Some of you may be aware that retinoblastoma can either be genetic or an accident of nature. Following Maya’s surgery, the tumour in her eye was sent to Toronto to have genetic testing done on it in order to determine which type of retinoblastoma she had. The implications are enormous. If genetic, Ella would be likely to develop the same cancer, Maya would be at risk for developing a tumour in her other eye and both would be at risk for passing this on to their future children. Needless to say, although I didn’t mention it in detail in past notes, this was a huge burden to bear during the entire length of Maya’s ordeal.
On December 8th, we got great news from Dr. S! telling us that the results of the genetic testing were excellent: Maya did not seem to have the genetic form of retinoblastoma. However, she mentioned that there still was a 10-15% chance that these results may not be accurate but that we would be having a meeting with Genetics to explain this in more detail. We got a phone call mid-December from Genetics confirming an appointment with them January 7th. I have to be honest and say that we were somewhat dreading this appointment. We are still shaken up by the initial news we received November 10th when Maya was diagnosed. The feeling you have when you hear that your child will lose their eye and that they have cancer is a feeling one does not forget. So the prospect of going back to the hospital to have doctors explain to us that there is still a chance that these results are not 100% proof was very unsettling and remained a weight on our shoulders until Friday.
Thursday evening we ventured back into Montreal for a 9:00 appointment at Sainte-Justine the following morning. Our friends Kim and Isabelle generously put us up for the night, preparing a delicious meal for us and making sure Maya had plenty of arts and crafts materials to keep her entertained (or as Maya calls them, “Arts and craps”.) A good game of “touché” was also played by all (tag) as well as hide-and-seek. After heart-warming conversations and a relatively good nights’ sleep, it was time to head to the hospital.
As we walked through the spinning doors of the entrance, we were greeted by an unbelievable train display that was still set up from the holidays. We spent a few minutes admiring the trains and the little skiers that skied down a steep hill. Maya was especially excited to see that the trains all had the Montreal Canadiens’ symbol on them. We then headed to the Genetics department where we checked in, had Maya weighed and measured and sat in the waiting room. We were not there for more than 10 minutes when the doctor called us into his office. He was very friendly and warm and made us feel at ease immediately. He asked us questions about our health and then proceeded to draw detailed family trees for both Robbie and myself, wanting to map out the history of cancer in our families. It didn’t take long and he was happy to see that cancer in both our families is sporadic at best.
Then he explained the results of the genetic testing to us. Please keep in mind that I will explain this to the best of my ability...I am not an expert! They tested both Maya’s tumour and her blood to see where the mutation of the retinoblastoma (RB) gene had occurred. Had they found the mutation in both the tumour and her blood, it would have meant that her retinoblastoma was genetic. In Maya’s case, they found the mutation in her tumour only. They found that there was a bad copy of the RB gene where one strand of the gene had an entire section missing and the other strand was non-existent. Chances are there was only one cell that mutated causing her tumour to grow. It’s amazing to think that one little cell could have caused this huge situation.
So what are the implications? It means that they are 99.9999999% certain that her retinoblastoma was not genetic and the risk of her developing a tumour in her left eye is almost non-existent, as well as the risk of passing it on to her future children. Since there is no history of cancer in our families and they did not find anything in her blood, they are almost certain of the results. She will be monitored closely over the next several years starting at every 3 months in the beginning. As time goes by and her scans come back “clean”, the check-ups will be spaced out more. The more time that goes by without any problems, the more the doctors will be certain that it was in fact the non-genetic form. As for Ella, they are recommending that she be re-tested in about a year just to make sure although she really is not at risk for anything. They just want to err on the side of caution and have her tested up until the age Maya was when she developed her retinoblastoma.
The doctor was so kind and explained things very thoroughly for us. He even offered to meet with Maya again when she is older to explain it to her directly. He hopes that advancements in medicine will have a test once she is older that would allow her to know for sure that it is non-genetic. We will hope for that too!
We left the appointment feeling relieved and happy. It was great news and we can now move forward. We even celebrated by going to our favourite Montreal restaurant, Café Santropol. We enjoyed amazing sandwiches, hot soup and moist carrot cake for dessert. It was a nice way to balance the unpleasantness of the going to the hospital with some quality time just the three of us.
Next on our agenda is having Maya’s prosthetic eye made. We can also begin to reflect about exactly how we will give back to the hospital with a focus on retinoblastoma. We have many ideas simmering and will take the time to come up with a plan of action!
Sending you love and light,
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