[Editor’s Note: We continue our occasional series on patients who are either survivors of serious diseases or who have become patient advocates. In this Q&A, we have someone who is both a survivor and an advocate. We encourage readers to consider contributing their stories for this series or asking a family member, friend, or acquaintance to contact us about their experience. In this issue, we feature a story relating how precision medicine can be used to identify a precision medicine therapy that might not otherwise have been prescribed but which precision diagnostics indicated could be efficacious. Read on.]
Dana Deighton is an accomplished and enthusiastic professional with decades of experience in corporate marketing, membership recruitment, licensing, communications, and partner and project management. Dana is with Inspire, a healthcare social network that connects patients and caregivers in a safe, permission-based manner. She enjoys working with people and is skilled at building and nurturing relationships with corporate and strategic partners, donors, and members. Dana is also active in the health policy and patient engagement/advocacy space. She is compelled to help create new dialogues between medical professionals, researchers, pharma, patients, and caregivers. And one more thing – she is a cancer survivor and patient advocate.
We contacted Dana to pose a few questions to her. She was kind enough to find time to reply.
Q. Could you please tell us the start of your journey – how was the condition discovered or diagnosed? In short, what led you to go to your doctor in the first place?
A. Having always been healthy as one might expect for someone just beginning her fourth decade, I could barely remember a day when I did not exercise vigorously outdoors. At first, small things were just merely bothersome, like stiff joints when I went hiking in Montana. I thought it was either the elevation or a just a little bit of age at play.
After I returned to my mid-Atlantic home from Montana, however, problems persisted and even worsened. I woke up out of nowhere with excruciating joint pain and swelling. I knew deep down it was ominous and quickly did some research. I hadn’t yet paid much attention to the malar rash that was surfacing, but that rash, coupled with the joint pain, seemed like textbook lupus. I sought the opinion of several rheumatologists and each had a different answer (like everything else that would come to be, my antinuclear antibody panel* left many questions). One doctor said for sure it was lupus. Another said it was “pre-lupus”, another sent me to a dermatologist.
(*Also known by the acronym ANA, a test for autoimmune diseases.)
Because I was seeking immediate relief from the knife-like pain at night, I took the advice of the first who prescribed hydroxychloroquine (yes, the same one that is in the news). And indeed, it did eventually bring some relief, but it also brought fatigue, which, I think, masked some other symptoms such as flu-like body aches, night sweats, and eventually abdominal and back pain that finally took me back to the doctor.
The discomfort was so intense around my midsection that I could not sit or stand for long. Long story short, that abdominal pain led to many tests such as ultrasounds, biopsies, scans, scopes, etc. With every test, the possible diagnosis grew more grim, with the final answer being the worst – stage four esophageal cancer – an extremely rare case for a 43-year old woman, and deadly for most. While I had a host of symptoms, none were typical for esophageal cancer which are more like heartburn and trouble swallowing. Plus I had never smoked or indulged much in alchohol.
Q. What happened next? Can you please tell us about the impact of this diagnosis? How did your life change?
A. Let me start by noting that cancer is a full- time career endeavor with on-the-job training, no pay, and no sick leave. In fact, you can have three different cancers over the course of many years, it requires retraining – reschooling- retooling each time. Sure, there are some transferable skills – like knowing where to begin to look – but every situation is different. And, like most other jobs, you get out of it what you put into it (if you are lucky), but there are also no guarantees. The only thing that is certain is unavoidable uncertainty itself.
There can be long fruitless days and nights of searching for any potential actionable nugget of information. Sort of like panning for gold. A mere glimmer can be the encouragement you need to fuel a deeper search or rekindle hope. Unfortunately, depth hardly equals success; it more often leads to dead ends. All of this takes strength, both emotional and physical, that you never knew you had before. While you may not be feeling well, the quest for survival has a way of engaging superpowers.
Q. After you realized you had to make major adjustments to your life, what were your next steps on your path?
A. For me, being repeatedly told that there was no cure, and no hope beyond about 12 months was like rocket fuel. I had three children ages 12 and under. We needed my income.
“There can be long fruitless days and nights of searching for any potential actionable nugget of information”
I had no option. I scoured publications, the less than reliable websites and blogs, and pursued the dimmest connections in the hopes they might lead to something. My husband thought I was crazy.
I did all I could to search for any shreds of information or track down physicians and patients to find more information. Even the tiniest things kept the pilot burning in the face of treacherous headwinds. Unbaked, disparate clues were what made me smarter.
Q. Did you find that informing yourself allowed you to speak up and ask questions?
A. Eventually I was able to ask questions of my many physicians that even surprised them. They often asked “Where did you find that? Why do you ask?” But they knew I wasn’t messing around and I demanded their attention. I was not going to let a stage 4 diagnosis limit me to palliative care! Most of the physicians with whom I consulted did not play along very well with my amateur MD research and my persistence. But one did. And that was a game changer because he saw more life in me than cancer. That didn’t mean it was easy, but we were able to forge an unchartered path together. We shared hope, concern, and determination for the best outcome in the face of relentless odds and equally stubborn PET scans, biopsies, and soul breaking symptoms.
