Published on February 25, 2020
- Ask lots of questions until you understand your options and request genetic testing.
- Seek out a center of excellence and always get a second opinion.
- Getting the right diagnosis can be a major change in course of treatment.
Multiple myeloma patient advocate Nancy Raimondi shares her story; from smoldering in 2006 to discovering she was high-risk in 2015. Watch as Nancy explains how her treatment plan changed, and why she credits genetic testing for achieving minimal residual disease (MRD) negative status.
This is a Patient Empowerment Network program produced by Patient Power. We thank AbbVie, Inc., Celgene Corporation, Janssen Pharmaceuticals and Takeda Oncology for their support. These organizations have no editorial control and Patient Power is solely responsible for program content.
Transcript | How Genetic Testing Results Changed My Course of Treatment
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I was initially diagnosed in 2006 with smoldering multiple myeloma, and I was followed over the next nine years—I just continued to smolder until 2015. I developed a plasmacytoma, and that got biopsied, and it was 60 percent myeloma cells, so I needed treatment, so I started treatment July of 2015, I was diagnosed as high risk, so I was put in a clinical trial that included carfilzomib (Kyprolis).
I had five rounds of chemo, did tandem stem cell transplants, and finished everything about seven-and-a-half months later. Went in maintenance therapy the first year, was when ixazomib (Ninlaro) was just released, so I was on Ninlaro, lenalidomide (Revlimid) and dex (Decadron) for a year, and then, that got changed to daratumumab (Darzalex), Revlimid) and dex, and I was on that for another year. And then, in December 2017, I was MRD-negative, and I’ve not been on any treatment for myeloma since then.
Nancy, you’ve been at this for a little while, so you probably understand a little bit more about genetic testing. What’s the impact been on you?
It’s a lot of alphabet soup. It’s hard to retain. But, yeah, I had genetic testing done right away once the myeloma became active, and I also had aggressive high risk. I had abnormal female karyotype, monosomy 13, the p53/TP53, and a translocation—but I forget which one. And, what was interesting is in my initial appointment with my oncologist, he thought I was low-risk and talked about treatment, but when all the final results came back, turned out I was high-risk, which meant completely different treatment. So, that was a shocker.
So, expand on that a bit. How did that high-risk change your treatment?
He recommended a clinical trial instead of what they were going to put me in, which included being treated with carfilzomib, which, at the time—this was 2015—carfilzomib was being used mostly for people who had relapsed, and they were doing a clinical trial to see about treating patients up front with it that are high-risk. Why wait until they relapse? So, I had that in addition to the PACE cocktail with thalidomide, something else—there were seven different chemos.
So, that was important that that high risk for you helped determine a change for the treatment, but you got into that clinical trial, and that was an effective trial, by the way, so that’s good.
Yes. It was definitely effective for me.
Over a year ago now, I had my genetics repeated, and all the abnormal stuff went away, so that was pretty exciting, because I was now MRD-negative, so that was very reassuring. And, I actually just had another bone marrow about 10 days ago now, so I’m still waiting for those results to see what’s happened.
And, are they going to test that bone marrow for genetics as well?
Because you might find there are changes. You might find there’s a translocation where there wasn’t one before, you might find there’s a deletion where there wasn’t one before, because this myeloma is a fairly tricky disease, and we talk about the myeloma clone as made up of a percentage of different mutations, some of which get cured by treatment, and others of which expand, because they were not affected by the treatment. It’s pretty interesting, in a lousy sort of way.
Nancy, how important do you think it is for patients to one, insist that they get some type of genetic testing, and two, to try to understand what’s going on?
Well, I think it’s extremely important. For me, it was a major change in treatment. Without genetic testing, I doubt I would be MRD-negative right now because my treatment path went along a completely different way. So, I think it’s extremely important.
I think everybody has a different level of what they can understand, and that it’s important for your oncologist to give you that information in language that you can understand, and to the level that you want. A lot of that’s going to depend on your background, your education, what makes sense to you. I came from a medical background, so I wanted a little more knowledge, and my doctor was great in giving that to me.
Yes, they definitely need to ask questions, and then, the physician needs to communicate in a way that the patient’s going to understand, because it is a lot of gobbledygook, and I often—I have a hard time understanding it with having a medical background, and I often wonder how you make sense of this without having a background. It’s difficult.
I think it’s real important for people to go to a center of excellence, at least for a second opinion, if not for your treatment. They are the cutting-edge people that are going to be able to treat you the best, and you can just google “center of excellence, multiple myeloma,” and you’ll get a list of all the centers all across the United States. I think it’s made a huge difference. I was treated at UAMS in Little Rock, and I wouldn’t have had it any other way. I was fortunate to be able to go there.
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