And she's gone.

It's so odd how, now that my cousin has gone (she died on Saturday at about 9 pm), now I can finally talk about her cancer in more than metaphors. I don't know why that was so difficult for me before. Especially since when I talked TO her about it, I could ONLY talk in science and medicine, I was crippled from talking to her about more metaphysical, personal parts. I kept holding up my analytical, informational side for her to talk through the science of what was happening to her, rather than HER.

She died from adrenocortical carcinoma. Only about 300-400 people in the USA are diagnosed with ACC a year. In Australia, there are only a few patients currently. It is such a rare, strange cancer: rather than being undifferentiated like many cancers, these tumors are often differentiated and functioning: they pump out hormones like cortisol, causing all kinds of other side effects that are really unpleasant for the patient. It's extremely lethal, but only when found past stage 3-4. If found instages 1-2 (where the tumor has not invaded other tissue and is still encapsulated), it can be removed and survival with NED is actually pretty good. Unfortunately, because it is so rare, not many doctors know how to recognize the early warning signs, they often get mistaken for other relatively innocuous hormonal/weight/skin issues and so many patients are not diagnosed until stages 3 and 4 when it has gotten so bad, and the cortisol/Cushing's symptoms are so awful, that finally they can see there is something else going on.

And herein lies the problem: our medical system is no good at looking at small numbers of things. When a given doctor may see 1-2 people in his/her lifetime with ACC, they just don't have their radar set to the right level for catching it. We just don't know what to do with small numbers. Large numbers, yes: skin cancer? Totally watched for. Breast cancer?: yup, hudreds of thousands of women mean a nice big histogram to have in mind for someone to fall in the middle of. To that perceptual bias, add the problems with funding for things that don't affect enough thousands of people (a. not enough donors! b. no company will make enough money off THAT treatment!), and we reach the limits of the abilities of our model for medical maintenance.

What's more, she did not have health insurance for the first 3-4 years (or more) that this cancer was probably growing inside her and starting to show its signs. She saw student clinics and other free care options, and was brushed off again and again. Finally the volunteer nurses at one of these free clinics (a woman's clinic in a city) decided to look more closely and figured out to test for cortisol levels. BANG. From there is was a rush to imaging and surgery. Finally the attention that was needed, but about three or more years too late. Stage 4, invading the vena cava. Removed surgically according to what is considered the "typical" protocol, but within six months little constellations of metastases were all over her lungs and liver (which, it turns out, is also extremely typical for this protocol). These cells have an incredible propensity to invade other tissues, and the tiny seeds left over from the cutting and ensuing inflammation just floated on out and germinated in whatever narrow constricted vessels they finally landed. Once that has happened, it is definitely too late to make any major headway in treating this disease.

On the physician side, treatment of this cancer is beset by inexperience, ignorance, hubris and confusion. There are a few experts in the world, and these people are truly excellent--compassionate, thoughtful, giving everything they have to understand how to do the best they can for their ACC patients. But the non-experts sometimes kill people without realizing it. The tumors are soft and easily broken, and also most likely to metastasize when that happens--yet surgeons argue and disagree and can't decide whether laparoscopy or full resection or what-have-you-their-expertise is the best way. They argue academically about adjuvant treatments, disagreeing on paper whether they should or shouldn't help. They talk about staging and survival curves. They forget that they are talking about individuals, people, human beings who are afraid and who can sense that nobody really knows what is going on and that terrifies them.

On the basic science side, because of its small sample size this cancer highlights what we all have been coming to know and accept about cancer: it is a heterogenous disease, a collection of many different diseases from person to person (and frequently even from tumor to tumor and cell to cell in the SAME person), constantly evolving under pressures to eradicate it. When a type of cancer has millions of patients, the statistical biology means that good portions of them will have extremely similar characteristics so they can be classified together, and treatments can be tested out to know roughly what characteristics will respond favorably to which treatments. When the cancer only has a few hundred patients, this process is hit or miss--like doing a blind taste test where even the testers don't know which product is which. And when that cancer is extremely aggressive, the timeframes in which you can test are only months--so it is extremely difficult to really know what is working and what isn't. By the time you finally find something that stabilizes the disease progression, you may have broken down the patient's body so much that they cannot hold on any longer to enjoy their new control over the cancer.

When every patient is their own test case, it is impossible to predict how things will turn out. And it shows the sorry state our knowledge of this biology really is in, that we still need at least thousands, if not millions, of N to be able to make decisions about what is going on and what to do about it. Until we figure out how to quickly and mechanistically understand each patient's cancer, this will just keep happening over, and over, and over and over again. A tragedy each time, that didn't need to happen this way if only we could figure it out. Isn't that our job, science?

15 thoughts on “And she's gone.

  1. I am so so sorry for your loss. Many many virtual hugs. Yes it is our job as scientists to figure out how these things work and how to best approach treatment. From a very basic science level of what happens to x if I do y, right up to the treatment phase. This post has brought up many things to think about. For me, it brins home the importance of family and friends. My thoughts are with you.

  2. I'm so sorry Arlenna. I'm sure that your cousin understood that "speaking science" was your voice of care and concern. Like SM, this brings up a lot of important things to think about for me too. Sending good thoughts for you and the rest of your family during this difficult time. Thank you for sharing.

  3. I'm so sorry. You're right that this is our job-- to figure out how disease works, how to detect it, and how to cure it. No matter the sample size. I'm thinking of you and your family during this time.

  4. I'm so sorry for your loss. I often fall into the same role when someone I know is sick. Most recently my parents have been asking me for lots of information regarding their friend, who was just diagnosed with cancer. I know it helps me; I do believe it helps the patient too.

  5. Again, so sorry for your loss and that of your family. It's saddening to hear about how our medical system can fail. I myself struggle with these same sorts of dilemmas as a scientist. My type of science, as you know, has the potential to treat many different types of diseases. The debate I often have with my supervisor revolves around working on diseases of the masses vs. the few. There are several ailments I'd like to address because I find them interesting and overlooked; my supervisor would rather see my time spent affecting the lives of a greater number of patients. Ideally, you have all angles covered, but in reality, it's the big N diseases that get the most attention and research $$.

  6. Arlenna, I'm sorry to hear that nothing was caught sooner and that this course of events ensued. Hopefully you cousin's battle will help the next person who develops ACC.

  7. i'm so so sorry for your loss. loosing a family member is very difficult, but loosing one to a rare and misdiagnosed disease is particularly difficult. as scientists, i think we are expected by ourselves and others to to be able to discuss illness in clinical and pathogenic terms as opposed to lay person terms because that's what we have the most experience doing. i agree that we have a responsibility to everyone to try and figure out the direction of diseases, even the rare ones, and to figure out treatments.i worked with a wonderful group of oncologists for a year. while they could discuss patient treatments, numbers and approaches in dispassionate terms, each patient was a real person to them not a number or constellation of symptoms. there are really compassionate oncologists and surgical oncologists out there.

  8. Arlenna, I'm so sorry for your family's loss. As someone else pointed out, I'm sure your cousin was comforted by your "speaking science" with her about her illness.

  9. Thanks everyone for all of your support. I really appreciate it. This has been a pretty hard time for all of us--there are 13 cousins in our family and eight of us grew up in the same city. Six of that group grew up together like sisters, our moms worked together from home so we spent our summers together. Our family has a history of losing people to cancer, and at progressively younger ages (she was only 27), so this is just so hard to watch again.

  10. Pingback: Women’s Health: Survive your doctor | Chemical BiLOLogy

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