To introduce myself, I am a former retinoblastoma (RB) patient and RB survivor. I was diagnosed in the early 1980s and treated at SickKids; my left eye was enucleated and I received chemotherapy and radiation over the course of about a year. Living in Ontario, I returned to the eye clinic and the oncology clinic at SickKids each year until I turned 18. Gradually over those years, thanks to the attentive care I received, the impact of the initial diagnosis and treatment faded. And over the next 15 years I did not often think about RB, save for a background level of vigilance with respect to my health: awareness of the possibility of secondary tumors, and potential for slow manifestation of side effects of my childhood surgery, radiation, and chemo.
Just over a year ago, that vigilance led me to follow up on what I thought may be a sports injury but turned out to be a secondary tumor. I was then treated for a soft tissue sarcoma that I learned to be one of the more common types of secondary tumor to develop in those with an RB mutation. I now found myself facing a cancer diagnosis as an adult, devoting a great deal of thought to making significant health care decisions for the first time.
It has been a happy coincidence to learn of the Canadian Retinoblastoma Research Advisory Board (CRRAB) and the study on setting RB research priorities led by Dr. Dimaras and her team. My recent diagnosis and treatment experience have led me to think about RB from a new perspective and, ultimately, to articulate what I consider to be RB research priorities.
The first issue that came up for me was a feeling of being among the fewest of the few. Struck twice by lightning, or doubly star-crossed, depending on how you look at it! RB is a relatively rare tumor, and the sarcoma that surfaced in my 30s is a subtype of another relatively rare tumor. For understandable reasons, much of the data on treating my secondary tumor comes from patients with the most common subtype. But what I began to appreciate is that just because something works for the majority of cases, doesn’t mean that it will work for all cases.
For this reason, I feel it should be a priority to track patients like myself, RB survivors, through adolescence and adulthood to gain more data on the types of tumors that can appear in those carrying an RB gene mutation. While not all RB survivors will develop secondary tumors, the only way to begin to piece together how one cancer predisposition links to another is to collect more data. With relatively few of us out there in the world, the more patients that participate in these types of studies the better. This type of research would also provide insight on causes of the relatively rare secondary tumors, and inform best treatment options for childhood cancer survivors.
A second question I had after diagnosis was whether I could share my tumor samples or other data about my pathology and treatment with a centralized data bank, so that cancer biologists could access the samples along with others from RB patients. I now know that a first step toward this goal is to join the Canadian Retinoblastoma Research Registry. Yet, I expect that determining how to best identify potentially useful samples, how to coordinate the preparation and transport of the tissue to a central sample bank, and how to organize access and distribution of the samples, could all be fruitful areas to explore.
I have no doubt that as I continue to move through my cycles of follow-up, I will have new unanswered questions. I’m really thrilled to participate in this research priority setting study for this reason, but also to hear the perspective of other RB patients and their families. I predict an offshoot of the efforts of the CRRAB, Dr. Dimaras, and her research group will be a stronger RB community, which I look forward to being a part of. If you are reading this and considering whether or how you could contribute, I urge you to join the Canadian Retinoblastoma Research Registry, participate in the Priority Setting Study and reach out to the RB Canada Research group via this site and join us!