Tag Archives: Precision medicine

Personalize Medicine: A Personal Story

breast cancer

Maybe you’ve heard of it: Personalized medicine. Or sometimes it’s called precision medicine. The idea is that through a series of tests, researchers decode a cancer patient’s DNA plus the DNA of the tumor to see what’s gone wrong. Then they find drugs to “fix” or bypass the problem in hopes of creating a cure.

For some cancers, this has gone splendidly well. For certain types of blood cancers and even rare cancers, it’s been a game-changer.

Breast cancer, though, is still in precision medicine infancy. And for me, who only has cancer in small spots on my bones, it’s been a fight to even get a seat at the table. Part of the problem has been that biopsies of bone tumors are unreliable. That’s because the tumor mixes in nicely with the bone, so that when a sample is taken, you need to separate the two, usually by dunking the sample in acid to disintegrate the bone. You don’t need to be a rocket scientist (or even a cancer researcher) to figure out that that’s going to be a problem that could alter the tumor cells.

My first biopsy to take advantage of this new research was two years ago. The sample wasn’t good enough – there weren’t any cancer cells in it. By the time I got the results, I was on a treatment that was working so my oncologist recommended waiting until it failed (plus, I imagine the health insurance company weighed in, refusing to pay for two biopsies so close together).

This past summer that treatment stopped working and it was time to take a look at new options. I underwent another biopsy and this time – hallelujah! – there were cancer cells in the sample. Not a lot. Only 20% of the sample  was cancerous. The rest were normal cells. Pretty remarkable, if you ask me.

The findings: My DNA, as far as they can tell, wasn’t preprogrammed for cancer. That means the cause is likely environmental.  As far as the tumor’s DNA, researchers could only find three things wrong with it. For one, my AKT1 “is mutated at low frequencies” – meaning the gene is broken. This gene has to do with putting together proteins so the cell can carry on healthily. I also have an amplification of two genes – PAK1 and PTP4A1 – meaning, there are far more of them than a healthy cell needs or has.

The good news is that there is a drug in clinical trials called AZD5363 that turns off the AKT1 gene. More specifically, one of the three clinical trials available targets breast cancer, using the drug in combination with both an anti-estrogen drug and an anti-androgen drug. Turns out, my tumor is scarfing down both of those hormones.

The bad news is that it’s very unlikely I’ll qualify for the clinical trial because my cancer is only in my bones, a clinical trial exclusion. Researchers like to look at tumors they can see, not tumors mixed up with bones that are hard to get a read on.

Still, I’m not undaunted. For now, I’m on a low-dose chemotherapy drug called Capectitabine that seems to be working. My blood tests are coming back nearly normal. I’m heading for a PET scan in two weeks which will let me know for sure, but so far my blood tests have been reliable. According to research by the MBC Project, this drug seems to work for a longer period of time than other treatments. I’ve been getting about 18 months out of a treatment before it fails. It would be great if I could get more time than that.

Second, the FDA is liberalizing it’s “compassionate use” policy. This allows a patient like me to appeal for a promising drug, even though I wouldn’t be included in the clinical trial. It’s a deal the pharmaceutical company or researcher would also have to sign off on (particularly because they offer the drug for free under compassionate use). A recent study showed that when asked, drug companies usually say “yes.” We’ll see if that changes with the new FDA policy.

Fighting cancer is a lot like playing pool. The goal isn’t just to sink a ball into a hole, but to also line up the next shot. For me, that means reaching out and making contacts among researchers, drug companies or the FDA who will be beneficial when this treatment fails so I’m not flailing around when it does. I learned this past summer, the appeals process can take longer than I have to give it.  I just don’t have time for the learning curve.

