Something Amazing Just Happened
At 9 a.m. this morning, Dr. Yamashiro (Ana’s oncologist from Columbia) called. “Is this a good time to talk?” He asked.
“Of course,” I said (lied). I was actually a little worried he was mad at me because I’ve been badgering Dr. Middlesworth with emails over the last couple of days to the point where he (Dr. M) sent me an email which started with the phrase…”Perhaps you should see another surgeon, in whom you have more confidence.” Now, I totally brought that on, so don’t be mad at the surgeon, please. This was after two frantic emails I sent after (foolishly) researching bad outcomes of thoracotomies online. The only reason I’m even admitting this now is to set the stage for what was about to happen. So where was I…
Me: Yes, yes of course it is.
Dr. Y: We got some of Ana’s genetic test results back yesterday and results aren’t what we expected.
Me: (holding breath with visions of chemotherapy filling in my head…)
Dr. Y: There’s a fusion of two genes that’s very novel – meaning, we’ve never seen it before. This fusion involves a receptor called IL23 which activates certain pathways involved with inflammation that cause the gene to be continually “on” – there may be a drug that targets IL23. (disclaimer: I have no idea if I am typing this exactly as he explained it – it’s very complex genetic stuff).
Me: (Frantically typing) Um.
Here’s my further intepretation of what Dr. Y explained. The drug, called ruxolitinib, inhibits the pathway associated with this receptor (the JAK pathway). The drug is approved for something entirely different than what Ana has and has only been used in adults. However, it’s been tested on children and data on the results of this test was published in an oncology journal just a couple of weeks ago. Dr. Y. reached out to the author of that study (someone in San Francisco), to try to get contacts for the company that makes the drug.
They want to test the drug on Ana, but since it is so new and her case is so rare, getting their hands on it will take some work. They also may have issues getting it approved from the insurance company – hopefully that won’t be the case because I am paying a LARGE sum of money to the IRS tomorrow and will barely have two dimes to rub together for a couple of weeks (at least) – so FUNDRAISER?? Perhaps – but we’ll cross that bridge when and if we need to.
I began firing questions at Dr. Y as follows.
Me: So what’s the plan? Is she still getting surgery on the 23rd?
Dr. Y: No. I spoke with Dr. Middlesworth yesterday and we both agree that it’s important to explore this given the latest information.
Me: Are we putting her in jeopardy by waiting? Now that you know there’s a gene mutation, do have a sense of how fast the tumors will grow?
Dr. Y: I don’t feel she’s in any jeapardy by exploring this option. If the mutated gene responds to the drug, then we could see a reaction very quickly – either a cessation of the tumors growing, or a reduction in size.
At this point Jim came home from having dropped the girls off from school and found me a trembling mess on the couch with speaker phone turned on. I asked Dr. Yamashiro to explain everything to Jim and he patiently went through everything again).
Jim: What’s your sense that this new drug is going to work?
Dr. Y: If it inhibits the mutated gene, then I am optimistic it will be effective but there’s no way to know for sure.
Me: So what’s the next step?
Dr. Y: I have to organize some things here. We’ve reached out to the suppliers of the drug and we’ll want to do two PET scans within a week of each other. If the drug is working, we’ll see the metabolic activity decrease very quickly (even if tumor size does not decrease right away). The PET scans will give us a good sense as to whether the drug will work, but your insurance may not want to pay for the scans so close together. I’m looking into seeing how the hospital can pay for the second scan if insurance doesn’t want to cooperate.
Me: What about the interaction with her anti-rejection drugs, is that an issue?
Dr. Y: I need to discuss all of this with Dr. Martinez still – that’s on the list. (Dr. Martinez is on vacation this week)
Jim: How does she take the drug? Is it an infusion?
Dr. Y: No, it’s a pill
Jim: What are the side effects?
Dr. Y: I don’t know – I’ll need to look it up.
Me: (already on the drug’s web site) – it says the biggest side effects are thrombocytopenia, anemia and neutropenia (low platelets, white blood cells and red blood cells) – basically, this will make Ana more susceptible to infection. Hair loss is NOT a side effect.
Me: Can you assure me that my recent hysteria is not the reason why you’re canceling the surgery on the 23rd?
Dr. Y: I assure you this is not why. This is brand new information that we just learned yesterday and that no one expected to see. This is the first gene fusion we’ve identified of its type. The genomic sequencing technology is brand new which is why we’ve been able to identify it. It’s reasonable to wait [for the surgery] since there is a drug that may work. I believe waiting for the drug is worthwhile.,
Me: So this is a big deal?
Dr. Y: Yes! We discussed this case with a molecular tumor board and no one expected this finding.
Me: (holy crap, holy crap, holy crap…I will NOT get too excited) Thank you so much for calling.
And there it is – another great big twist in this already twisted road. I am feeling so many things right now – but mainly RELIEF that Ana doesn’t have to face surgery two days after we get back from the Make A Wish trip. I just had such a bad (crazed, panicked) feeling about doing it so soon after vacation.
I am allowing myself to be optimistic and hopeful. Well, okay, it’s taking actual physical effort for me not to run around whooping for joy, but I really have to remain cautiously optimistic and that is all. This feels very much like a long shot, but at least it’s a shot!