My cousin this year made it her new year’s resolution to face her risk for BRCA2 and get tested. Good that she did, because she found out she was negative for the mutation. That said, seems like a good time to share the following notice from my email:
This initiative will offer free breast and ovarian cancer genetic testing to all 30-year-old women in the Madison/Huntsville community. The test kits will test for the BRCA1 and BRCA2 genes, as well as 21 others.
In addition, men and women 19 years and older who live in the surrounding counties have the opportunity to purchase the test at a reduced cost of $99.
If you do not live in the surrounding counties, the cost is $225.
The test are made by Kailos Genetics, a HudsonAlpha associate company that is collaborating with HudsonAlpha on this groundbreaking initiative. The idea came about at our 2014 annual cancer fundraiser Tie the Ribbons, when keynote speaker Dr. Mary-Claire King challenged us to be the first to offer free testing to women 30-years of age.
For more info, see the Hudson Alpha website.
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My 35th birthday is coming up soon and it’s a significant number to me. This was the number when I promised myself I would take action about my family’s heredity breast cancer risk. That was nearly six years ago I made the promise to myself and, when I did, it seemed like I had all the time in the world. Now looking back I am surprised at how fast it went.
My mother’s cancer diagnosis in 2009, and her determination to make sense of it all was how we came to realize there is a genetic mutation in our family. I didn’t realize how many incidences of cancer we had in our family history, but not even my mother knew the extent either until she started talking with my grandmother and her cousins. If only we had had the conversation earlier, perhaps things could have been different for my mom and for her sister. But at least we did eventually come together and things are now different for the rest of the family.
My mom and grandmother’s positive test results for BRCA2 initially threw me into an unfamiliar and anxious world. At 29, living in a new country without a steady job, I wasn’t ready to face the facts whatever they were to be. Literature I was reading advised women to take action by 35 when they were most likely to have completed their family planning decisions. I hadn’t even begun to think about that! I promised myself I would take action by 35 and thankfully by 33 I was ready to face the facts.
My mom initially was concerned about my delay. She mentioned to me that she worried about me assuming the worst and denying myself the chance to get on with my life. I didn’t really get that advice at the time. Now I do. Now that I am actually approaching 35, I realized that I never even got around to that family planning question. I honestly did tend to assume the worse and figured kids would probably be out of the question in more ways than one. I worked instead on sorting out my job and residence situation to brace myself for what I expected would certainly be an unwanted result.
Certainly, we all need to come to terms with things on our own time. But I think I would also give my mom’s advice now. There are challenges we will all have to face eventually, but we’re likely stronger than we give ourselves credit for.
On that note, I would like to share a campaign to help get that conversation started in more families. Below is a message from Sherry Kabran who lost her sister to hereditary breast cancer:
My family has created three guides to teach people basic facts & give a Jewish setting in which to start the conversation. Please read the following guest post I wrote for Yeshiva U’s genetic cancer blog. Please consider listing our website on your blog: http://www.treeoflifebrca.org
While in mourning, some try to cope with their emotions and loss by writing journals, going to support groups, blogging, running races, attending daily minyans, even starting cancer oriented organizations. The women in my family found their own ways to accept the loss of Carolyn Raizes Davis, mother and sister, but together we created Tree of Life: a BRCA Conversation guide for Passover, Shabbat and Rosh Chodesh.
Each guide helps Jews of Ashkenazi descent understand basic facts about hereditary cancer risks from the BReast CAncer gene mutation. The highlighted message is that every family should create a family medical tree, look for red flags and consider genetic testing, if appropriate. The guides provide a Jewish setting in which to start a serious conversation that might save the 1 in 40 Jews of Ashkenazi descent, who unknowingly has a BRCA gene mutation.
This family project was our suggestion to FORCE (Facing Our Risk of Cancer Empowered) to reach out to the Jewish community. How could we not try to help? Carolyn passionately believed in teaching the community about BRCA gene mutation risks and worked closely with The Methodist Hospital doctors, to develop an educational program. Her legacy was EDUCATE anyone who will listen!
