My Faulty Gene

In 2020, I created the 501(c)(3) organization My Faulty Gene to “pay it forward” after genetic testing saved my life (my story follows below).

My Faulty Gene is a national organization that has provided education (our social media reach was over 2 million last year) and assistance (we have funded genetic counseling and genetic testing for hundreds in 40 of the 50 states) since 2020, as funds have been available. We are 100% volunteer driven.

The testing we have funded has identified nearly 200 “faulty genes” in underrepresented, uninsured and underinsured individuals with a personal and/or family history of cancers known to sometimes be hereditary (breast, ovarian, uterine, prostate, pancreatic, melanoma, colorectal, stomach, kidney, thyroid, and others). This information has been lifesaving for many!

In order to educate about the importance of genetic testing, we have created a video series of 24 short and compelling personal testimonials of individuals impacted by hereditary cancers. The Family Gene Share videos can be watched by going to: https://familygeneshare.org. (My family story can be found by selecting the BRCA1 picture, and then selecting my picture, which is labeled Kathy, Robert & Allie.)

We need help!! I have been encouraged for several years to create a Go Fund Me campaign, but never have. However, because we currently have a waiting list of patients who need our help, when the link to create a Go Fund Me campaign was reshared with me yesterday, I decided to give it a try. There are so many in need of genetic counseling and genetic testing!

Here’s my “why.”

It took 9 years after my breast cancer diagnosis in 2000 before I agreed to genetic testing. When I learned I had a BRCA1 mutation (like Angelina Jolie), I waited until my mom died of cancer 6 months later and then scheduled 10 hours of piggy-backed “risk-reducing” surgeries (double mastectomy, breast reconstruction, and total hysterectomy with bilateral salpingo-oophorectomy in one BIG surgery). During my surgery, my surgeons unexpectedly discovered I already had early ovarian cancer—often called a “silent killer” since there is no test for ovarian cancer.

Had I not had the genetic testing when I did, I would not have known I needed risk-reducing surgeries, and I would have died many years ago from ovarian cancer.

Since learning of the “faulty” gene I inherited, my family members have been able to test to learn whether they also shared the same gene mutation that put our family at increased risk of cancers. (With the BRCA1 gene mutation, we have an 87% lifetime risk of breast cancer, a 63% chance of ovarian cancer, and an increased risk of prostate and pancreatic cancers, as well as melanoma. My family has a history of ALL these cancers.) So far, 8 family members have tested positive for my BRCA1 mutation, including 2 of my 3 children. I have small grandchildren who will be able to test when they become adults and be proactive in their healthcare if they learn they also share the family’s faulty gene. Knowledge is a powerful thing!

Educating about and assisting others with access to genetic testing has become my life’s mission. Faulty BRCA genes (BRCA1 and BRCA2) are just two of the many different faulty genes testing by My Faulty Gene has identified. In the U.S. alone, 1 in 279 people are at risk of one of the Lynch Syndrome gene mutations (found in the MLH1, MSH2, MSH6, EPCAM and PMS2 genes) — and a shocking 95% are unaware they have the gene mutation and are at much higher risk of colorectal, uterine and other cancers.

If you are able to make a donation of any amount to help My Faulty Gene help others, it would be greatly appreciated! If you can’t donate but can share our fundraiser to help it reach others, please do.

Thanks! And one last question for anyone with a personal or family history of cancer. Do you have a faulty gene?