A Diagnosis

The pathology results arrived in My Chart the Friday afternoon before Memorial Day. I knew I shouldn't open them. I knew I should wait for the oncologist to explain everything, but I didn't. 

The tumor's mutations were:

• H3K27M
• FGFR1
• NF1

The diagnosis: 

• Diffuse Midline Glioma

Google prognosis: Poor. Median survival less than a year. Put the results into AI. Same thing. Aggressive, likely to return, poor prognosis. H3K27M is associated with worse outcomes. Median overall survival is less that a year. 

I knew for a week before I told anyone else. My husband wasn't ready to know, and I didn't want to talk to anyone else about it before we could discuss it together. My husband would randomly find my crying in the bathroom. My kids would see me crying in the car. I did my best not to spiral, but I couldn't stop myself. I googled everything about DMG. I read academic articles about it. I joined Facebook groups about it and read through Reddit posts. Instead of working, I spent an entire day researching, reading about people's experiences, and spiraling. 

A few days before our follow-up oncology appointment, I told him that I had to tell him. I couldn't carry this by myself anymore. It wasn't fair and he needed to know. I was glad we had that conversation because the oncologist called us with the results the next day. 

Since then, I've come to realize how little anyone knows about this kind of cancer. H3K27M was only discovered in 2012. DMG became a separate classification from DIPG (Diffuse Intrinsic Pontine Glioma) in 2016. Gross total resection of DMG is rare. It is either diffuse in the brain or deep in the midline structures, making removal difficult if not impossible without seriously damaging healthy brain tissue. We are very lucky hers was in an operable location, that her surgery did not lead to lasting damage, and that they were able to get all of the detectable traces of tumor. The median survival is not accurate in her case.

At this point in time, there are no medications to treat DMG because no one's tumor is exactly the same. ONC201, which targets H3K27M, is up for FDA approval in August, but right now it is only available through clinical trials. ONC201 has given people longer lives and reduced tumor symptoms. I am hopeful it will be available when she is done with radiation. Inhibitors for FGFR1 are also only available through clinical trials, but there may be treatments for NF1 we can do. Mainly, our options are radiation and then maybe a clinical trial IF she qualifies. Though without active disease, it isn't likely she will. Aside from chemo, which doesn't typically work for this kind of cancer, our other choice is to do nothing, which means the tumor is likely to return more quickly.

From here, the doctors really don't know how her tumor will act. Will it come back in a few months or will it be years? Will it come back in the same spot or will tumors grow in other, less operable places?

On top of all that are the spots on her spine, so tiny that they barely register on an MRI. Are they cancer or not? The MRI says likely. The lumbar puncture was negative for cancer cells. We have a special MRI next week that will show how the spinal fluid in that area is moving, but how much will they be able to conclusively determine from that? And if it is cancer, are the available treatments effective?

We have a lot of questions and very few answers. We are taking shots in the dark.

As a result, I've been trying to live with where we are right now. I have a kid who feels like her normal self, who does not have a brain tumor. She can swim and run and dance and jump on a trampoline if she wants to. We will do radiation for 6 weeks. She will get more MRIs. She will return to school in August. We will try out available medications. She is not dying from cancer today, tomorrow, or a month from now. We will focus on what is good and try not to worry about what we can't know or control. I will keep repeating this to myself. 

 A song to about enjoying life

Romy, "Enjoy Your Life"