In the meantime, I’m tuning up my brain, reading books like The Organized Mind” Thinking Straight in the Age of Information Overload by Daniel J. Levitin, which has a chapter titled: Organizing Information for the Hardest Decisions When Life is on the Line. I’ve learned that going forward I’m going to be forced to make life-altering decisions with limited information that is constantly changing.  I may make a decision today and tomorrow get new information that would change the decision entirely. Sometimes I can change my plan based on the new info, sometimes I can’t. The best I can do is prepare a strategy that allows me to evaluate the best option in the moment.

For now, that will have to do.

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Right to Try is a lie

I will prevailWhen the President signed the Right to Try law at the end of May, I suddenly went from persona non gratis as a #preexisting condition to a terminally ill darling  whose life Congress and the administration were gushing to help save.

That was until yesterday when I actually tried to use the law to my benefit.

Maybe you’ve heard of this thing called “Precision Medicine” which is ushering in a new age in cancer treatment. Thanks to DNA decoding, cancer patients like myself can have their tumor’s DNA decoded to see if it offers any new information for treatment options.

In my case, new pathology shows my tumor is 100% androgen positive, in addition to being estrogen positive. That means the tumor, now deprived of its estrogen feast because of the numerous anti-estrogen drugs I’ve been on, is now slurping down androgen to survive.

The problem is the anti-androgen drugs on the market are so far only approved for prostate cancer, not breast cancer. There are clinical trials underway for breast cancer, but I don’t qualify for them.

That’s where the Right to Try law offered some hope. Its goal, at least we were told, was to give terminally ill people like myself the option of trying drugs that weren’t yet approved by the FDA for treatment of my type of cancer, but had shown promise. All I needed to do was sign an informed consent that said I am willing to serve as a guinea pig and accept all the risks that come with it.

I knew going into it there would be appeals and denials. One thing I didn’t expect was how cavalier my pharmacy benefits manager Prime Therapeutics would be. My oncologist scheduled a peer-to-peer appeal – where their doctors hear out her arguments over the benefits of this drug – to take place while she was on vacation. For whatever reason, they couldn’t make the call and rescheduled it a week later.

I’m only a terminally ill patient who’s not on treatment. What’s another week’s wait?

That appeal was schedule for 11 a.m. yesterday. When the panel failed to make the call, my oncologist’s team went to work tracking them down. An hour later the benefits manager sent an email saying the appeal wouldn’t be heard. End of story.

Obviously I was frantic. Didn’t they know about this Right to Try law? Certainly my patient rights have been violated. I spent the next hour looking for news articles, testimony, anything I could find about it. Finally, I found the text of the law.  One, single page. I’ve never known a law to be written so succinctly.

When I read it I learned that it offers patients nothing, in fact it expressly states that it creates “no mandate or entitlement” for patients. The only thing it does is let drug companies off the hook should they agree to offer me the drug, it doesn’t work or I get some horrific side effects and want to sue.

This point was completely missed by the press coverage of the new law, which went to great lengths to talk to doctors who obviously don’t spend a lot of time with the “terminally ill”  but were more than willing to talk about how innocents like myself were now sure to be duped or misled by the holy grail of a treatment promise.

Even the law as it’s written seems to see those of us who are terminally ill as frail, bed-ridden, desperate folks looking for some Hail Mary pass that will buy us a few days or a month of life.

Sorry folks, that’s Hollywood, not life. Most of us live quite active, robust – even athletic lives. The way we extend those lives is a series of running plays – drugs that we’re guaranteed at some point will stop working, but that have added days, months, sometimes years to our life.

The more drug options we have to stave off our disease, the longer we have to live. And hopefully somewhere in that timeline a more effective treatment comes online.

In order for a Right to Try law to be effective, it needs to address all the players – the drug companies, the health insurance companies, doctors, hospitals, patients, caregivers and researchers.  And we need to see ourselves as part of a team whose goal is to create optimum health, quality of life and longevity.  We need to lose this “us against them” mentality where the patient seems to be the biggest loser.

There’s a lot of reason to hope with what’s going on in the world of cancer. But what’s the use of any of it if patients can’t take advantage of the progress being made?

 

 

 

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