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I watched a documentary tonight called Do You Really Want To Know? It follows three families with Huntington’s Disease, a rare disease which progressively damages the brain and eventually leads to death. There are no known cures and limited treatment options. It is also caused by a genetic mutation. Since 1993, testing has been available and this documentary focuses primarily on how these three families dealt with choosing to be tested or not. In the case of Huntington’s Disease, testing positive for the mutation means the person will certainly get the disease if they live long enough.
I heard of Huntington’s when reading up on BrCa even those the two diseases have no relation. The only common thread is that both are life-altering diseases that people can now choose to be genetically tested for. However, when I first heard of Huntington’s I couldn’t imagine choosing to get tested for it, even though I certainly chose testing for my family’s BrCa mutation. But while I can take proactive steps to reduce my risk early in my life with a BrCa mutation, there is no proven strategy one can do to reduce risk for developing Huntington’s. So why would a person want to know?
Well, this documentary made me reconsider that viewpoint. Like BrCa, Huntington’s Disease is an active area of research and new treatments are being developed. There are still many opportunities for scientists to better understand the disease and develop effective treatments if not a a cure. If a person knows their status, they have the option to participate in these studies. In a same vein, albeit difficult to broach, knowing your life expectancy is not average gives you the option to plan for life events differently.
I have been spending a lot of time processing my own experiences over the year. I have a lot more gray hairs than before. My mother turned gray early too so it’s not truly due to wizened old age, but I do feel I am getting a slight wisp of wisdom. Mortality hit me hard in this last year. With three funerals and three lives to reflect over, I have been trying to make sense of it. It’s humbling to think of each of their lives, what they achieved, how they handled the challenges. It’s also humbling to realize I have the same fate myself. But while I used to spend a lot of time pondering over the fate of dying from cancer, I am just pondering over the fate of dying. What do I want to do now, knowing that my life is getting shorter each day? Am I doing what I want? With or without test results, that is question we all have to face.
That said, facing the choice of genetic testing is not an easy path to go through. Watching this documentary was therapeutic for me as it was the first time I heard people talk about their feelings about testing negative since my own results. It also talked about testing in the context of a family rather than isolated individuals. Even though it’s not about BrCa, I would certainly recommend it to other people at risk for BrCa and considering genetic testing.
For those in Canada, the film is free to view on the Knowledge Network right now.
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Last week I got the call the blood test results are ready. I chose to schedule an in-person meeting to find out the results, and today was the day. I have spent the last week getting mentally ready. Requested a day off work, let some close family members know the news was coming in soon, and last night my partner and I had a heart-to-heart talk. She reminded it’s going to be ok no matter what the results are. We can handle this, there are options, think of how strong your mom was. That last one choked me up.
My partner and I headed over first thing this morning. Sat in the waiting room trying to avoid over-thinking it. Counsellor took us in closed office and asked me once more, “Do you want to know your results today?” Breathe, “Yes.” “Ok, I have good news… you have tested negative.” Breathe again. It was hard to think of what to say next.
It’s been almost five years that I first heard of BRCA. It’s not just been on my mind, it’s been part of life for the last five years. I spent countless hours reading up on the topic, going to screening appointments, writing out my feelings, and losing my mom along the way. I don’t really regret delaying the testing for myself though. I honestly felt it got easier the more time I had to integrate this possibility into my life.
One thing that hurts though is not being able to tell my mom. She wanted to know, and she wanted to have the peace of mind I’d be ok. I just knew I couldn’t promise to her it’d be the answer she would want to hear. Now I just wish I could have given her that happy news and heard her breathe the sigh of relief that I had. I’d like to believe—even I am not a believer—that maybe somehow she heard the news today regardless.
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I got my blood requisition form this Wednesday and went for the blood draw the next morning. So the clock is officially counting down. And I am getting antsy again for more data. I know I have googled this to death before. Yet I am at it again. Tonight I found an article which I read a long time ago that notes a family with the same mutation as mine. There were four cases of breast cancer (one male) at the following ages of onset: 66, 33, 34, and 39. When I first read this article, I was 29. I am 33 now.
So even though this year seems difficult enough already, I am definitely feeling the urgency and having no regrets on taking this next step. But in the meantime, I got about 8 weeks to reflect on what I am actually counting down to.
