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 mammography 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.  In addition to my sister’s breast cancer, my maternal grandfather had died of prostate cancer at age 65, and his mother had died of pancreatic cancer.

For nine years, at every checkup my oncologist would once again bring up the subject of genetic testing.  My response was always the same:  ‘I will think about it.’  But I didn’t.  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.  We both tested positive for a BRCA1 mutation.

After genetic testing revealed my BRCA1 mutation, my genetic counselor advised that I had an up to 87% chance of having breast cancer again, and an up to 63% 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 risk-reducing surgeries, it is very likely that the cancer would have gone undetected until it was too late to beat.

Recognizing I was at a high risk of developing cancer again, I knew I needed to have two risk-reducing surgeries, including a double mastectomy and a complete hysterectomy.  However, because I was self-employed, I insisted 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.  After all, the risk for breast cancer was much higher than the risk for ovarian cancer!  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 surgeons were found that were willing to work together and that I did not put off the hysterectomy and oophorectomies–because after over 10 hours of surgery, I was stunned to learn the surgeon had unexpectedly discovered I already had early ovarian cancer!

I firmly believe that I am alive today because of genetic testing.  Had I not learned about MY FAULTY GENE through genetic testing and chosen risk-reducing surgeries, my cancer would have gone undetected until it was too late to beat.  I know myself well–I never would have gone to the doctor with the vague ovarian cancer symptoms of bloating, change in bowel habits, upset stomach, fatigue, or quickly feeling full after eating.  I would have been wheeled into the hospital as an advanced Stage 4 ovarian cancer patient had it not been for my genetic testing and ‘risk-reducing’ surgeries.  However, following new rounds of aggressive chemotherapy, I was once again declared to have NED.  I count every year since my ovarian cancer was found in 2009 as a miracle year!”

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 (now Voice 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.

Kathy founded My Faulty Gene as a way to “pay it forward” for being given the gift of life as a result of her genetic testing.  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?