Monday, August 15, 2016

Being Careful What You Wish For

As my short bio at the end of this post says, I am a cancer mom, in fact, I am a two-time cancer mom which is quite rare in the world of rare things (pediatric cancers are classes as rare diseases, in case you didn’t know). Despite being told, perhaps as far as even assured, in 2006 that the cancer diagnosis of our first born son at only five-months of age, which claimed his life two months later, was random or ‘bad luck,’ it turned to not be the case. In 2014, our then seven-year old son was diagnosed with the same cancer.

Gene mutation

While the focus immediately following our son’s diagnosis was 100% on getting him treatment at the best hospital possible for his diagnosis (neuroblastoma), there of course was the lingering sick-feeling that we were not fouled by bad luck, but rather, bad genes. And so started a nearly 18-month long odyssey to solve our medical mystery.

Despite there being no shortage of genetic specialists and even relatively new genetic markers and blood tests, getting true attention onto this issue from our care team(s) took a lot of effort on our end. We were twice cautioned that sequencing his tumor would be costly and likely not yield any helpful or actionable information. We did not care. And ultimately this test did provide the clue that ultimately unlocked the mystery: a p53 mutation.
Being a cancer mom in a tight-knit community, I have become close with other cancer moms. Over dinner one night, while sharing our questions and fears around if other siblings may be affected by cancer, I learned something almost disturbing: that three out of five other moms who sought tumor sequencing were cautioned in the same manner as I was. Were we told not to waste our money? Not in so many words, but none of us found encouragement to move forward with the testing. But guess what? All three samples returned interesting and meaningful tumor mutations.

Every day I see at least two articles around personalized medicine and genetic research, and that’s without even looking. If data is the key to understanding how cancer forms and thus can be prevented prior to formation, why isn’t ‘the industry’ being a little more proactive in reaching out to families affected by rare diseases who truly want to know more and also contribute to the field of research whenever possible?

I contrast this all to the reality that many clinical trials face with struggles around recruitment and enrollment. On one hand, trials can’t locate the needed patients on the stated timeline, yet there are families like me on the other hand.

Our bodies, stories and DNA have stories to tell and we find that we have trouble getting an audience to listen. And as any cancer parent will tell you, the cost of $5000 for sequencing is not a deterrent. Any of us would go door-to-door and sell cookies or vacuum cleaners if we had to in order to understand even one iota of ‘why’ our amazing and irreplaceable child, one of our greatest loves and accomplishments in life, has to face down cancer and give up a lot of youthful normalcy for months of chemo, weight loss, tutors, pain, surgeries and so forth.

I knew that asking a hard question might get me an answer which I wouldn’t want to hear (it did, if you know anything about p53), but in this day and age, patients and families who can teach the industry about disease formation, risk, treatment and so forth, should find opening arms from the parties who are best suited to help find the proverbial needle.

About the author: Jennifer Crowley is a contributing writer for the Partnerships in Clinical Trials US conference. When she is not working as a healthcare marketing and PR professional, Jennifer Crowley is mom to an eight year old son with cancer. His illness has largely driven her interests in patient advocacy, pediatric cancer research and personalized medicine. It's great to learn because knowledge is power!

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