It’s interesting that I happen to bike by the provincial cancer research centre everyday to work. A well-known research centre to boot. Read in the newspaper the other day they are making waves on ovarian cancer and its relation to the fallopian tubes. It is also the exact same place I go for my six months checkups. Certainly reassuring to know that I have access to good health care, but it’s also a daily reminder. I get glimpses of people getting up in the morning heading there for work and for their appointments. And sometimes I ponder over what the world looks like from their eyes: as the office assistant who needs to smile and maintain a positive attitude even as they are witnessing heartbreaking cases, as the doctor who sees death as normal as life and can look survival charts like an investment broker, as the cancer patient who is sick and tired of going to the nth appointment this week and wishes those bikes would give them way for once.
In the process of stepping out of myself, I remind myself to keep perspective. With all the special self-help brochures, personal blogs, dramatic news articles, it’s easy to fall into the mindset of being a striken minority. But what about the people who already have cancer who are still going on with their life? In fact, just how many people around us are “normal?” How many aren’t concerned about a health condition, family history, or have already been coping with a significant disability for years? If genetic testing was more commonplace and the research was more advance, I think we’d be hard-pressed to find someone who wouldn’t be facing a scary statistic of their health risks.
Not that I am trying to trivialize having a BRCA mutation either. Just want to recognize that in being part of this pioneering crowd of people who can intimately know their DNA, we’re charting new territories. We don’t have much language or history for this experience. That itself can be scary. How do we share this others? It’s on my mind everyday, so it’s hard not to want to talk about it. But I don’t want pity or appear to be a pity-seeker. I don’t want to be dismissed as “hysterical.” Nor do I want to be dismissed as being doomed and damaged. I don’t want trump others with my intangible concerns with their very tangible issues. So frankly, I just don’t talk about it much outside this blog and private conversations with my partner. Maybe that will change with time too.
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I had my genetic counselling appointment today. Although I had one previously, it was about four years ago. So the high risk program set me up for another. I am not sure if I had a choice or not in the matter, but I certainly didn’t mind having a refresher. The appointment was for an hour and I was able to do it over the phone, so wasn’t a big commitment. I thought I would actually be done in half the time, but turned out we talked for the full hour.
The initial part was updating the family history. My part-time hobby in genealogy has been helpful on this part. But realized here that perhaps I should spend some more time on the living relatives rather than tracing the mutation back to my great-great grandfather and beyond.
Then the family update came to my mother and how she was doing. My matter-of-fact nature that I can usually keep up to talk about these type of things broke down on that question.
After family, we got into the questions about cancer risks if I did have the mutation. My first question is whether the risk information has been updated since we last talked. I said this as I was staring at the 84% lifetime risk of breast cancer my mom’s Myriad report stated. And the counsellor told me that based on a 2007 study the risk is believed to actually be 40-57%. That dumbfounded me a bit. That “80-something percent” has been in my head for four years. Without doing anything my risk had just been halved! Remember that previous post pondering about how to make life-altering decisions on statistics? Besides the difficulty of weighing certain negatives (mastectomy) with the risk of an even greater negative (cancer and mastectomy), there is a whole ‘nother discussion about how to calculate the risk itself.
So this lead to a bit of discussion on the methodology of the Myriad quoted study which comes from 1998 (!!) and the more recent 2007 study. The earlier study used 36 families and all included at least four cases of breast cancer < 60. This is one important distinction the counsellor brought up: families were identified because they had high-penetrance of breast cancer already. Back then BRA testing was virtually unheard by the public, so there was no means to do random or large samples. This makes the risk numbers very susceptible to selection bias errors. The 2007 study she mentioned to me is a meta-study. So rather than examining families themselves, it analyzes the results of 10 risk penetrance studies. The problem here is that the studies’ conclusions of risk are all over the map. Here you get into statistical approaches, like DerSimonian and Laird, to try and derive a summary statistic from the studies. Most people want to trust that people smarter than them have done the calculations right and just want a single number. Well, the calculations are most likely correct, but the devil is in the details… like assuming the random effects which caused the studies to differ so significantly are normally distributed.
