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Christine Vendel: Genetic testing can save lives. I believe it saved mine.

Christine Vendel
| Monday, December 18, 2023 11:00 a.m.
Metro Creative

I lost a lot this year.

My breasts. My ovaries. My uterus. My belly button. (I’ll explain that last one later.)

But I gained a lot, too.

After enduring four surgeries that benched me from work for a total of 14 weeks, I have removed the vulnerable body parts to reduce my cancer risk below that of the average woman.

I was able to do it before any cancer occurred, thanks to my cousins who warned me of a genetic predisposition to cancer lurking in our family tree.

I had a double mastectomy, then reconstruction to create new “breasts” using my abdominal tissue. The surgery is known as a Diep Flap and I wrote about that complex procedure in an August column. (That’s when I lost my belly button in the abdominal cuts.)

I had an additional surgery to fill out my new “breast” tissue with more abdominal fat and to remove what are known as “dog ears” from the hip-to-hip scar from the Diep Flap.

My surgeon, Suhail Kanchwala from the University of Pennsylvania hospital, removed the extra skin from the ends of the scar and also crafted a new belly button.

Last month, I had a total hysterectomy.

Before these surgeries, I was facing a 70% chance of getting breast cancer and up to a nearly 30% chance of getting ovarian cancer. (The average woman has a 12% risk of breast cancer and 2% risk of ovarian cancer.)

There are no effective ways to screen for ovarian cancer in the early stages.

I was able to undergo preventative surgeries after learning I carry a mutation in my BRCA2 gene, one of dozens of known mutations that makes it harder to suppress tumors.

While BRCA mutations are the most recognized inherited predisposition for breast cancer, there are others, including ATM, CHECK2, PALB2, PTEN and TP53.

Our bodies carry genes that are designed to snuff out faulty cell growth that can cause cancer. We get one of each gene from our moms and one from our dads.

My dad’s BRCA2 copy is good. My mom’s copy is not.

The bad copy leaves some cells highly vulnerable to DNA damage, including damage that triggers cancer. These cancers also have a high risk of recurrence after initial treatment.

My mom died in 2004 from breast cancer without knowing what caused it. She was 61. At that time, scientists had just started linking cancer to genetic mutations and testing was extremely expensive.

Decades later, genetic testing is much more affordable. Insurance covered my test entirely. You can pay out of pocket for about $250.

The test can study certain genes or an entire panel of your DNA to look for mutations. Afterward, you meet with a genetic counselor who explains the results, including what options are available to reduce risks.

I took my test last year after several cousins got cancer and, as part of their diagnosis and treatment, underwent genetic testing. The findings explained a lot as we had already lost my mom’s sister and grandfather to pancreatic cancer, another type linked to BRCA2.

Testing can identify all mutations, including those of “uncertain significance,” meaning ones not yet linked to a particular cancer risk. That gives you the ability to watch for future scientific developments related to that mutation.

All cancers are triggered by altered genes. But only 5% to 10% are known to be caused by inherited genetic changes. The rest are considered related to lifestyle or environmental factors.

It did not seem unusual to me to have relatives die from cancer because that was all that I knew. I didn’t analyze it when I was younger to figure out that they were all on my mom’s side. Not a single person from my dad’s side died from cancer or got cancer.

For people with patterns of cancer in their family, I don’t see a downside to genetic testing. Your risk is the same whether you get the test or not. But once you know, you can take action to reduce your risk.

Knowing whether your cancer is inherited also saves time if you get cancer because your status helps doctors know what treatments will be most effective.

I would, however, advise lining up life insurance before taking the test. Some companies will reject or penalize people with known mutations. Your status does not, however, affect your health insurance. Federal law prevents health insurance companies from considering genetic mutations as pre-existing conditions.

To some, it may seem excessive to have multiple surgeries to prevent something that may or may not happen. But the odds were not in my favor. I saw my mother die and go through excruciating chemotherapy treatments.

She needed a “port” installed in her chest to deliver her medications. She lost her hair. Her cancer came back. She tried to have surgery, but once doctors opened her up, they saw cancer everywhere. She suffered horrific side effects from treatment that ruined any quality of life.

To me, undergoing planned procedures was worth it to try to avoid the aggressive cancers that run in my family. I recovered from each surgery using Tylenol and Ibuprofen. I only needed a total of four narcotic pain pills at home after all the procedures.

My body is scarred after my year of surgeries. I’ve developed a fear of IVs, and I’m still easily fatigued after my latest operation. But I am thankful I could take these actions without trying to fight for my life at the same time.

There are many women who find out about their genetic mutations after a cancer diagnosis.

Going forward, my insurance will cover annual scans of my pancreas. I already get other regular checkups, including with a dermatologist to look for skin cancer.

I am forever grateful to my cousins, who shared their health information with me and my sister. (She had her Diep Flap surgery in October.) They may have saved us both from getting cancer.

At the very least, they gave us the comfort of knowing we did everything we could to try to avoid cancer.

If you get one thing from this column, I would want it to be to talk to your family members about medical conditions. You come from the same gene pool. You can help each other, reduce your risks and maybe save lives.

Christine Vendel is the investigative and breaking news editor at PennLive.com.


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