The Medical Brain Trust and Germline Mutations

 

Unfortunately, genomic science is far ahead of the maturity it takes to use its life-saving capabilities effectively. Every gene sequencing report with a pathogenic variant identified that I have seen clearly states in one way or another that other family members may be at risk. Yet, it’s still considered an individual issue, where the sharing of very complex information with other family members is left to the patient, regardless of their ability to do so. Tell me, how does that make sense? How is that ethical?

Nobody should die of a preventable cancer. Nobody!

The cartoon can also be viewed in a larger format at https://markix.net/brain/

Celebrating Previvorship on Father's Day

 
 

I celebrate Previvor Day every day, but more so on Father’s Day.

For those unfamiliar with the term, a previvor is someone who has not been diagnosed with cancer but is at a higher risk for cancer due to certain inherited genetic mutations (BRCA1, BRCA2, CHEK2, ATM, PALB2, TP53, MLH1, MSH2, MSH6, etc., etc.). Being a previvor does not mean you will get hereditary cancer; there are ways to reduce the risk. But those choices can be life-altering.

My daughter is a previvor.

Imagine being in your 20s and watching your mother die a horrific death caused by a pathogenic genetic mutation that you had just recently learned that you also carry. Then having to face all the life-changing medical decisions and procedures to reduce your cancer risk without your beloved mother by your side. That takes exceptional courage.

Genomic science has given my child, who has grown into a kind, creative, and confident scientist, a chance to live a full life cancer-free, something her mother did not get. Because of laws and attitudes still stuck in the last century, information that would have saved her mother’s life did not get shared.

Father’s Day gives me another opportunity to advocate for hereditary cancer awareness and prevention. And prevention starts with knowing and sharing family health/cancer history — both maternal AND paternal.

Everyone has tumor suppressor genes like BRCA (BReast CAncer) 1 and 2. Mutations in those and other genes can cause many different cancers. And knowing that genetic mutations can be passed down for generations from fathers as well as mothers can be life-saving.  

Happy Father’s Day to all the fathers of previvors.

Life is fragile. Knowledge is power.

A Website About Genes, Genetic Mutations, and Hereditary Cancer

When I was my late wife's cancer caregiver, I often found myself trying to explain to others about her diagnosis, how her cancer could have been prevented, and how our adult child ended up with the exact same BRCA2 mutation as her mother. But I quickly realized that many people lack a basic understanding of genetics, genetic inheritance, and cancer. So, being an illustrator with decades of experience creating educational materials, I started drawing pictures to help explain it.  

I felt what I had illustrated needed to be shared, so I created Genetionary.org, an ad-free site with a simple genetic mutation glossary, my infographics, and materials for sharing family health history. It’s just a simple site with a simple focus: to help raise awareness about hereditary cancer and how it can be prevented. 

My soul mate of 40 years died horribly and needlessly because information wasn’t shared. Nobody should die of a preventable cancer. Nobody!

Please share.

A Little Art on World Turtle Day

I had a successful career in the arts long before a pathogenic germline mutation changed everything. So, for a little break from my hereditary cancer advocacy infographics that I've been posting here for the past few years, here’s a look at some of my Testudines illustrations for today.

The top left image was my first children's magazine cover, done as a 20-something just beginning my freelance illustration career. (Back in the days when getting a gig from an editor or art director a couple thousand miles away involved either a long-distance phone call or a snail mail letter. And when someone liked your work, you got fan mail!)

If you want to color a picture today, you can go here to download the Sulcata Tortoise coloring page.

Or here to download the Desert Tortoise coloring page.

The How to Draw a Turtle page is here.

The sleeping tortoises are from the children’s book, Coyote Claus: A Southwest Desert Tale, published by Sunbelt Publications. (BTW, I donate ALL royalties from the sales of the Coyote Claus book to help the hereditary cancer community fight cancer.)

You can learn more about World Turtle Day here.

Bringing Families Together to Prevent Hereditary Disease

Knowing and sharing family health history can be life-saving. The same genetic variant that may increase the risk of cancer or heart disease can be shared with grandparents, parents, brothers, sisters, aunts, uncles, and cousins — even cousins several times removed.

Art created by me as a volunteer advocate for the ConnectMyVariant May newsletter.

The Importance of Telling Your Cancer Story Honestly

“Incidence is increasing for many common cancers, including 6 of the top 10,” according to the American Cancer Society. But there has not been a lack of cancer conferences, walks, runs, and galas over the past couple decades. Something isn’t working. 

Maybe we need to look at preventing and curing cancer differently. Let’s start by being honest about cancer.

Read the entire CURE story here.

Share Your Hereditary Cancer Story Today

On June 26, 2021, my soul mate of 40 years died of hereditary cancer as I embraced her. Her nearly four-year struggle against metastatic triple-negative breast cancer caused by a BRCA2 mutation was an hellish nightmare. The cancer had spread to her spine, then to her brain.

Her cancer could have been prevented.

Doctors never took note of the history of different and deadly cancers in my late wife’s family during her regular checkups and mammograms. And relatives who were acutely aware of the mutation and the risk to other family members did not speak up and share what would have been life-saving information.

Current HIPAA privacy laws prevent doctors from sharing information about a patient’s positive germline mutation result with other family members without express consent. The duty to warn is instead left to individuals who are often incapable of sharing information about a complex medical subject with other family members. Individuals who either don’t understand genetics and the risk to others or are simply overwhelmed with being diagnosed with a pathogenic variant and the choices that they face. Putting individuals who are not medical or science professionals in the position of explaining germline mutations and the cancer risk to their genetic relatives is not wise, fair, or ethical.

1 in 279 individuals have a genetic mutation that puts them at risk of hereditary cancer. Yet, even with all the hype and bluster about preventing cancer, there is no medical requirement for gathering family cancer history and cascade genetic testing. Two things that are proven to help prevent cancer.

Through genetic testing, my daughter learned she inherited the germline BRCA2 mutation from her mother. A mutation that we now know goes back for many generations. Armed with this knowledge, my daughter has been able to take preventative steps to give her a good chance at a full life cancer-free.

Because I lost my beloved wife to cancer and our child inherited the mutation, I have become a hereditary cancer awareness and prevention advocate. Heartbreakingly, I continue to hear stories of hereditary cancers that could have been prevented but were not. Things need to change. HIPAA laws need to evolve as genomic science advances. And genetic testing should become a standard of care. Especially when there is any family history of cancer.

Nobody should die of a preventable cancer. Nobody!