Five cancer diagnoses by age 31, a devastating metastatic diagnosis at age 32, and a mutated gene to blame.
This doesn’t really sound like the opening line to a Disney fairytale, now does it?
However it is the tale of my life. Hopefully it will have a happy ending.
By about the third cancer diagnosis, I began to think to myself “why does this keep happening to me?” “What is wrong with me?”
Bad habits and/or poor lifestyle choices? That wasn’t me.
Bad luck? No one could be this unlucky.
Bad genes? Now we are getting somewhere.
However, the genetic thing didn’t really dawn on me at first glance given that there was not a huge cancer presence in my family. Aside from myself, my maternal aunt passed away from breast cancer at the young age of 46. That was about it.
My paternal grandparents both reached their 90s (with my grandmother still alive today at 95) and my maternal grandparents are in their late 80s, so naturally these genes didn’t seem so bad.
After the fourth cancer diagnosis everyone seemed puzzled and speechless. At this point I desperately needed direction or answers as to what was going on inside of me.
Was I some sort of alien, or did I possess mutant DNA?
I was not an alien thankfully, although I did possess a genetic abnormality.
At age 29, I would discover the cause of my repeated bouts with cancer.
The culprit: Li–Fraumeni Syndrome.
The news would prove to be both reassuring, but also quite scary.
The rare syndrome
Essentially Li-Fraumeni Syndrome (LFS) is a rare hereditary genetic cancer disorder that greatly increases one’s risk of developing cancer in their lifetime. Generally people with LFS develop multiple cancers often during childhood or as young adults. The syndrome is caused by a mutation to a gene called the Tumour Protein 53 (TP53).
The TP53 gene is referred to as the “guardian” or “tumour suppressor gene.” The mutation takes away the gene’s ability to function properly. Therefore, the mutation is responsible for the inability of this gene to control cell division and prevent tumour formation.
Usually the mutation is inherited (passed on from a parent to their offspring), or in some instances (as is the case for me) it is a result of a chance rewriting of that segment of the DNA at conception. This is considered a de novo (new) mutation in the TP53 gene. So I guess I was unlucky afterall.
The cancers typically associated with LFS are:
soft tissue sarcomas,
brain cancer (mainly glioblastomas),
acute leukemia, and
Other cancers have also been reported in patients with LFS.
The lifetime risks for developing cancer in individuals with LFS are astronomical. For males, it is about 75% roughly, while for females it is virtually 100%. So females with LFS are inevitably going to be struck with the Big C. Here goes that bad luck again.
I was never going to be “free”
Learning I had LFS was twofold.
On the one hand, it provided answers as to why this was happening to me. It gave me the closure and reassurance that I was desperately seeking. This was completely out of my control and it had nothing to do with anything I was or was not doing. Phew, I needed a good reason not to feel bad about my lack of exercise. Unless you count shopping as a sport, that is.
On the other hand, learning I had LFS was quite scary and depressing in the beginning. You see, despite how frustrated I was with the multiple cancer diagnoses over the years, I was still able to hold onto the idea that this was going to be my last bout with cancer. This was it. However, having LFS meant that cancer was going to be in my life forever. This was not it.
I was never going to be free.
I felt I had to live in the constant fear of a new cancer popping up for the rest of my life. This merciless disease now had a hold on me that was stronger than ever.
Not to mention how rare this genetic condition is, affecting roughly 500 known families worldwide. So technically I was “abnormal.” Perhaps I did have alien DNA afterall. This felt isolating. I wasn’t quite sure how to deal with this newfound information.
The silver lining
Like the saying goes, ‘every cloud has a silver lining.’ And in this case, the proverbial silver lining was the screening and surveillance associated with a LFS diagnosis.
Individuals with LFS require intense screening in the hopes of finding tumours or cancers at their earliest stage; therefore minimizing the risks to the patients as well as improving overall survival rates.
One of my absolute favourite doctors and most trusted medical advisors, Dr. David Malkin at The Hospital for Sick Children, paved the way for screening for LFS patients.
Dr. Malkin created a cancer surveillance program that has been helping children with LFS. It calls for the genetic testing of children whose families have abnormally high rates of cancer, as well as rigorous screening for those who test positive for LFS. This surveillance program, known as “the Toronto Protocol” has resulted in early detection and surgical removal of cancers, therefore in many cases eliminating the need for toxic treatments such as chemotherapy and radiation.
The man is literally a superstar. A brilliant scientist and oncologist, as well as one of the most compassionate and approachable doctors in the history of doctors. And he always wears the best socks! I think I might be a Dr. Malkin stalker.
Unfortunately, in the adult LFS world things were not moving in the same direction at the time. The “Toronto Protocol” was not being employed for adult LFS patients, which of course really sucked for me. Although Dr. Malkin (and I) persistently tried to have the same screening protocol in place for adults, our pleas went unanswered. Some tests were performed, but not everything.
Yes, there is finally going to be screening in place for adults with LFS at the Princess Margaret Cancer Centre under the direction of the also highly qualified and awesome Dr. Raymond Kim. After much anticipation, I will soon be getting a full body MRI, along with a number of other tests and screening.
Better late than never, right?
Although various annual MRIs (breast, brain, full body), quarterly blood tests, ultrasounds, and colonoscopies are not things to get excited about, they do provide an element of preventative medicine as well as comfort in knowing that cancers will be caught very early. This will decrease the chances of someone with LFS ever developing a metastatic cancer. And this is definitely something to get excited about. The logic is that with proper screening and surveillance in place, tumours will always be caught in their earliest stages.
Additionally, the work that is being done at Sick Kids and Princess Margaret Cancer Centre will raise much needed awareness with respect to rare hereditary genetic cancer syndromes such as LFS. Ideally, the aim is not only early detection, but also developing medicines that can restore the protective function of the TP53 gene that is lost when the gene is mutated, as well as predicting where in the body and when individuals will develop cancer so that the tumours can be stopped from growing or better yet, prevented altogether.
I will be working alongside Dr. Malkin and Dr. Kim to do everything in my power to advocate and raise awareness for rare genetic cancer syndromes such as LFS. As such, I will keep all of you updated on any advancements and updates as we go along.
For now, I can tell you that the Terry Fox Research Institute has given a grant of $2.2 million to Dr. Malkin and his team at Sick Kids Hospital over the next three years to continue their research on LFS. The ultimate goal is to develop a blood test that detects cancer earlier and to identify treatments that will prevent cancer from developing in the first place in patients who are at risk.
Global Television’s Susan Hay (who is absolutely lovely) interviewed Dr. Malkin and myself as part of the “Making a Difference” news segment. I will keep you updated on when this will air.
In the meantime, I will continue my advocacy.
In the end, I realized that having LFS meant that I had bad genes and bad luck.
But for all of those out there with mutant genes, consider yourself a superhero. Your superpower: kicking cancer’s a@s!
If I can do it five times (hopefully six), so can you!
Love, health, and genetics!