A Rare Occurrence

Doctor after doctor recommended a different treatment option to Marlene Portnoy’s husband, Steve, after he was diagnosed with a desmoid tumor. Research on the subject seemed out of reach until Marlene met Dr. Mrinal Gounder. Dr. Gounder is an oncologist treating sarcoma patients, and his understanding of desmoid tumors provided the answers they needed. In this episode of Your Stories, Marlene and Dr. Gounder recount how a rare disease brought them together and how their partnership is still improving treatment for patients like Steve.

Doctor after doctor recommended a different treatment option to Marlene Portnoy's husband Steve after he was diagnosed with a desmoid tumor. Research on the subject seemed out of reach, until Marlene met Dr. Mrinal Gounder. Dr. Gounder is an oncologist treating sarcoma patients, and his understanding of desmoid tumors provided the answers they needed. In this episode of Your Stories, Marlene and Dr. Gounder recount how a rare disease brought them together, and how their partnership is still improving treatment for patients like Steve.
It's a very scary thing to be diagnosed with a rare disease. In 2004, Steve had pain in his pelvis. And we were told that it was a hernia. We went to a surgeon. And he said that this is no hernia.
So went and got a biopsy and found out it was actually something called a desmoid tumor, which the incidence rate is two to four per million. So it's really rare.
We traveled to four different institutions around the country, each giving us a different treatment protocol, a different treatment option. And let me tell you, that's a really scary thing when doctors can't agree and don't know how to treat a disease, and don't know that much about the disease. And they all acknowledged that. Then we meet you, our desmoid tumor rock star.
My own experience with desmoid tumors is really one that of serendipity. I really didn't know much about desmoid tumors just 10 years ago. And stumbled into a very interesting case of a young woman who was either 19 or 20 at the time. She was a student at New York University and had been diagnosed with a desmoid tumor. Had a surgical resection. And then the tumor had returned very quickly.
We really started thinking, what else can we do for her? And based on some rational decision making regarding drug activities, and were able to get this drug. And lo and behold, as soon as she took the drug, within days her symptoms got better. And as weeks turned into months, her tumor started shrinking. And she had a remarkable outcome with this drug, which frankly really surprised us.
When we saw that one patient benefited, then we said, well, maybe we should really try this in other patients. We had many desmoid tumor patients who were really struggling through standard chemotherapies, or many for whom chemotherapies had stopped working. And they were living with this disease, really struggling with this disease.
And we decided we want to tell the story in a scientific way to the rest of the world. So we wrote a paper.
I knew of the paper. And I knew the positive results. And when patients would email me with questions of how to treat the disease and nothing seemed to work, I would attach this paper of this promising drug, promising treatment. And say, please bring this to your physicians and let them know about this.
And I'm going to tell you, I did this pretty frequently. And the feedback I got was tremendous. The results were fabulous. I remember thinking, oh my goodness, we have to move forward with this. This is a really important option.
So I remember coming up to you and saying, Mrinal, what are we going to do about this? We've got to do a clinical study.
So at your urging, you know, I really started thinking about what we can do to design a prospective phase III study, where we can really demonstrate the activity of this drug. And demonstrate its activity and, ultimately, bring it for patients use, not just in the United States, but worldwide.
So that process alone took about a year or two. And there were many, many, many roadblocks along that path. But looking back, there were many people who had helped me in that process.
We finally started this clinical trial, a phase III clinical trial, which was run both in the United States, as well as in Canada. One of the concerns, from the very beginning, is how are we going to accrue patients? How are we going to find these patients with these rare cancers?
And how are we going to bring attention to them to this study? And that accrual would be a major problem. In fact, it was one of the major deterrents to this study from the very beginning from people who are well-meaning, but who really worried that accrual would be a problem.
And we had so much, so much interest. I mean, how long did you think the accrual process was going to take?
We were estimating that our study, which only had 87 patients, to take a really long time. But in reality, in partnership with you, we accrued 87 patients in 17 months, which was absolutely astounding. I think the success of completing that trial speaks to the necessity of a partnership, especially in rare diseases, whether it's cancer or non-cancer, in this collaboration between drug companies, between academia, between patient advocacy groups, and even cooperative groups that have the network to conduct these studies. These can't be done in a single institution.
Mrinal, where do you think that we're going to go from here? I mean, it was remarkable. We have this phase III study that was recognized as one the top 10 breakthroughs in oncology in 2018, which you published paper in the New England Journal of Medicine. I mean, it brought so much awareness and recognition to desmoid tumors.
10 years ago, even in my wildest dreams, I think in none of our wildest dreams would have imagined that this study would be so positive, or would be recognized as one of the top 10 advances in 2018. I can tell you my goal has always been to bring this drug to patients so that this can be approved. And insurance companies can pay for this drug, not just in the United States, but really worldwide. I can only hope that this will move in that right direction.
When this study was successful, it really gave confidence to other companies to develop new drugs in this disease. And this is really a model not just in sarcoma, but really in all diseases, whether they're cancerous or not. I think there is a lot of exciting work that's ahead of us. I'm curious to see what the next 10 years will bring.
And you know what, just reach for the stars. Nothing is impossible.
Yeah. Yeah.
I think we've proven that.
Marlene's husband Steve recovered from his desmoid tumor with surgery and radiation. Marlene's experiences advocating for her husband launched the work she does now to ensure desmoid tumor patients have access to breakthrough research from specialists like Conquer Cancer Researcher Dr. Gounder. To support more research like Dr. Gounder's, visit conquer.org and make a donation today.
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