Let me try and decipher that mathspeek without butchering up the facts. Imagine two different studies on BRCA2 mutations: one claims lifetime risk of breast cancer is 40% and the other claims 80%. Who knows what could possibly explain the different conclusions today? But let’s assume we could travel 50 years forward and find out it’s because different mutations have different risks. So the true reason for the difference was that one study had far more high-risk mutation participants than the other. A DerSimonian and Laird approach used to give an overall risk from these studies would give a number that would be completely inaccurate for an individual. (Why? Because it would be highly unlikely that all possible mutations types confer a normal-distributed risk of cancer.)
My point here is that we appear to still be thin on data and so the numbers provided by studies are highly inconsistent and questionable. Speaking of data, that brought me to my other question: Myriad Labs has a huge repository of data given it had a virtual monopoly on BRCA tests up until last year, is it releasing its data at all? No and not likely either, was the response I got. This got me looking at my report again wondering why in 2009 they were still quoting a study from 1998. But surely the reports published by Myriad today include updated studies or statistics? Not that I have seen. Grr, hard not to resent that company. I am seriously tempted now to call Myriad myself and ask directly, if nothing else to let it be know that people want more open up-to-date information. I am also even more motivated to keep watching and trying to participate in the Free My Data movement.
In the end, I did take the next step which is getting the blood requisition form. By end of next week I hope to be sending off my blood for testing. Hopefully, in the next 4-8 weeks I don’t stress too much. But I am certain BRCA is going to continue to be on mind. Will try to translate my worries to more productive purposes like blog posts on latest research findings for BRCA and emerging public databases.
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Since it’s been nearly four years since I last read up on the major findings BRCA1/2 research, I have been expecting to find some exciting new news. So here’s one new tidbit I have found: the Free My Data movement.
This is initiative setup by a consortium of genetic companies and researchers to encourage BRCA patients (including high-risk individuals) to input their data in an open access database. Scientists can use this data for research purposes depending on the privacy controls participants have setup.
So how is “Free My Data” different from the other databases? Well it’s data is coming primarily from patients instead of researchers. For instance, there is a breast cancer mutation database known as BIC. This database contains basic anonymous records of individuals / families with particular mutations and notes association with BRCA-related cancers. Although it looks like BIC access is only intended for researchers, you can get access without proving any university-affiliation (which is what I certainly did).
From the BIC entry on my family’s specific mutation I found out that there are at least 17 people around the world with the same mutation. That includes Swedish, Norwegian, Italian, and Brazilian families. What I would love to have is a complete family histories which could shed light on this specific mutation. Did other families see breast cancer in the 40’s/50’s like my family did? Did other families witness ovarian cancer (mine doesn’t have any clear cases)? This would be data that I would want to consider as well when making decisions if I also carry the mutation. Unfortunately the BIC database doesn’t have this detailed info and the contact people are either researchers or Myriad so they are unlikely to be willing/able to provide more info. Yes, interestingly, Myriad contributed to BIC too. But I don’t see any data submissions after 2004 from Myriad or other researchers. I am not sure why but I am guessing that Myraid litigation was heating up and the database was primarily focused on identifying “clinical significant” mutations. That is, mutations which increase the risk of cancer. Once a mutation like my family’s had clear enough evidence of increased risk, it probably became less interesting to researchers.
Certainly I still interested in my family’s mutation! And I would love to meet more people who could give me more info on it. I tried to leave a message on FORCE message boards but no response. I found a blog by another woman who had the mutation and tried to connect to her, but since then she has sadly passed away due to early-onset breast cancer. So I was excited to find “Free My Data” because I thought it might help me connect people with my mutation or their family members. However I have hit a bit of another brick wall. Although I could sign up and create a profile, I could not see any way for me to connect with other people in the database. And the section where I can upload the mutation information also seems flat-out broken. I have sent feedback to the website owners and hopefully will get a response. But in the meantime, I still feel a bit lonely. Perhaps my new mutation page will attract fellow searchers.
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My (second) genetic consultation is coming up soon. BRCA is certainly on my mind more than usual. And my mind is not thinking the along the usual lines.
