[the storm brews: how we got here]

AUGUST 9/14

This storm is a fierce one.   Cancer used to be a scary side-thought.  Let me explain...

In February, Mark was experiencing back pain that wasn’t relieved by chiropractic work.  When he was in increasing pain in May, we decided to request an MRI, and along with that, we thought we’d better get his gluteal tumour (as in the benign tumour that he’s had for many years in his butt), MRIed – yes, that’s a verb in my vocab – as well.

Mark had both MRI reports rattled off to him over the phone by nurses: the back MRI revealed disc bulges and herniations, and the butt MRI indicated that he had more small tumours around the existing large one, located on the branches of his sciatic nerve. 

What does this mean? 

Little answers were provided.  The back would take time to heal.  Physiotherapy was recommended.   The doctor we were referred to by our family doctor – a general surgeon – explained that Mark’s case was out of her league, and forwarded it to a panel of specialists.  He would likely see an oncologist – but not to worry – there was only a 2% chance of cancer and oncologists are just specialized in tumours – even benign ones.   A specialist would call...sometime.

More tumours?  Why was he getting more tumours?  These questions ignited many Google searches.  I believe it was the first site I click on that referenced a condition that primarily causes benign tumours to grow on nerves anywhere in the body.  Neurofibromatosis – NF for short – is caused by a mutation of the NF1 gene on the 17^th chromosome.  It inactivates a tumour-suppressing gene called neurofibronin.  Its most common clinical feature is multiple “café-au-lait” spots on the skin (Mark has some of these).  There are many other symptoms, as the condition affects multiple body systems, and Mark presented another one of them: a bone deformity (of his lower arm).  I am convinced that neurofibromatosis is responsible for Mark’s physical anomalies.

NF is a genetic condition – this means it can get passed on to offspring.   There is a 50% chance of this occurring.   We don’t see any signs of it in our 3 girls, but symptoms usually arise later.  While we don’t see signs of NF upward in the family tree, 50% of mutations can occur spontaneously anyway.  

My research also alarmed me of cancer: the 2% chance of a benign tumour becoming malignant grew to up to 13% if there was an underlying NF condition.  I spent a good couple of days mostly in tears.  The type of cancer this could be – a malignant peripheral nerve sheath tumour – was a serious cancer.  I won’t quote any statistics. 

Mark couldn’t remember much of what the nurses told him over the phone about the tumour MRI.  Wanting more clarity, we picked up the MRI report from the doctor.  Along with incomprehensible medical jargon (that spurred more Google searches), the last line read, “Is there a family history of neurofibromatosis?”  A confirmation that NF is likely. 

Our family doctor referred us to see a geneticist, but testing takes a lot of time, so we will likely wait at least half a year before NF is confirmed.  The girls will likely also be tested.

(You may wonder why I would go so far as to place neurofibromatosis in the heading of my blog if we don't have a diagnosis - we all know the dangers of self-diagnosis.  All I can say is that I think it's going to be part of this story.  If I'm wrong, awesome.  I would be delighted to look like a fool!)

Though we had an MRI report in hand, we had no other information.  We waited and waited.  We finally got a call from an orthopaedic surgeon in Toronto (he took the case on): Mark would have a biopsy done on July 14 to reveal the nature of the tumour. 

After the biopsy was done at the Sarcoma Center in Toronto, we still had few answers.  The first talk with a doctor wasn’t comforting: the tumour looked "mostly benign," "not obviously malignant", but we would have to wait for the pathology results to know for sure.   But other doctors were practically – no, literally - congratulating us that the tumour was almost certainly benign.

More waiting – for more than 3 weeks – since doctors deserve vacations too.  The orthopaedic surgeon personally called at 5:30 on Wednesday night (Aug.6): it was a neurosarcoma – a type of malignant peripheral nerve sheath tumour.  Mark would start radiation in about 2 weeks followed by surgery.  He assured us that 90% of patients do not have the cancer return or spread.  And while it was cancer, it was stage 1, which means that it is slow-growing and not spreading.  A good prognosis, he explained.

Now, we wait for the radiologist to call.