Diagnosis and Initial Treatment

Colin was a vivacious, charismatic boy who was both loving and well-loved. Leading up to his second birthday in June of 2009, he became more clumsy, tripping when he shouldn’t have been, and complaining frequently of headaches (by pointing at his head). His head also seemed to tilt to one side and, in retrospect, began eating with his left hand and generally favoring that side.

With the sneaking suspicion that something was wrong, we planned on bringing the issue up with his pediatrician at his upcoming well visit. However, we ended up at the doctor’s office on his second birthday, finding out that he had a double ear infection. This could explain the loss of balance at the time but left us still wondering about his behavior over time.

The following day, we returned to the office with a trivial complaint (a bug bite, it turns out, rather than the feared contusion!) because of the neurological concerns. The pediatrician, Dr. Golenbock, heard our concerns and sensed the parental intuition that kept sending us back to the doctor’s office and ordered a non-priority CT scan. His line of questioning helped us understand what sorts of symptoms represented a problem.

On Sunday morning, June 14, 2009, the day we planned to celebrate his birthday with his cousins, Colin couldn’t support his body with his legs and started arching his back, throwing his head back.

Alarmed, we headed straight to the emergency room in Danbury, CT, where the ER doctor, Dr. Michelin, ordered a CT scan. She assured us that we would get an answer that day and suggested that we transfer to the children’s hospital in Westchester for a full neurological workup.

Unfortunately, the CT scan showed a mass in the posterior fossa region of the brain. Growing out of the fourth ventricle, wrapping around the cerebellum and much of the brain stem up to the pons and extending down the top of the spinal cord, it had backed up a large amount of fluid in his brain. The cerebellum controls balance and motor control, explaining much of Colin’s symptoms. Often, the symptoms in these cases are sporadic and appear to improve throughout the course of the day, as we had seen with Colin.

Colin was admitted into the Pediatric ICU (PICU) on Sunday and immediately saw one of the neurosurgeons who treated him there. The MRI the following day made clear the extent of the tumor, which was not fully evident in the CT scan.

The immediate concern was the pressure that caused Colin’s neurological symptoms, and it was also important to diagnose the type and nature of the tumor. Both were impossible to ascertain/confirm without biopsies. The surgeons were reluctant to speculate, as Colin’s case did not fit a common pattern familiar to the team in Westchester. The biopsy and subsequent pathology studies revealed that the tumor was a grade III anaplastic ependymoma, a cancer that is often restricted to the posterior fossa region (essentially, in the lower back of the head) but in his case migrated much further.

There is some suggestion that the tumor is congenital and it may have become more aggressive only recently. However, this is still not clear. These sorts of tumors typically originate from cancerous stem cells, so it only takes a single errant cell after treatment to serve as the seed for new lesions.

First Neurosurgery

Colin’s first surgery removed the section of tumor on the back side of the cerebellum, freeing up room for the fluid to flow and presumably relieving pressure. Another component of surgery was the installation of a drain that provided an external valve to alleviate pressure. Colin’s body adjusted to the pressure well and the surgeons removed the drain.

Unfortunately, due to the sensitivity of the cranial nerve that is responsible for hearing, Colin permanently lost all hearing in his right ear. We knew that he would need more surgery but went home for a needed break from the hospital.

Second Neurosurgery

Colin’s second surgery was performed by Dr. Jeffrey Wisoff at NYU Medical Center, successfully removing 95 – 98% of the tumor. He reported the tumor remnant as a piece 5 mm x 5 mm x 2 mm. Although the immediately pre-op MRI showed evidence of metastasis in two places in the spine, a later post-op scan found the spine clear of disseminated disease. We assume that the phantom tumors were motion artifact, which is a finding on the scan that comes from the patient’s movement during the procedure.

The hydrocephalus proved too much for Colin’s system to manage, so Dr. Wisoff also installed a ventriculoperitoneal shunt (VP shunt) that had a valve behind his left ear and wends through his body, letting out into his stomach. The shunt has done it job well (and without complications!), greatly reducing the degree of hydrocephalus over time.

Colin suffered nerve damage as the result of the second surgery, leaving him unable to swallow, with facial paralysis, impairments to the right eye, and deafness in one ear. He also had “posterior fossa syndrome,” which is a temporary condition that causes physical and emotional side effects. In New York, Colin got a gastrostomy tube so we could feed him.

In the midst of these issues, Colin ended up back in the PICU with a fungal blood infection. Though we treated this appropriately at the time, it later came back to haunt us months later.

A Move to Memphis and Chemotherapy

After seeking out second opinions, we decided to travel to Memphis to pursue a research trial for children under three with certain brain tumors (SJYC07) at St. Jude Children’s Research Hospital in Memphis, TN.

Excerpt from October 3, 2009: Beginning, Middle, End

[The 18-year-old’s dad] shook his head in weary capitulation. “Oh, he’s determined all right.”

Yet, in the moment that followed, an unspoken thought hung in the air and swirled away in the breeze: “But determination is not enough.”

This is a sobering thought for those of us in the middle. Colin’s determination is a strength, but it may not be his salvation. Fortunately, we don’t have to worry about this for the moment.

At St. Jude, Dr. Gajjar, the head of neurooncology and Colin’s treatment team, recommended that a tracheostomy would keep his lungs safe, given the paralysis of one vocal cord and other deficits that left him unable to swallow properly or protect his airway. The tracheostomy was critical for him to safely proceed with the trial, which involved high-dose chemotherapy that would weaken Colin and make him even more vulnerable to pneumonia.

Excerpt from November 4, 2009:Pushing Through

Thoughts on the terrible prognosis of the fungal heart infection: Knowledge, after all, is always limited and usually flawed. Early on, we intuited (and later saw proof) that a prognosis is not useful because, among other things, it does not reflect the specifics of a case. Statistics are a dangerous toy that often do more harm than good.

Third Neurosurgery

Chemo was not easy on Colin but it helped make the residual tumor easier to remove. He had his third major neurosurgery in January 2010, with Dr. Frederick Boop at LeBonheur Children’s Hospital, also in Memphis.

Dr. Boop removed all visible traces of the tumor but, due to the sensitivity of the area, was not able to search around to double-check. There remained areas that enhanced on scans, and it is unclear whether it was scar tissue or residual tumor. Either way, Colin was able to move on to radiation, which would hopefully kill any remaining tumor cells and keep the cancer from returning.

One hitch along the way was the discover of a large and dangerous blood clot. We later discovered that Colin had a common clotting disorder (Factor V Leiden) and much later found a second clotting disorder (Protein S deficiency from an uncommon genetic mutation) that predisposed him to clots and complicated all of the surgeries that followed.

Excerpt from February 6, 2010: Sword of Damocles

On the lurking blood clot:

Worrying, it turns out, has no therapeutic value.

Radiation

Although other children on the protocol are currently getting proton therapy in Jacksonville, FL, Colin did not travel there due to his matrix of medical complications, including a fungal heart infection we discovered during chemo and a six-centimeter blood clot that developed in his brain after his last tumor resection. Instead, we stayed in Memphis for intensity modulated radiation therapy (IMRT), or standard photon therapy, and were very glad for it.

The last phase of treatment was a six-month course of oral chemotherapy that began in Memphis and that we finished at home in Danbury, CT. Still unable to walk or eat, Colin returned home in June, 2010, and finished treatment at the beginning of October. He continued to return to St. Jude for regular check-ups to assess the status of his cancer and various side-effects.

Continue to:

Remission and Recovery

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