Michaela M

At the age of 40 in December 2015, I gifted myself with an appointment to meet with a genetic counselor to gain some insight into why almost all of my immediate (and several of my extended) family had been diagnosed and subsequently died from cancer.

After testing me for 11 potential different genetic mutations based on my family medical history, they found that I have Lynch Syndrome, with mutations in the MLH1 and PMS2 genes. This basically means I have a much higher lifetime risk for developing different cancers, namely 85% increased risk for colon and 40-60% increased risk than the average person for endometrial cancer, and several other types of cancer to slightly lesser degrees.

So per the genetic counselor’s recommendations, in March 2016, I had my first colonoscopy, and of course, they found a mass in my ascending colon. I was scheduled for a colectomy and total hysterectomy in May 2016. I went for a second opinion at the University of Chicago and even a third opinion at the Cleveland Clinic. They both agreed with this treatment plan at the time.

So I went ahead with the surgery. When I woke up, they told me they couldn’t actually complete the surgery as planned because the cancer had spread throughout my omentum, the layer of tissue blanketing my digestive tract, “like sand” and into my lymph system. I was officially diagnosed with stage 4 metastatic colon cancer and told that I “should get ready to start chemotherapy in the next couple weeks, as soon as my port was placed”. I was also told the average life expectancy for this diagnosis was anywhere from 12-24 months.

I was not enthused about my prognosis and what felt like a cookie-cutter treatment plan for what did not feel like a cookie-cutter diagnosis.  By “not enthused,” I mean to say I was completely against it and resolved that there must be another way.

So, as I recovered from what ended up as an exploratory surgery, my friends and family teamed up with me and we started an intensive research project to figure out what other options there might be for me. We happened to find a small nonprofit called I Have Lynch Syndrome, which doesn’t exist anymore. The woman who ran it has Lynch Syndrome herself and spent many years as a patient advocate to help people like me find information because it was so hard to find.

We got in touch and she directed me to Dr. Luis Diaz at John Hopkins and his clinical trials with the immunotherapy drug called pembrolizumab, or Keytruda®. I gave his office a call and he personally called me back within a couple hours. I told him about my diagnosis, he asked if I knew if I was microsatellite instability high (MSI-H) or DNA mismatch repair deficient (dMMR). I told him “I think so?” I had my labs emailed over from Chicago to Baltimore, and he said “Yep, you’re all good! Let’s get you set up!”

He searched near me and found a satellite site for one of his clinical trials at the University of Chicago, first with Dr. Manish Sharma, and then I was switched to Dr. Blase Polite when Dr. Sharma moved back home to Michigan after our first year together. Dr. Diaz made the call for me and I was quickly set up for the initial appointment.

It was a phase 3 clinical trial comparing traditional treatment to this new drug pembrolizumab as a frontline treatment (meaning I hadn’t had any radiation, chemotherapy, or surgery prior) for stage 4 colon cancer. My name had to be randomly selected to be put on one treatment or the other. If one treatment stopped working or my disease progressed, I could switch to the other. So I had to make the decision to participate knowing that I might get put onto the chemo treatment first and would have to go through that—knowing that it wouldn’t work for me, because they had already told me it wouldn’t—but then I could eventually get the immunotherapy afterwards. (Whether or not it would work the same after chemo was another factor I didn’t even have time to consider then.) That whole part of the process was definitely nerve-wracking. But luckily, I got selected for the immunotherapy treatment. [Exhale!] And once I was selected, I started infusions right away, every three weeks.

For the first year, treatment was pretty smooth. Aside from a little fatigue the day of infusion, I had little to no side effects. I felt really pretty good, was able to live my life normally, and stayed busy with my kids and all kinds of physical activities.

About a year after I started treatment, I started experiencing increased fatigue and shortness of breath, all the time, even laying down.

In the beginning of May 2017, I was diagnosed with pneumonitis, a rare side effect, which basically meant that my immune system was now in overdrive and my lungs were cloudy with white blood cells. I was treated with a course of high-dose steroids for about two months, tapered down and came off of that rollercoaster in time to sing for my brother’s wedding. I sang for the wedding on July 1, but the next day I had a fever and went back to the hospital. X-rays showed the pneumonitis was back with a vengeance. I went back on the steroids and tapered down more slowly this time. By early October, I was down to a very low dose of steroids, riding my bike, and feeling great.

