a day for them to get that. 
• My urologist said I cannot fly for 1-2 weeks following the biopsy but when I spoke with the interventional radiology team, they said I can indeed fly the next day or two. I just cannot lift heavy things for a week. I had thought I had to wait until the end of June. The sooner the better-- we will know more details about this kidney tumor and develop a treatment plan. I scheduled the biopsy for this coming Monday. I had mentally prepared myself for the biopsy to happen later in June based on the initial information I got, but now I am increasingly nervous because Monday feels way too soon. I had to schedule pre-biopsy labs for today, throwing a wrench in my schedule. 
• As a deaf person, I have to deal with access issues. At my first appointment with the urologist, I missed some information because the sign language interpreter was not qualified. I had to read the clinical notes from my doctor in MyChart to get the whole picture. This morning, I emailed the iNova's Language Accessibility office and instructed them not to send me that particular interpreter again and to request credentialed interpreters. Unfortunately, some interpreting referral agencies try to earn a higher profit margin by sending non-certified interpreters. Medical interpreting is a high-stakes type of work, and medical systems need to avoid contracting with agencies that have lower rates because it's cheaper. It just means getting cheaper interpreters who are not qualified to do medical interpreting. 

Going through the motions again

It has been a long while since my last post which celebrated my seven years of remission. Unfortunately, I am going through the motions again after doctors found a tumor in my right kidney. 

On March 30th, I was awakened very early with a horrible pain in my lower right abdomen, accompanied by nausea. I could not figure out what was causing this pain. I tried to walk around to see if it would ease-no luck. I took ibuprofen. I went back to bed and tried to sleep a bit more. No luck. Eventually, I called the nurse hotline and they recommended that I go to the emergency room immediately. I was like, bleh. After my last run-in with cancer, I generally do not like going to the hospitals. By the time I arrived at the ER, the pain had worsened. They checked me in right away and a doctor saw me quickly- it was a quiet Monday morning. They gave me a dose of morphine, which did nothing. A second dose? Still no relief. Next came fentanyl, which dulled the pain slightly. They ran a series of tests and scans to figure out what was going on. 

While waiting for results, I checked my email and saw a message from HysterSisters reminding me that it has been 11 years since my hysterectomy. I found it bizarre that I ended up in the ER on that exact anniversary.

They ruled out appendicitis, gallstones, and a few other possibilities. Ultimately, they could not explain the pain and suggested that it might be viral. They sent me home with medication for pain and nausea. BUT- they also noticed something on my right kidney during the CT scan and strongly recommended follow-up. A renal neoplasm. I was shocked. 

My internist wanted to see me that Wednesday to discuss next steps and referred me to a urologist. The soonest appointment was April 23rd. Waiting three weeks was challenging but I managed to keep myself busy. I am deeply grateful for my wonderful fiancé, who continually reminded me to stay in the present and focus on one thing at a time. 

April 23rd: The urologist explained that 80% of this type of tumor is cancer. That was terrifying. He ordered another CT scan- this time with and without contrast- because the ER scan had used contrast only, which can affect imaging clarity. 

On Friday, May 1st, I had the CT scan. The radiologist explained they had needed to image both the veins and arteries near the kidney because this type of cancer can spread through them. For better imaging, they had to inject more contrast in me. As a result, I was very sick afterwards and did not feel better until about 24 hours later. 

This morning, I received the results and a message from my urologist: "Your CT scan did show that this mass on your right kidney enhances in a manner that is suspicious for a type of kidney cancer." I took a few moments to cry, feeling scared about what comes next. The urologist said that the next step is a biopsy. The complication is that I am traveling a lot in May and June. After the biopsy, I am can't fly for at least a week. He said it was okay for me to wait until June to get the biopsy done when I finally have  a full week at home. 

From my journey with endometrial cancer, I've learned the importance of staying in the present moment and dealing with things one step at a time. 

I am currently in Colorado getting married this week- a joyful event that my fiancé and I had so much fun planning. We met when he was 19 and I was 13, here in Colorado. We grew up loving this beautiful place and decided to marry in the same state where we first met, even though we did not begin dating until many years later. 

We set the news aside and went to the Summit County Court Clerk's Office to apply for our marriage license. Afterward, we drove to Glenwood Hot Springs, a place we used to visit when we were younger. That was quite a treat. Next, we drove to the area where we will be married in two days and admired the stunning mountain backdrop. We are especially excited because a winter storm is expected to move through the mountains starting tomorrow and continuing into Wednesday, which should give us  snowy scenes for our photos. 

It feels fitting that today is May 4th- Star Wars day. May the Force be with me as I navigate this next chapter with my health. 

Seven years and counting...

 A friend asked me last night what the return of rate was for 7 years. To be honest, I had no idea. I never thought about recurrence rates. I decided to investigate this. Endometrial cancer if detected early have 90 percent of survival. Recurrence rate for those who caught the cancer early on is 2-3 percent within the first five years. After that the rate goes down. 

 What is life like for someone who has been in remission for seven years?

Sometime cancer is like an afterthought for me. 

Sometime I find myself feeling grateful for my insistence on finding someone who was wiling to look to see what was up with my painful and heavy menstruation.  

 I continue to struggle with survivor's guilt when I see accounts of others dying of cancer. 

Whenever I feel pain in my pelvic region, I wonder if it's cancer rearing its ugly head.

I have moved forward. I recently returned to my gynecologic cancer support group at the Memorial Sloan Kettering Cancer Center as they now hold all of their sessions on Zoom (thanks, COVID-19) to seek answers and support on some things I am dealing with now as I approach perimenopause. It was nice to come back after a few years and seeing familiar faces and making new connections.

A student of mine mentioned earlier this week that she knew nobody with cancer. I told the class that once you have had cancer, you would know many. 

