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Novartis Know Now: Knowing Deborah’s BRAF Status Saved Her Valuable Time

Meet Deborah Wassertzug – a melanoma survivor who benefited from knowing her BRAF status early on, changing the course of treatment. Learn more about Deborah’s story and why it was important for her to Know Now and get tested for the BRAF gene mutation in her guest blog.

I am so grateful that my BRAF status was determined early on, before it was so urgently needed.

debI was first diagnosed with melanoma in April 2013. I lived in New York City at the time, and my dermatologist referred me to a surgeon at NYU when my biopsy showed a malignancy. I underwent surgery which included a sentinel lymph node biopsy. While there was no lymph node involvement at the time, the pathology report did indicate evidence of melanoma in transit — cancer cells on their way to do more damage. I had a brief course of radiation to the incision site on my back and followed up with scans. I was introduced to my medical oncologist at NYU, Dr. Anna Pavlick, now of Weill Cornell, but I confess I didn’t pay much attention to what she told me at that time. I had come through my surgery and radiation, and I was ready to be done.

In September 2014, I went for another CT scan. I came to my appointment with Dr. Pavlick entirely unprepared for the news she would give me: there were spots on my lungs and my lymph nodes were swollen. This time, I tuned in more closely to what Dr. Pavlick had to tell me. “Your timing is excellent,” she insisted. By the Fall of 2014, treatment of metastatic melanoma with immunotherapy was no longer an experimental protocol but had become the standard of care. I was offered the opportunity to enroll in a research study that was being conducted at NYU to see whether a short course of radiation to my lung might boost the effectiveness of the immunotherapy drug. Since the time of my treatment protocol, radiation has now become part of the standard of care for treatment of metastatic melanoma. I’m so proud to have been one of the patients who helped carry the science forward.

Before treatment began, a lung biopsy awaited. This was a CT-guided process that would use a fine needle to extract a tumor sample and confirm it was indeed melanoma. What I hadn’t quite focused on was something else Dr. Pavlick had mentioned to me: they could genetically sequence my tumor to provide information that would not be needed for my upcoming immunotherapy treatment, but rather something to “keep in our back pocket” in case it was needed later on.

I filed that back-pocket information in the back of my brain. The lung biopsy was performed. A little bit of drama followed – my lung collapsed, a known potential side effect of the biopsy procedure, landing me in the ER for 36 hours. And then, a lot of drama followed. I got the short course of radiation and managed two infusions of the immunotherapy drug before it gave me a severe case of colitis. I was unable to continue treatment, and it took several weeks to recover from the illness. Luckily, I did fully recover right in time for Thanksgiving dinner!

I continued to be followed with scans, and the tumors in my lungs kept shrinking despite the cessation of my treatment. In January 2015, I had an MRI of my brain due to some headaches I had been experiencing. The scan found nothing. My next CT scan was set for April 2015. I had just started a new job a couple of months earlier and came home exhausted every night. I assumed that my fatigue had to do with having an hour-long commute in each direction, plus two young boys at home.

In mid-April, I had a follow-up CT scan and the next day, I was scheduled to see Dr. Pavlick for my results. I worked in the morning, and suddenly noticed I was having trouble finding words to speak. I thought I was just nervous about getting my results. I waited in the exam room for Dr. Pavlick, and when the door opened, I saw her and Nurse Practitioner Rajni Kannan exchanging a high five in the hallway. I soon learned that high-five had to do with me. In spite of the aborted treatment for my lung metastasis, and in just seven short months, my lungs were NED (no evidence of disease)!

I wanted to be as elated as everyone else in the room, but I was just so tired. I neglected to mention my speech problems to Dr. Pavlick, because I didn’t think it was much cause for concern, at least until the next morning when I returned to work and had the same problem finding words. By noon, I realized something was wrong, and my phone call to Dr. Pavlick’s office yielded a stern command to get myself to the ER, stat.

After many hours in the ER, I was finally able to get a brain MRI. What they found astounded me. In 24 hours, I had gone from being pronounced NED to having nine tumors in my brain, including a three-centimeter tumor in the part of the brain controlling language.

I was admitted to the hospital overnight, a yellow FALL RISK bracelet was placed on my wrist and the neurologists kept asking me what year it was, which I knew. I was released the next morning, sent directly to Dr. Pavlick’s office, and immediately informed that it was time to use the information they had in their back pocket. The tumor in my lung had been BRAF positive, and there were targeted therapies already on the market that were tailor-made to combat this specific melanoma mutation. These drugs would also penetrate the blood-brain barrier, which was crucial. I began taking one of the medications right away, along with steroids to reduce the swelling in my brain. Within days, my speech problems disappeared, and within six weeks, my tumors had shrunk enough for gamma knife surgery in June 2015. The tumors continued to shrink, and except for one, which began bleeding again in November 2015, prompting a second gamma knife intervention, all the tumors have now shrunk and are considered inactive.

The unbelievable pace at which melanoma treatment has advanced in the past decade is something I am truly grateful to have experienced first-hand. Today I am still stage 4, but with no active disease, a designation unthinkable for most metastatic melanoma patients of the past. I am so grateful that my BRAF status was determined early on, before it was so urgently needed. Given how quickly metastases can occur, it is essential to know that your care team has your case well in hand, and in their back pockets, too.