A month or so later, we took a family trip to New Mexico. I felt tingly in my face and neck on-and-off while we were there. I thought it might have been the altitude., but on the plane heading home, I had a hard time breathing. They had to announce over the loudspeaker, “Is there a medical professional on board?” A registered nurse sat next to me and held an oxygen tank for me.

I started another round of steroids right away, and this time, I asked for specialists to intervene. This had gone on too long. My oncologist brought in a rheumatologist and a pulmonologist. They did a lung biopsy, respiratory functioning tests, and bloodwork for autoimmune diseases that they suspected could have been triggered. But nothing showed up. I just had to wait it out.

Meanwhile, my lymph nodes were shrinking, but my blood sugars are off the chart. (Did I mention I’m also a diabetic?) The steroids wreaked havoc with my blood sugars, and sometime before the holiday in December, I end up in the hospital for borderline ketoacidosis because we realize the steroids messed with one of my diabetes meds. We got my sugars under control, but then I had what they call “moonface,” “round belly,” and my personal favorite, “buffalo humps,” from the steroids as well. I had never heard of these things and I’ll be glad to never have to deal with them again. (Although, of course, I had to renew my driver’s license on my birthday in December that year, so I’ll have that photo to remind me for a while.)

All kidding aside, those side effects subsided, but the pneumonitis stuck around for a total of 8 months. (I was told the typical duration was maybe three weeks and the rate of occurrence was maybe 3-5%.)

But I survived! And by the following summer, there was just one little pesky lymph node that didn’t seem to want to shrink, so we just continued to watch it for the next several months until finally, my oncologist said, “why don’t we just remove it and let you get on with your life?” (or something like that).

Removing it meant a hemicolectomy because of the way the veins are wrapped around the colon there. We thought, “ok, fine! But let’s do another colonoscopy and see what’s going on in there now post-treatment, right?”

I don’t know about you, but I stay semi-awake for my colonoscopies. I mean, I had to see this one for myself! Just in case you don’t know, you cannot see what is happening inside the bowel with a CT, which I was getting every nine weeks. So we were just assuming the tumor in my colon was also shrinking like the lymph nodes we were watching on the CT scans. I hadn’t had a colonoscopy in three years since my initial diagnosis. And guess what? My gastrointestinal doctor couldn’t even find scar tissue from where the original tumor was. It was completely gone—not a trace! She was practically giddy! When she called me the next day with the official lab results, she said the lab had to call her back and double check that this was a stage 4 colon cancer patient. They couldn’t believe it.

A few months later, my oncologist told me they have been finding that, sometimes, more severe side effects indicate a patient’s tumor would have a stronger and more durable response to immunotherapy. I haven’t seen the paper on that with my own eyes, but I’ll take it.

I did end up having that hemicolectomy in April 2019 and have had no evidence of disease since then and still going strong!

I haven’t—and don’t want to!

To some extent, that I survived! But also, I feel so strongly about being firmly rooted, that it couldn’t have happened any other way. I just have to make the absolute best of what I’ve got and do whatever I can to help more people have positive outcome experiences like I have been gifted. I really feel I have been gifted with something sacred that needs to be shared. 

I carry my doctors and healthcare professionals, all the medical researchers, in my heart wherever I go, just like I keep my ancestors with me. I know I didn’t get this far on my own, I am still here so that I can help others, share my experience. This experience has enriched some of what I feel my purpose is and I take that seriously.

(1) Scientists and clinical researchers need people to continue participating in clinical trials so that they can continue to improve their approach, their understanding, how they can tailor this therapy and care for each person so that it fits everyone just right.

(2) It’s so important that we use our voices as patients to share treatment side effects and any other potentially influencing factors, stress and nutrition included. It’s also important to ask any questions we have. I always do my own research and bring research articles to my appointments. I ask my doctors to help explain or confirm if my strategy is on the right track.

We have to be our own advocates and make sure we fully understand what’s going on, what the plan is, what all the risks and benefits are, and what all the potential options are.

(3) Cancer immunotherapy is changing and developing so rapidly, so make sure to ask about it! There are more clinical trials testing immunotherapy on its own or in combination with other anti-cancer drugs. It’s happening so fast I don’t think doctors around the country or around the world are even all on the wagon yet. It’s important to ask.