When going through the shock, worry, and frustration of learning about BRCA the first time, I made up my mind that I would face up to the numbers and reality. I started to think seriously about what would I do if I found out I was positive. I seemed to take prophylactic mastectomy as a given and then spent my time considering reconstruction. I got quite comfortable with the idea of no reconstruction. On prophylactic bilateral salpingo-oophorectomy (good grief these words are hard to spell), I balked at the idea and hunkered down to consider what an evidence-based decision would look like. I examined the boundaries of the hypothesized ovarian cancer region of BRCA2 and got terribly excited about new research that suggested ovarian cancer may start in the fallopian tubes. That brought up the possibility that removing just the fallopian tubes as a risk-reducing strategy which felt like a reasonable compromise: salpingorectomy before 40 and oophorectomy later.
And so it seemed like before I even signed up for testing, I was feeling ready to make whatever life-altering decisions would need to be made. But after a four year hiatus, my mind has gone back to the beginning and entertaining what feels like a taboo: why surgery at all?
My father’s response—when I told him about the BRCA mutation in the family and what it could mean for me—was to argue surgery was completely unnecessary and imply I was being brainwashed by the medical mainstream. I was angry and vowed not to bring that topic up again with him. Besides the dismissive and ignorant, “You’re overreacting, you won’t get cancer if you just take care of yourself,” there are also horrific stories of women of whose intelligence and character was publicly dismantled for choosing surgery. I have no desire to flirt with such crack-pot science and self-righteous disdain. Moreover, I know my mother would have a quite a few words to say about weighing the cost of surgery with the high-risk of cancer.
In fact, I think my ready acceptance of prophylactic mastectomy came from looking at what my mother was going through at the time. Mastectomy was a trivial afterthought to all the other medical procedures and pain she had to go through. I never doubted for a moment that if she had the option for mastectomy to prevent her cancer she would have taken it without hesitation. In fact, she exhausted every possible treatment she could to buy a few more years, a few more months with us. So considering surgery as optional seems not just thick-skulled but disgraceful.
But just how do you measure such decisions? How can we not get tied into a numbers game when that is what drives medical care? Yet, how much do we actually understand the meaning and accuracy of the statistics?
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Tonight I tried to wade through the papers of my financial life. Not sure why I thought tonight would be a good time, but I guess wanted at least some sense of accomplishment today and a feeling that I am pulling a few things back into order. I didn’t get too far but it’s got me reflecting again on how exactly I ended up here.
Last couple of months, my life has unravelled a bit: my team at work split up right as we were gearing up for a major deadline on a multi-year project, my cat started having odd neurological problems, my neck went from chronic aching to a full seize-up, and my mom went from new treatment hope to hospice.
Strangely enough, my brother had a similar tsunami of misfortune. A week before our mother passed away, we got together to visit her knowing it was probably our last visit. On a Friday evening, as soon as we could pack our things after work, stilled stunned by a week of one disaster after another, we headed down south in his 1977 camper van. We made it across the border to a state park nestled in the Pacific Northwest forest. I was surprised how well I slept, and was relieved that my neck didn’t act up despite sleeping in the cramped upper bunk. We woke up to birds singing and cooked a decent breakfast on the stove. After several cups of coffee, we meandered down down a scenic byway to our hometown…
My brother and I returned to the same park on the way back north. But this time, I woke up far too early in the morning and knew any attempt at sleeping would be hopeless. I went for a walk to the beach instead. I stumbled around on narrow trails around the rocky cliffs and watched the chill breeze lap up the waves. I found a small grotto down near the water where I curled up to close my eyes once more and calm my mind. I couldn’t come up with a coherent thought or purpose. But I was able to enjoy the scenery and managed to slowly wake myself from my groggy state.
My poor brother on the hand woke up to realize we ran out of coffee the day before. It was all he could do to cook the breakfast sausage, and I took up the task of trolling the campground for campers who wanted to barter coffee for sausages. I quickly found out that no one wants to accept sausages from a stranger, cooked or not. But people do take pity on campers without coffee and will generously help out.
Before we left the campground, my brother and I took a nice walk up the hillside winding through the temperate rainforest and ending at a small lake near the summit. We returned to the camper to find it wouldn’t start. Not so surprising to us though; we had already noticed partway through our trip the battery wasn’t holding a charge. Thankfully we had a backup battery to jump from, and at this point, the inconvenience of jumping the van on every startup seemed like amusement given everything else we had going on. We reminisced about our jinxed car trips from years past (it’s quite an eclectic collection). And we made it back north that weekend neither early nor late. Neither of us were any closer to solving the problems troubling us and we knew it was only a matter of days before we would get another blow, but we felt resilient.
