Adventures in The Life

I spent this morning cleaning. Really cleaning. The scrubbing, dusting, mopping stuff that feels like a work out. 3 hours later, it is rather disheartening to look around and realize I could still tackle those dishes, put in more laundry, perhaps sort out the boys' rooms. The possibilities are depressingly endless. And so, I have made a pot of tea and quit the cleaning to blog about something I pondered while doing all that work that will be undone as soon as the boys arrive home at 3pm.

The subject that caught my attention is the meaning of medical diagnosis. Obviously this is rather pertinent to my life right now as I pursue genetic answers, and as a family we tackle a life-long approach to a significant medical diagnosis - autism. All my personal thoughts got focused this morning as I listened to a Radiolab podcast on the subject.

Side note here: If you enjoy science even a little tiny bit, I highly recommend Radiolab. Their podcasts are free to download, utterly fascinating, and you can access their archives going back years. A wonderful way to distract yourself from the task at hand, while learning the most incredible things about this world and life and the crazy things people are up to. 

Anyway, this morning I listened to an episode of Radiolab titled Diagnosis recorded in 2008, in which they explore the entire topic, from the search for diagnosis to the impact. Interestingly enough, two of their cases felt very familiar to me - one dealing with cancer, the other, autism. This left me thinking about diagnosis in our lives. How has it changed our course? Why and how have we decided to know, because let's be clear here, a diagnosis is knowledge, it is not a disease itself. In other words, getting a diagnosis does not affect whether or not you have a disease only whether you KNOW you have it. How then, does that knowledge change you and your life?

In our life there have been clear cut examples of no-brainer, yes, tell me what's going on, give me the diagnosis. My breast cancer is one example. I had a lump. I needed to know what that lump meant. By learning it was cancer, I was able to pursue treatment. Diagnosis meant a chance at life. 

But what of those instances where the decision to get that official knowledge is a bit muddied? What if it isn't a life or death issue, but something far more nuanced, such as autism? In the Radiolab episode, they featured a family in which one son has autism but does not discover it, or receive a diagnosis, until his 20s because his father refuses to see that there is anything amiss enough to seek outside help. Instead, the father pursued his own interventions for his son, mostly focused on enhancing his son's academic opportunities. As a result, the boy - who has Aspergers - excelled in school and attended college. Socially, however, the outcome was far different. Little attention was paid to helping him navigate the complexities of our highly social neurotypical world, and no explanation was ever offered to him as to why he struggled so much with what appeared effortless to everyone else. It was only with the intervention of his older brother that a diagnosis was sought, and behavioral therapies begun. Soon, he developed social skills, friendships, and even a romantic relationship! The diagnosis opened a door to treatments his father couldn't access alone.

The father, like most parents whose child is on the autism spectrum, lived in fear of the label, of potentially relegating their child to a special ed world in which they ARE their label. In fact, given where they lived at the time, it was admitted by a specialist, that the son likely would have been educationally tracked far below his ability. 

Today, understanding of autism has grown and we know that an individual with the disorder is far more than their diagnosis, just as each of us are far more than any one descriptor can express.  At least, that is the case for the well informed. A great deal of misunderstanding about autism still exists so that the diagnosis itself carries with it an enormous weight. Assumptions are made. Judgements passed. Labeling begins. 

Peter and I struggled with the concept of labeling. While we wanted answers for Alec and the best possible treatments, we hesitated at stamping him with a diagnosis that in the hands of the wrong person could negatively shape his life. 

When you receive a diagnosis, you are suddenly thrown into a world that is new and strange. There is fear of that unknown. While we understood that a diagnosis of autism opens doors to services to which Alec is entitled, we worried that the label of autism would slam shut doors of opportunities for our bright and inquisitive child.  Would the outside world see only autism?  

We chose at first to dance the line between diagnosis and label. Understanding that diagnosis can lead to labels, we protected the diagnosis. At our request, it was kept out of his primary medical file, not released to his preschool, and only given out with our express permission.  

Slowly that dance has become more like a line in the sand. We are now very open with Alec's diagnosis of autism (as I sit here blogging about it for the world to see). It is written into his school record to unlock essential services. It is shared with family and friends so that they can join Team Alec and help him learn to navigate the world. But the moment the diagnosis is turned and twisted into the label that obscures who Alec is, the line is crossed. Diagnosis turned label equals harm as the individual is lost and who he is becomes assumed by the mention of the word autistic. 

For us, diagnosis has meant knowledge, and the power to access help. But, at the same time, it has meant the need to protect the diagnosis itself from potential misuse. Once the diagnosis occurred, both sides have existed simultaneously. While we are constantly seeking more and more information on autism and how best to aid Alec's development, we also are on guard against those who would label him, and we tuck away information on autism that we can use to educate others on the disorder so that they can see the individuals and not the disorder. 

So, there you have it. My thoughts this morning as I scrubbed the floors and toilets. Mixed in there, were many questions and ideas on my current genetic testing. It is a minefield of thought paths on the question of diagnosis. My brain is still so jumbled in the attempt to process it all, that the subject refused to be entered into this post. Perhaps another time. 

At dinner every night, Peter asks the boys to tell him one thing they learned in school that day. If they aren't able to come up with at least one new item, it is off to the salt mines to join the working forces as clearly they have gotten all they can from school. (This puzzles Alec a bit, since he is pretty sure that 7 year olds aren't allowed to work. Smart little bugger.)

Well, I learned something fun and new today, and let me tell you, it really threw me for a loop. 

