Cancer Success Story
Cancer Research is Making a Difference
From the time he learned to talk, my son Stephen has always said that he wants to be a truck driver when he grows up. Today at the age of 8, he still wants to be a driver, but now behind the wheel of a great big army tank instead. This is a remarkable vision for a boy who would be completely blind if he had been born a generation earlier.
Stephen’s mom, Karen, lost both her eyes, at 6 months of age to Retinoblastoma, a rare genetic disorder that causes cancerous tumours on the retina. Due to our family history it was routine to have our babies checked for the disease. Stephen’s older sisters Leah, 13, and Lauren, 11, both tested clear, so when it was Stephen’s turn to take the trip to the hospital at 2 months of age, we barely considered the possibility. We were enjoying the outing until Doctor Gallie revealed to us after the quick test that our bright, clear-eyed baby had tumours in both eyes. From that moment our lives were turned upside down.
Stephen was admitted to the hospital and began his first chemotherapy protocol the next day. The months and years that followed became a blur of fatigue mingled with periodic hope as Stephen and the good doctors fought the growing tumours with everything they had. Stephen had many complications and setbacks including two blood transfusions, and a point where he simply stopped breathing. There were months at a time when we all practically lived at the hospital.
During his four years of treatment, Stephen underwent three different chemotherapy protocols, augmented by laser surgery. While in his last round of chemo at age 4, the unthinkable happened, Stephen’s mother was diagnosed with breast cancer. Two years later she passed away on the very day that Stephen was given a clean bill of health.
As we rebuild our family from the devastation caused by cancer, we look to our fighter, Stephen, for inspiration. He is now a healthy, active, thoughtful boy who loves to read and he is particularly looking forward to the day when he earns his driver’s license.
Stephen is a living testimony to the advances in cancer treatment that have allowed him to have a sighted life. We are regular participants at the Terry Fox Run and invite everyone to join us because we know first-hand that with every dollar invested in research we move closer to the generation that will enjoy a complete cure for cancer.
And the doctor who treated him
Retinoblastoma is a rare cancer of the retina that affects infants and young children. Stephen McFadzean is a pioneer whose participation in research in the treatment of retinoblastoma has revolutionized care for other children affected by retinoblastoma worldwide. For many years surgery and radiation were the only successful treatments for retinoblastoma. Although many eyes and lives were saved by these treatments, patients were put at risk for other cancers later in life. With support from The Terry Fox Foundation, scientists at the University of Toronto opened the way for chemotherapy to be used in retinoblastoma by understanding how retinoblastoma tumor cells become resistant. Our novel strategy to get around this drug resistance has been so successful that many children now keep eyes that previously would have been lost, while avoiding the severe side effects of radiation. Because Stephen volunteered for these studies, many children around the world have benefited.
With Stephen's family, the tendency to get retinoblastoma can be inherited from the parent. At the University of Toronto, we have developed an efficient and sensitive way to predict which children in a family will be affected by retinoblastoma. When we have found the exact mistake in each family's retinoblastoma gene, a simple blood test can be performed on any relative at risk. The blood test means that most babies can avoid the previously required regular examination under anaesthetic in the first few years of life. In addition to retinoblastoma tumors, the retinoblastoma gene increases the risk for other kinds of cancer later in life, as happened to Stephen's mother.
The retinoblastoma gene turns out to be important to control the rate at which most cells multiply. Mistakes in the gene that damage its protein product specifically cause retinoblastoma and a few other types of tumors. Now our basic research studies are focused on understanding why the retina is specifically susceptible. By the time Stephen has children we hope to have the knowledge to be able to devise strategies to prevent retinoblastoma tumors forming in the first place.
My work is devoted to all aspects of retinoblastoma: diagnosis of the gene mistake, treatment of patients, and most importantly, research to improve the future outcome for retinoblastoma children. The Terry Fox Foundation has been, and continues to be, a strong supporter of this work, in partnership with the children themselves, just like our hero Stephen.
Brenda L. Gallie, MD, F.R.C.S.(C)
Director, Cancer & Blood Program, Research Institute
The Hospital for Sick Children
Professor, Departments of Molecular Medical Genetics and Ophthalmology
University of Toronto