Q. Can you tell us about your treatments following this round of diagnostic tests?
A. Esophageal cancer is a deviously relentless and formidable foe. Months of slow improvement punctuated with setbacks (lung opacities, etc.) became the norm. Despite the setbacks and outlook, my doctors and I achieved much more together than any data or standard of care suggested. Months of chemo, radiation, a 15.5-hour esophagectomy, and countless other procedures could barely fend off the silent but deadly malignancies.
And, in fact, there were times when I was losing. One of the most discouraging times was a recurrence a year after my surgery. The message was that the cancer was still in charge. Luckily, my physicians had always encouraged me not to give up – and I didn’t. They had other tools in their toolbox, and they were willing to try less orthodox treatments that elsewhere had shown promise but were not yet proven – and I was willing to consent to sound reasoning.
Q. To what extent did your physicians use precision diagnostics and precision therapeutics?
A. While my doctors had run some genetic testing, they thought it was time for more genetic testing since the field was quickly changing. It was not entirely clear to me how or why! We knew I was HER2 positive and negative for Lynch Syndrome. After the review of my laboratory data just prior to the start of my fourth line chemotherapy, my oncology team called me following a Tumor Board meeting with much unexpected excitement. Apparently, the genetic testing revealed that I was MSI High (Microsatellite Instability- High), which answered some of the questions about my constantly odd and inconclusive biopsy results.
But the better news is that this indication also made me a possible candidate for the immunotherapies that were showing success in solid tumors and melanomas that had similar genetic profiles. We agreed to forego chemo for the time being and try either Nivolumab or Keytruda–whichever could be secured under compassionate use guidelines. The plan was to try this therapy for a few months, re-scan, and see where we were. I also had concurrent radiation. With much anticipation, scan day finally came and, indeed, there was significant resolution, followed by complete response in the months to come!
Q. What happened next? How was your recovery?
A. While the FDA has still not approved Nivolumab for esophageal adenocarcinoma (though approved for most MSI-H indications), I gratefully remain on Nivo with little or no adverse events and continue to have “no evidence of disease” (NED) cans. I know not to take any of this for granted. Not a day goes by that I don’t know how fortunate I am. Had my team not pursued precision medicine, I am certain the cancer would have outrun the chemo alone.
I continue to read with much vigor and interest, to always be knowledgeable for myself, my family and anyone that needs some advice that might help them survive. I would not be here if it were not for others that shared their knowledge, experience, and connections. I hope to pay this forward. There are never any guarantees, but knowledge can be power. And above all, self-advocacy was key in buying me the time needed for precision medicine to take over.
Q. What tests are used now by your doctor(s) to track your recovery status? How frequently do you return for check-ups?
A. At this time, I am taking an immunotherapy holiday due to Covid-19. Having been on it for several years, and after discussing with my oncologist, I feel safe with suspending treatment and even wonder if I can go without long term. The problem is there really is not sufficient data in any cancer, but particularly mine. No one really knows. I am out in front of the research.
Because I have been so atypical/asymptomatic all along, I had been seeing my physician once a month (at every other infusion) and am re-imaged about every 4 months. All has been very gratefully clean, only showing residual collateral damage in the lungs, etc. After the Covid-19 holiday, we’ll have to re- evaluate. Some days I think I will resume – why fix what is not broken? – but I also know that no treatment is completely benign, and no one knows the long-term effects of immunotherapy. I do struggle with body fatigue and other minor things, and I’d like to count on a healthy, uncompromised future. And full circle: I continue to exercise daily and rarely even missed a day during treatment. I think this is a big part of my success.
Q. Any final thoughts for patients? doctors? researchers?
A. Honestly, I would implore patients to listen to their gut. Do the research. Ask questions and keep looking for the medical team that can be on the same team with you. I would implore physicians to listen. Not every case is the same. Additionally, remember other patients can sometimes be the best source of information on treatments, side effects, and all the real-life issues that don’t get discussed in the clinic. In fact, it may be we outliers that provide clinical information that matters for more typical patients. And, though I know physicians are sworn to the Hippocratic Oath, when a patient is stage four and near end of life, please consider options outside of standard of care. It’s what saved my life many times over.
Dana Deighton is an accomplished and enthusiastic marketing professional with decades of experience in corporate marketing and publishing, membership, and partner/ project management. After 25 years at National Geographic, she is now in a new career in the health and wellness arena at Inspire, the leading social network for health, whose mission is to accelerate medical progress through a world of connected patients. Outside of work, she is also focused on healthcare advocacy and policy. In addition to serving as an Executive Board Member of ECAN, she is a Patient Representative on the Locally Advanced Esophageal Cancer Guideline Panel for the American Society of Clinical Oncology (ASCO) and serves on the Esophageal and Stomach Cancer Project Patient Advisory Committee, a project led by the Broad Institute of MIT and Harvard (a nonprofit academic research institution whose mission is to dramatically accelerate the understanding and treatment of disease). Dana lives in Alexandria, VA, with her husband and three teenagers, and enjoys travel and walking and running outdoors.