October 19, 2018

A Call to Courage – Experts by Experience

By laurakieger

“Now is not the time to get scared.” Those are the words of Dr. Howard Kaufman, one of the scientists who approved a gene-editing human study conducted in California in late 2017. The patient, a man named Brian Madeux, suffers from a rare inherited metabolic disease, and this clinical study is the first attempt by U.S. scientists to edit genes inside the body of a living human. Their tool? A gene-editing technique much like CRISPR/Cas9 technology that is revolutionizing biomedical research at a feverish pace.

I was eleven when my grandmother first told me she thought there might be something wrong with my mother’s family. Two years later, in 1972, that “something” was given a name–Familial Adenomatous Polyposis or FAP–a rare autosomal dominant genetic condition caused by germline mutations in the adenomatous polyposis coli (APC) gene. We became a family that carried more than a genetic mutation; we were now a “cancer family.”

It wasn’t until 1979 that I sat down with pencil and paper and drew the circles, squares, and lines connecting loved ones with myriad cancer diagnoses. It was my first crude attempt at a medical family tree or “pedigree chart.” I carried that piece of paper with me to doctors’ appointments for the next twenty years.

For all the advances in health care, genetics, and personalized medicine, the family health history may still be the most important piece of the puzzle in aiding health care practitioners to determine one’s lifetime risk of developing cancer.

To help focus attention on the importance of family health history, the U.S. Surgeon General, in cooperation with the Department of Health and Human Services and other agencies, has launched a national public health campaign called the Surgeon General’s Family Health History Initiative to encourage all American families to learn more about their family’s medical history. The Surgeon General’s “My Family Health Portrait” is an internet-based tool that makes it easy to record your family health history.

Of course, in order to effectively utilize these valuable tools, one must collect and organize their family’s health information—which includes talking with family members. Family gatherings are a great time to broach the subject. Some may be reluctant to discuss medical issues, so it’s important to be sensitive to potentially painful memories or perhaps denial that the disease may “run in the family.”

Once you’ve gathered your family’s health history, and it suggests that you might have inherited a risk of cancer or other diseases, you should first consult with your health care practitioner. For people at risk of developing cancer, this knowledge, coupled with genetic testing, can be lifesaving.

Going back to Dr. Kaufman’s work, it’s worth mentioning that gray areas exist when contemplating cutting-edge technology to “fix” a bad gene or “repair” a genetic mutation. But for families at risk for inherited cancer conditions like FAP, Lynch Syndrome, and BRCA 1 & 2 genetic mutations, answers have been decades in the making. For us, gene-editing technology that targets human DNA and acts like molecular scissors to cut and replace disease-causing genes with healthy ones is, well, unbelievable.

James D. Watson, the American co-discoverer of DNA structure said it best in a 1999 Time Magazine article– “Moving forward will not be for the faint of heart. But if the next century witnesses failure, let it be because our science is not yet up for the job, not because we don’t have the courage to make less random the sometimes most unfair courses of human evolution.”

Creating, updating, and sharing your family’s health history will remain a reliable and valuable tool for generations to come–acting upon it is even more critical. Now that new technologies are here, we must be brave and determined; now is not the time to get scared.

Experts by Experience is a collaboration between Inspire and Mayo Clinic Connect, online support communities for patients and caregivers. By sharing their stories, patients and caregivers awaken, inform, and strengthen the capacity to partner in their care. The stories also help clinicians and non-medical professionals in health care implement patient-informed practices in their interactions and communications, by uncovering opportunities for quality improvement. The series showcases the value of shared experiences and features contributors from around the globe.

About the author: Laura Kieger is the author of Summer’s Complaint: My family’s courageous, century-long struggle with a rare genetic cancer syndrome, a story rich in love, courage, resilience, and hope.

Laura and her husband Bill raised their three kids, Alexander, Kelsey, and Adele in the beautiful state of Minnesota. Visit her website at You can also find Laura on Twitter at @lkiegerauthor.

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Have a family history of cancer? Here's what you should do about it. #Gene
Via @MayoClinic: Have a family history of #cancer? Here's what you should do about it. #Healthcare #DNA
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Tags: Experts by Experience, Patient Involvement

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