Another friend asked me yesterday if it was taking an emotional toll on me to support others in their cancer journeys because it seemed like it has been many times. Nope it does not. I remember when I first got diagnosed, I was desperate for information and could not find the answers I needed from my own deaf community.  Now that I have information, I am happy to share. Within the deaf community, there is the shared value of reciprocity. It just comes naturally to me. But when those people who reach out to me end up dying, that is when it is so hard for me emotionally. 

 

Celebrating five years in remission during the #stayhome era

Five years ago today, I received news that my cancer was in remission. I remember making a promise to myself that I would celebrate big for the one-year and five-year anniversaries. In light of the COVID-19 pandemic, I am staying at home instead. Today is just another day of #stayhome. This morning I gave the refrigerator a deep cleaning. This afternoon, I have a two-hour meeting. And I am doing some laundry and writing as well. Nothing memorable.

Strangely, the COVID-19 had some similarities with the time I had cancer. I was asked not to travel because my immune system was weak during that time. I remember feeling so trapped at home. I was also living with an abusive partner at that time who made my life, including the recovery, much more difficult. This is why my heart breaks when I think of how the #stayhome impact people who are being abused at home.

When I was given the green light a few months after receiving remission news, I was so thrilled to travel again. Remarkably so, I have traveled a lot more since then. It is like I have a desire to experience as much as I can in this lifetime. I had several trips between March and July cancel because of COVID-19. Admittedly, I do feel trapped but somehow, I am finding some blessings in this experience. I remember back then, staying at home meant I was given the time to re-evaluate my life and finding enhanced enjoyment in my favorite hobbies. It was during that time that I knew I had to get out of that unhealthy relationship. Additionally, I did some introspective work that prompted me to make other changes in my life. Five years later, by staying at home during this pandemic, I am back to re-evaluating my life. Having this time is valuable and I have been "too busy" in the past few years to do this deep introspective work.  I woke up this morning with a realization that this time of self-exploration is a gift in itself. Indeed, it is a celebration of how far I have gone in the past five years and a way to look forward to new changes in the next five years.

Immunocomprised or not?

Well... it has been a while.  That happens.  I got so busy with living and working too much.  My cancer journey became an afterthought for me although there are some days I am reminded of it.  When I get those random reminders, I often process a blog post in my head but... never actually typed those words.  Then coronavirus (COVID-19) happened.  I am stuck in my own home not able to travel nor work out in the field.  This gave me a luxury of time to blog again for now....

There has been a lot of talk about how individuals who are immunocompromised are considered high-risk if exposed to COVID-19.  My sweet, dear husband has been really worried about me.  I insist that I am not immunocompromised.  I continued to accept assignments outside the home last week and this week.... I figured that those might be the last jobs I will see for weeks to come so I was willing to take them.  What does that mean for me?  Am I risking myself?  Am I risking others?  It is hard for me to figure out because there continue to be many unknowns.  Most of them were medical interpreting jobs.  I figured people still needed access.  I took a lot of precautions: washing hands, not touching my face, and using hand sanitizer every five minutes at medical facilities. 

My husband's comment "you ARE immunocompromised!" kept on ringing in my head.  I have been in remission for almost five years.  My health has been good since then except for developing asthma after moving to Minnesota.  This danged frigid weather!  This first winter was a pain.  The second winter, which we haven't been done with yet, has been much better.  I have not had any asthma attacks since the freezing temperatures in November.  I actually feel really great those days.

Back to the original question: am I immunocompromised?  I researched high and low but was unable to come across any clear answers.  One website said that survivors of cancer may be immunocompromised depending on how long it has been since their treatments along.  One medical website said that survivors who are not getting active treatments probably do not have the same level of risk of those receiving treatments.  I was going to ask my doctor this question last Thursday but...  she cancelled that appointment.  Too bad HealthPartners charge $45 for each email question so I will refrain from asking. 

Truth be told, I am still confused.  For now, I will just stay home as much as I can.  It does help that I actually like the husband.... and the three dogs that live in this house. 

In Memory of Susan Lynn Crouch

Even though it has been a while since I last blogged (life has been quite interesting...), I am touched every time I learn about how my blog helps other women.  I have met with some deaf women via video to answer their questions about uterine/endometrial cancer or hysterectomy.  One of those women was Susan.  But what made Susan unique was that I already knew her.  I met Susan in 2002 when I moved to San Diego.  I remember she was so warm and welcoming.  Moving to a new place can be challenging and I have done a lot of moving in my life.  Susan's warm nature was like an open embrace to welcome me to San Diego.  Over the years, we have met up with other woman walkers.  At the beginning of this year, a mutual friend told me that Susan was diagnosed with breast cancer and then they found out she had ovarian cancer as well.  I was happy to talk with Susan.  We met via video a couple of times and talked a lot using Glide.  She said she read all of my blog posts.  She had many questions about undergoing the surgery to help her prepare for her full hysterectomy.  While I was supporting her through the preparation and recovery, she was selfless enough to root for me to finish my Ph.D.  She was ever so optimistic after her hysterectomy.  I remember the day she sent me a Glide message proudly showing me the series of photos that Laura Harvey had taken of her fingerspelling cancer in American Sign Language.  The letter C was shaped with an extended middle finger to represent "fuck cancer."  We bonded over those photos and agreed... yes.  Fuck cancer.  She was hopeful.

I was so heartbroken to learn that she passed away last Saturday.  I struggled on Saturday evening after learning of her passing.  "Why? Why?!  Why take this amazing person from this earth?!"  With the current trying times,  this world needs someone as sweet as her to lighten up things.

Susan, your soul will still shine on.  Thank you for allowing me to be a resource for you.  Until we meet again someday... hugs.