The Story Behind MY FAULTY GENE

The Story Behind MY FAULTY GENE 
Kathy Baker, Founder and Executive Director

My Faulty Gene is a 501(c)(3) nonprofit organization which provides information and assistance to individuals whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation.  The personal story of how My Faulty Gene’s founder and executive director, Kathy Baker, credits genetic testing with saving her life inspires others to consider if genetic testing might be appropriate for them.

“I was just 30 when my 32-year-old sister was diagnosed with breast cancer.  At that time, I was urged to have a mammogram due to my sister’s young age at diagnosis—but I knew better.  I was not going to live in fear of cancer!  A couple of years later, when a mobile mammogram bus showed up at my law school offering free mammograms, I decided it couldn’t hurt to be screened.  When my mammogram was normal, I made plans to wait until age 50 for my next mammogram.  But at age 42, a lump in my breast was detected during an exam and my life was forever changed.  Following a lumpectomy, the diagnosis was two tumors with two different types of invasive breast cancers and metastatic involvement of my lymph nodes.  Thankfully, after many months of chemotherapy and radiation, I was declared to have “NED” (no evidence of disease).  It was at this point that my oncologist began suggesting I undergo genetic testing due to my family’s history of cancer, including a grandfather who had died of prostate cancer at age 65.

For nearly 10 years, at every checkup my oncologist would once again bring up the subject of genetic testing.  Finally, in the summer of 2009, my sister and I agreed to the testing when our mother was nearing the end of her own battle with cancer.  Since my sister was the first to be diagnosed, she was tested first and was the first to learn she was positive for a BRCA1 mutation.  Once the mutation was identified, it was easy to check me for the same mutation—which I was also found to have.

After genetic testing revealed my BRCA1 mutation, my genetic counselor advised that I had an up to 85% chance of having breast cancer again, and an up to 65% chance of having ovarian cancer.  Ovarian cancer is often called a “silent killer” since there is no definitive ovarian cancer test and there are often no symptoms presenting until the cancer is advanced and difficult to beat.

Had I not learned about MY FAULTY GENE through genetic testing and chosen preventative/risk-reducing surgeries, it is very likely that the cancer would have gone undetected until it was too late to beat.

Recognizing that I was at a high risk of developing cancer again, I knew I needed to have two preventative/risk-reducing surgeries, including a double mastectomy and a complete hysterectomy.  However, because I was self-employed at the time, I insisted that I did not have the time to take off work for two separate major surgeries.  I told my doctor that if I couldn’t have the surgeries performed at the same time, I would opt for the double mastectomy first and have the hysterectomy at some future date.  Fortunately, he found two other surgeons who agreed to work with him and they performed three “piggybacked” surgeries.  The first surgery was a double mastectomy, followed by the second surgery—breast reconstruction.  The third surgery was a full hysterectomy with bilateral salpingo-oophorectomy.  I am so very thankful that I was able to find surgeons willing to work together and that I did not put off the hysterectomy.  Because after over 10 hours of surgery, my surgeons and I were stunned to learn that I already had fallopian tube/ovarian cancer!

I truly believe that I am alive today because of genetic testing.  Had I not learned about MY FAULTY GENE through genetic testing and chosen preventative/risk-reducing surgeries, it is very likely that the cancer would have gone undetected until it was too late to beat.  However, following new rounds of aggressive chemotherapy, I was once again declared to have NED.”

Kathy has volunteered for several nonprofit cancer organizations over the past 20 years, including Say YES to HOPE and the American Cancer Society.  She has served on her local cancer board, including as board president, and was named a Hero of Hope by the American Cancer Society—which has allowed Kathy to share her story with thousands of people.  She has worked directly with hundreds of cancer patients in need of assistance in their cancer journeys.  Kathy is a graduate of the University of Richmond School of Law, and has served six years as an elected member of her local school board, including three years as board president.

While Kathy’s volunteer work previously focused primarily on cancer advocacy, in founding My Faulty Gene she recognized that genetic testing information and assistance is needed for other diseases as well.  My Faulty Gene helps individuals at risk for all types of diseases and disorders learn their testing options, and helps navigate insurance issues that might be encountered in being approved for genetic testing.  If an individual does not have health insurance and cannot afford to pay out-of-pocket for genetic counseling and genetic testing, My Faulty Gene will help find a genetic testing company that offers financial assistance for diagnostic genetic testing.  My Faulty Gene also offers financial assistance with genetic counseling and diagnostic genetic testing as funds are available.  My Faulty Gene is dedicated to helping ensure that everyone who needs genetic testing due to a suspected inherited gene mutation has access to it, because there is power in knowledge!  Do you have a faulty gene?