That blow came exactly a week later when we got the call our mother passed away. My brother and I took another trip down, this time in a rented car. During the drive, I told my brother I had a crazy idea to rent an RV for the next week and just spend some time in the forest. He told me bluntly, “Do it.” And so I did, with my loving partner cautiously following along. Surprisingly, we didn’t have any mishaps on the trip.
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Four years of screening later… I am still here. My mom is not.
I’m stumbling back to this blog to write because I don’t really know where else to go. I first started this blog when I had just found out my mother had been diagnosed with breast cancer, and it was hereditary. Not having many people to confide in personally, I did the second best thing and confided anonymously to the world. But while December 2009 may look like a very productive blogging period, it was a highly unproductive period of my life. I still feel a bit guilty about the contract work I put secondary to my obsession on BRCA2 germline mutations and PubMed. However, I don’t feel guilty for not writing here in the meantime. I spent that time getting a new job, gaining permanent residence, taking up a running hobby, and spending time with my mom.
I was never in denial about my risk factors these last years but I did find a way to put my anxiety on it aside. As my last posts indicated, I got enrolled in the local hereditary breast cancer screening program. I was eligible for MRI testing after all, and have had MRI and mammogram screens about once a year. I have managed to never get worked up over waiting for results. I also have found the MRI—which many fret about—to be a good test of patience, and somewhat fascinating. I know the machine well enough now to get excited when it really starts knocking and clanging as it is strangely rhythmic; and it also indicates I am almost free to move again.
Actually, I probably became too complacent with screening. At every appointment, the nurse and doctors continued to gently ask if I was ready for testing yet. I stuck by the position that I didn’t want to jeopardize my immigration application in any way. My decision was respected but it was also frequently mentioned in passing that there was no known case of such genetic discrimination in Canada. My medical exam for immigration was earlier this year and, sure enough, there was no point where genetic risk factors for cancer could have even come up. Good news though: I do now know that I don’t have syphilis or tuberculosis.
I got a rude awakening in my last screening appointment earlier this month. It was for a mammogram and I was proud of myself for managing its rescheduling (and not letting it be one of those phone calls that I “forget” about). But the day I showed up, the doctor apologized for the clinic messing up the appointment: “You had your mammogram six months ago, right? So we should have scheduled you for an MRI. I don’t know why they put you down for another mammogram.” I sat dumbfounded. I know the screening schedule is supposed to be alternating between the two tests every six months. But I hadn’t been keeping track of my appointments at all. I had just been following the reminder cards without a second thought. So much for advocating for my health and taking charge. I went home early that day promising to myself to be more engaged.
However, I did call to setup my genetic testing appointment shortly after I got my permanent resident application approved a couple months ago. This also happened right around the time my mom told me that her cancer had stopped responding to treatment. Suddenly I felt rushed, as I remembered that my mom had also been waiting patiently for me to get tested. And with her news, I realized she might not get that chance. I asked for the nearest possible appointment to do testing. I asked if maybe I could skip the counselling since I had technically done it before. I got a date three months out, and gave up on trying to move it forward.
The truth is, I was terribly torn up about disclosing the results to my mother. She told me a couple years ago that she was initially upset when I didn’t immediately get tested back in early 2010, but she felt better about it as she knew I was still being proactive. I understood why she was interest in knowing the results. But I also knew there was only one answer she could possible want to hear: that I am negative. Each year that I put off testing and her cancer progressed, I felt more conflicted. Most recently, I had been thinking that I would tell her I was negative no matter what the results.
But time ran out. Mom passed away last weekend.
I write that so matter-of-factly, but tears are still streaming down my face. I know they are going to continue for a while. Even though she did her best to find acceptance at the end, even though everyone worked so hard to give her the dignity she deserved, even though we had the chance to say our goodbyes… it just doesn’t lessen the grief.
And sometimes it doesn’t just rain, it pours. Next week is my third funeral this year. It’s hard growing up, and I know we all have to face these pains. But sometimes, BRCA just makes it harder.
Curse it though, I am going through with the testing this coming month. It’s never going to get easier anyways.
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