Pediatric cancer, LFS style

September is pediatric cancer awareness month, something that we have quite a bit of experience with, thanks to LFS.

With many inherited cancer predisposition syndromes, like BRCA, there is an ethical debate about testing children, who are unlikely to develop cancer until later in life. With Li-Fraumeni Syndrome (LFS), half of all cancers occur in childhood, so there is a real benefit to testing and screening minors. While the emotional burden is heavy, screening can save a child's life.  The Ramers have personal experience with this, having discovered four of the six cancers in my children, not due to concerning symptoms, but because we were armed with the knowledge found in genetic testing.  We were looking for cancer, before it found and overwhelmed us.

Through routine screening, physicians discovered two brain tumors, metastatic melanoma and acute myeloid leukemia in my children over the past five years, prior to any symptoms developing.  Early detection offered the advantage of less complicated brain surgeries for Lauren.  Consequently, my daughter's cancer diagnosis has not slowed her down. Lauren is an honor student in high school, in the marching band and she is currently running cross country.  I am so grateful for these blessings.

My son Brent has had a tougher run with his three cancers.  He has endured well over 30 surgeries, months and months spent in hospital, chemo, radiation, bone marrow transplant, immunotherapy, and epigenetic therapy. He has worked incredibly hard with his doctors, finally achieving a well deserved remission. I am proud to say that he is applying for National Honor Society and has returned to school for the first time in a year and a half. However, had either the melanoma or the AML progressed further, prior to his diagnosis, he might not have had the same treatment options.

Today, we are so grateful and yes, even hopeful.

• The Toronto Protocol, the guide that helped our doctors find these cancer early, was published just months before our diagnosis.  It has made a difference in outcome for us, and it showed up just in time. 
• We are incredibly fortunate in our team at Rainbow Babies and Children's Hospital. I could never properly express how we have been touched by people there who care for our family, and in a way have become part of our family.  I am so grateful that they are willing to think outside of the box.
• We recognize the diligent effort of cancer researchers worldwide who doggedly work to make this condition even more manageable. All advances in oncology benefit the LFS community because we are at higher risk for all forms of cancer.
• I am encouraged by the recommendations of the Cancer Moonshot Blue Ribbon panel which were revealed today.  Among other things, they urge that the research on the drivers of pediatric cancer be intensified and provide strong support for immunotherapy research, which is not DNA toxic. Brent got his latest cancer, a therapy induced AML, from the DNA-toxic chemotherapy he received to treat osteosarcoma. I stewed (kind of bitterly) in that fact for quite some time. We can do better, and will.

This brings hope that our future will be brighter than some very dark days that we have experienced. Lauren and Brent have had cancer simultaneously, on two different occasions. In 2011, Lauren had a brain tumor as Brent battled osteosarcoma.  Again in 2015, Lauren headed back to neurosurgery while Brent did chemotherapy for leukemia, preparing for bone marrow transplant with his brother Alex as his donor. Twice within a month, the Ramers had two rooms on the pediatric oncology floor, which sounds completely ridiculous.

This is pediatric cancer LFS style in its current state.  But I know that working together, it will get better. I am really looking forward to helping with that work.

It is a great time to be a mutant (if you have to be a mutant)

I was driving Brent in to the hospital on Thursday afternoon.  It was the last day of school before Spring Break and Brent was going to get his drain out, which was most welcomed.  After telling me all about his day, Brent asked about mine.


"What did you do today, mom?"


Well, among other things, I had watched a webinar about metastatic melanoma.  There is a researcher out of MSKCC that has grabbed my attention in the round about way that my life works.  When a webinar featuring Dr. Jedd Wolchok was posted on my news feed, I registered.


I suspect that stay-at-home moms were not the target audience, given how science-y it all was, but I found this thing to be absolutely riveting. There are promising things in immunotherapy, specifically with regard to melanoma, but these ideas can be applied to other forms of cancer as well.  I am very encouraged.


In sharing some of the things that I learned with Brent, I spoke to him about how much has changed, even since I first learned about Li-Fraumeni Syndrome, just ten years ago when Lauren was diagnosed with adrenal cancer.


Ten years ago, they were just starting to test families who they suspected had Li-Fraumeni, for a p53 mutation, in order to identify which family members were effected.  Prior to that, parents could only wonder and worry that they had passed this cancer predisposition to their children.  I would still be worrying about Alex and Olivia, had the genetic testing not proven them to be genetically sound at P53.  They have the same cancer defense as everyone else.  This scientific advancement has directly benefitted our family, eliminating half of our worry.


But even five years ago, if you did the testing, there was nothing to be done with the information for people with a positive result for the mutation.  Brent was diagnosed with osteosarcoma in the fall of 2011, right after the Toronto screening protocol was picked up.  By using this screening guide, we began the proactive hunt for cancer, finding Lauren's brain tumor early, before it caused her bigger problems.


This same protocol picked up Brent's current cancer, melanoma, long before we would have suspected that he had a problem.  While I am not happy about the fact that we are on our fourth pediatric cancer, or the fact that Brent has a year long treatment, I must to concede that the screening protocol is in fact working.  We are picking these cancers up in the earlier and more treatable stages.


I shared with Brent about a study that they are doing at the National Institute of Health, which is trying to determine if using an existing drug, used off label, will help prevent cancers from developing in the first place.  I am going to meet with the researcher next week to talk about this.


The research keeps moving.  At first they simply identified families with likely genetic predisposition.  Then they identified the gene that was mutated in all affected family members.  They are now trying to get ahead of the cancer, by screening for it.  The current research seeks to prevent cancer from happening to begin with.


Brent asked if this progression was like the diseases that were deadly 80 years ago, but we have vaccinations for now. If you were to get diphtheria back then, you might die.  But now, people do not get often get diphtheria, because of vaccines.  And if you do get it, it is much more treatable with antibiotics.  I am hopeful about this notion, and hopeful that we are on the very edge of similar advances in cancer.


I told Brent that when he was first diagnosed with osteosarcoma, I was overwhelmed and afraid.


"I was afraid too, mom."  This is the first time he has said such a thing to me. "But it is a great time to be a mutant... if you have to be a mutant."


I like his optimism, especially at times when mine falters.  We move forward...always forward.