Life is always teaching us lessons, isn't it? Sometimes, they are lessons in things that we probably knew, but perhaps life felt we needed some heavy hitting reinforcement. Like, if we got shaken to our very core then we would really absorb today's homework and be ready for the quiz next Tuesday. 

Today was one of those mind-blowing days. It all started with one of my regular cancer check-ups. Those times when I visit the vampires for their blood samples, get my weight announced for all to hear, and then I head back to the little room to wait for the doctor. 

Back story:

I was diagnosed with Stage I breast cancer in May 2002. I had just turned 28 in April and was in my first trimester with Alec. Connor celebrated his 3rd birthday 4 days after I received my diagnosis. All in all, it wasn't a time of life that you expect to hear that you have breast cancer. Heck, 4 doctors told me I was too young, had none of the warning signs, no classic family history, and therefore couldn't have breast cancer - despite the lump on my breast. 

Lots of craziness followed, which I will tell you about later. Today, that story isn't the point. The point is the why behind the cancer. I don't mean the "why me?" I never bothered much with that, understanding that my life is as apt to take an unexpected twist as much as the next person. No, I mean the scientific why. Since I was relatively young in breast cancer terms (although the rates of breast cancer in women under the age of 40 are steadily rising!), it made sense to find out whether my genetics played a role. Did I have one of the identified genetic mutations -BRCA I or BRCA II that are thought to make a person more susceptible to breast cancer? 

We did the genetic screening in September that year and discovered that yes, I had BRCA II. As the geneticist explained, I had an unusual situation. Evidently, I had received one mutation from my mother, and one from my father, on this particular gene known for stirring up breast troubles. Individually the mutations were harmless, but combined they packed a punch. To this day, I can clearly recall sitting in that cramped consultation office trying to focus my mind on what she was saying. Things like, increased risk of another breast cancer. Risk of ovarian and colon cancer. Oh, and my favorite part, - increased risk of cancer in general. Great! Fantastic! I won the genetic lottery! 

Whether to get genetic testing is the source of huge debate. Would you want to know that you may be a time bomb? What do you do with information that you may someday get cancer, but then again you may not?

So, why did I want to know? Easy. Connor and Alec. I wanted to do everything in my power to see that my boys had their mother for as long as possible, and to do that, I needed all the information I could get. 

My desire to fight this whole cancer business with all that I had, coupled with the new insight that more might be on the way, I opted for surgical removal of my ovaries (Ha! Can't get me, if I get you first!) and a few year later, my second breast. 

All of this - my original diagnosis, the discovery of the probable why with BRCA II, and my subsequent surgeries- formed my story of my cancer. Each part is fundamental to my personal understanding of how and why a significant part of the past eight years of my life happened. 

The world I knew got thrown topsy turvy as I sat in the cancer doctor's office today. I never saw it coming. This appointment was unusual. I wasn't meeting with the actual doctor, but his assistant, to be introduced to a new survivorship program. She explained all about it. We talked vitamins and nutrition. All nice harmless stuff.

Then I said, "hey, did you see the new study results recommending the removal of ovaries in women with BRCA II?" And she said, "Oh, yes. But you don't have BRCA II."

Excuse me? Perhaps you have me confused with another patient. I'm the one diagnosed with Stage I BC, with BRCA II. 

Nope. She was certain that she had seen a note in my file that clearly stated I did not have BRCA II. 

I got a copy of that note. It is a report from the genetics lab dated 2008, in which they revised their earlier assessment of my test results and now conclude that I do not have BRCA II. 

Huh. Would ya look at that? Wow. Felt a little sick to my stomach. A bit like crying. You know how people say the ground shifted under them from some big revelation? Yeah, it was a little like that. 

The drive home was surreal with multiple trains of thought crashing together in my brain. On the one hand, I fully understand that science evolves. Perhaps the genetics lab has a more sophisticated test that can now exclude my results from the positive category. Who knows, in another few years, an even more super duper test could put my results back in. So, the truth of my diagnosis, like science, is fluid. 

Does that matter? Does it change anything? 

Having the scientific evidence for my why was rather comforting. It helped me order the events. Now I feel a bit lost. I still believe there is likely a genetic factor, and perhaps science will discover it, and I will sit in that office again one day to be told I do have BRCA II or III or IV. Who knows?

Obviously, it is a GOOD thing that I might not have BRCA II. No one wants a genetic predisposition to cancer. But, as I said, I still think it is really there, just now without a name.

What of the big questions? Would my medical decisions made over the past eight years, based in part, on the original BRCA II finding have changes? Well, in all likelihood, I wouldn't have had my ovaries removed, if only because no doctor or insurance company would have agreed without the genetic evidence. I would still have had the second breast removed. Most definitely. Whatever caused the cancer in the first breast, genetic or not, could cause it in the second, and I'm not one for waiting around for that to happen. 

Going into menopause at 29 is a big deal. If this new report is right, and I don't have BRCA II, does that now make me a cautionary tale against genetic testing? Some might interpret it that way, but I have a feeling it would be those who are already against the testing. 

My perspective is a little different. I chose what was at that time considered a pretty aggressive treatment based on the best information I had. I feel good about that. I did what I felt I had to do to survive, to be there for my boys. The story, the truth, may be fluid, shifting and evolving - and that is a lesson I will remember - but the fact that in each present moment we must do our absolute best with what we have at that time remains. Whatever the truth is or was or will be, I fought like a momma bear, and I would do it all over again.