WHEN STEPHANIE HERMSEN was nine months old in 1976, her mother noticed a white spot in one of her eyes. Two days later, Stephanie was diagnosed with retinoblastoma, a rare form of eye cancer. Stephanie underwent nine months of radiation, chemotherapy and cryotherapy. Although treatment was successful in her left eye, unfortunately her right eye could not be saved.
Since then, work by Canadian Cancer Society-funded researchers Dr. Brenda Gallie and Dr. Helen Chan led to a test that indicates the presence of the retinoblastoma-causing gene.
Stephanie, who lives in Windsor, was told she carried the hereditary genetic mutation, with a 50/50 chance of passing the gene on to her children. When Stephanie and her husband, John, decided to have a child, an amniocentesis confirmed that her growing baby carried the same mutation.
Baby Liam was delivered a month early to test for retinoblastoma. At four months, his first tumour was eliminated with laser surgery, a far cry from the lengthy treatment Stephanie had endured. A second tumour in the other eye was alsoeradicated. Liam now has 20/20 vision.
"With genetic testing, doctors can identify which kids are at risk and monitor their eyes to see if the disease strikes," Stephanie says. "Thanks to the incredible progress in retinoblastoma research made possible by Society funding, Liam won't have to go through what I did."