“What kind of cancer does he have?”

When I get that question, I answer it. At first my answer was “Primary Disseminated Embryonic Tumor.” Later it shifted to “PNET – Primitive Neuroectodermal Tumor.” Often followed by quizzical looks from people with knowledge of childhood cancers. “He has what? What does that mean?”

The rare presentation of Shawn’s disease is what caused it to remain undiagnosed through 13 admissions over 7 months. He does not have a primary tumor. There is no discernible mass that can be seen on an MRI or CT scan or any of the other scans he had over that time. As the doctor explained it to me, when the cells began dividing they immediately spread out throughout his entire central nervous system. Like rebellious teenagers. At some point, tiny nodules formed on some cranial nerves and one on his spinal column and eventually the neurosurgeon decided that the benefit of attempting to biopsy it finally outweighed the risk of doing so. She was able to get enough tissue for the pathologists to get the broad diagnosis and confirm the malignancy but we would never know exactly where the cancer started, where the “primary tumor” was. And that location is what gives the more granular diagnosis. There wasn’t enough tissue, I was told, for the doctors to be able to do genetic testing on the little tumor. It didn’t really matter, she said, because the treatment is the same for the different types of PNETs and the apples-to-apples comparison isn’t the location of the primary tumor but that the cancer was already disseminated. That’s the part that matters most for the prognosis and the aggressiveness of the cancer and the treatment. His cancer cells are “really smart.” They learned early how to travel throughout his central nervous system and evade detection. They might be harder to get rid of. And we won’t ever really know if they are gone. We’ll do the treatments, we’ll monitor his symptoms, we’ll do regular scans for years. That’s the best we will be able to do, at this point in history anyway.

On Thursday Shawn’s doctor called to tell me that they had been able to do genetic testing on the cancer cells after all, and that the results were in. I grabbed my computer, opened Notepad, and began writing as she talked. This is what I wrote:

Chromosomes 4, 7, 17, 11

duplication of chromosomes 7 and 17q

medulloblastoma
embryonal
cerebellum

SJBM03 protocol

Groups of 3 or 7 b
High risk and harder to treat.

So now I have more stuff to Google. And so do you, if you’re interested. I’m not going to try to claim that I fully understand it all yet so I’m not going to try to summarize what it means. What I do know is that his doctor told me that it’s very likely that Shawn’s cancer type is Medulloblastoma. That the first cell to “mutate” (although it’s my understanding that “changed variant” is the current preferred term) did so in the medulla of his brain stem. When that happened and why that happened remains a mystery.

What does it buy us? Not much. Something to google. Less quizzical looks from other cancer parents and patients. Perhaps some level of identity or group affiliation. I started this blog as a chronicle of of my experiences as a parent of a child with a serious but undiagnosed illness. Back then I had almost nothing to google and no way of finding other parents in the same situation. There were three directions it could have gone – infectious, immunological, and malignant. Malignancy, cancer, remained furthest down the list for most of that time. Until it wasn’t. And then it still took two more months to kinda sorta finalize an actual diagnosis.

CHOP, like most modern hospitals, has an online portal that patients and parents can use to track appointments, medications, test results, etc. For most of our time there, Shawn’s “Health History” listed Headaches (noted September 2015) and Eczema (noted April 2009, when he was six months old). He’s always been a pretty healthy kid.

The week of the biopsy, “Headaches” disappeared and only eczema remained. I assumed that perhaps it was in the process of being updated but nothing has ever replaced it. At his last appointment, I asked the doctor about this. She showed me the long list of things that have come and gone from his chart that they can see. It must be a glitch, she said, maybe there’s a tech support number you can call. We looked together and couldn’t find one. She assured me that the doctors and nurses and other CHOP staff can see everything. But every time I log in, I see only the seven year old eczema diagnosis. That’s some pretty complicated and expensive eczema.