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Healthy You

The DNA of Recovery: Jenny's Story

Tuesday, February 20, 2018 11:47 AM

Jenny McCarthy had beaten breast cancer, but she continued to experience weakness, numbness and several symptoms that she couldn't understand. After coming to NorthShore's Center for Personalized Medicine to receive genetic testing, she discovered there was more to her genetic makeup that impacted her health. She discusses how she continued her path to wellness below.

Your treatment didn’t start at NorthShore – what brought you to the system?
Initially it was because I was seeking a revision to a breast reconstruction surgery that had a poor outcome. NorthShore came highly recommended and it was in the same general area as my office, so I began researching plastic surgeons within the system. On a broader scale, I’d been struggling with so many other health problems for so long and nothing seemed to be changing. I was frustrated and I wanted some different doctors to take a look at my case and offer their input. When I needed to switch hospitals in order to have the revision surgery, it was an easy decision to move all my care to NorthShore.

Before you met with Dr. Hulick and his team, what did you know about genetic testing?
Only that my initial testing in 2004 hadn’t yielded much useful information. The geneticists at Loyola had told me that while my BRCA panel was negative, they’d seen something odd but that they didn’t really know what it meant at the time. I got wrapped up in treatment and forgot about it after that. It turned out that the ‘something odd’ is a well-established indicator of genetically predisposed cancers. It shocks me how much they’ve learned in 14 years! Since connecting with Dr. Hulick, I’ve had updated BRCA testing as well as the extensive testing that revealed the ATM mutations. The amount of knowledge they’ve amassed, and the pace at which the science is developing, is mind-boggling.

Can you tell us how it felt when you first learned about the genetic mutations found after your DNA test?
I keep avoiding this question because it’s so hard to answer! Honestly, I don’t think I formed a coherent thought about it for a month. What we learned was just so much bigger than what we went in looking for, and I was totally unprepared for that. It was already suspected that there was a genetic component to my cancer, because I was so young and it was so aggressive. And I’d thought all along that the string of health problems I had after cancer must be related, but I never expected that connection to be identified in my lifetime. I thought someday my grandchildren might have a name for it.

Having an answer to those two questions is important, and validating in so many ways. But to have stumbled on information that not only directly impacts my daughters’ health, but the health of their future children, is huge. Besides their own cancer risk, they could have unknowingly had a child with another ATM carrier and the results could have been devastating. It’s a year later now and I am still shocked but mostly, profoundly grateful that I have this information for my family.

What was it like having such a big care team (Drs. Hulick, Wade, Premkumar) addressing your neurological conditions and monitoring your breast health/symptoms?
It’s wonderful, and one of my favorite things about NorthShore. I really feel like I have a team behind me. All of my doctors have easy access to my most recent bloodwork and test results, so nothing is ever duplicated and things can move quickly if there’s ever an issue that needs to be addressed.

Now that you have the power and knowledge to manage your health, how has your life changed? Are there any activities that you’ve jumped back into recently/enjoy doing?
I’ve always tried to do everything in my power to manage my own health and to help the doctors who were trying to treat my medical problems. Before discovering that I have this umbrella diagnosis, all my attempts felt sort of scattershot and I rarely knew if what I was doing was effective. Now that genetic testing has revealed exactly what’s caused all my issues, it’s given me a much clearer idea of what I need to focus on to improve my health. There are specific facets of my diagnosis that I think of as targets now, and I focus on improving those targets however I can.

Yoga is a great example of this—before my diagnosis, I only knew that my balance and coordination issues were getting worse, and it seemed like yoga made that better. Now that I know that I have specific neurological challenges that are associated with A-T, I’ve really stepped up my yoga practice. And the benefits from that just keep on giving. Regular yoga has brought me pain relief and more energy, and now I’m working part-time after nine years on full disability.

Did your experience impact how you approach health for the rest of your family?
Absolutely. I knew as a breast cancer survivor with three daughters that I would have to be vigilant about their cancer risk as they aged into adulthood, but the discovery of the ATM mutation took things to an entirely new level. First, the fact that they’re known carriers qualifies them for high-level screenings that begin at age 26, which is ten years prior to my age at diagnosis. Second, because the genetic component of their cancer risk has been identified, I’m pushing them to incorporate genetic counseling into their regular healthcare. And third, the ATM mutation is suspected to be linked to several other cancers besides breast cancer, so I’m making a lot more noise about sunscreen and healthy diets and exercise than I used to.

Is there any advice you’d give to others who are starting their treatment journey?
I encourage anyone who feels that there are unanswered medical questions within their family to consider genetic testing. Aside from genetic testing, anyone with any diagnosis should feel empowered to educate themselves about their condition, to ask questions, and to push for answers when answers aren’t immediately forthcoming. I don’t think good doctors are threatened by this because they understand that wellness isn’t limited to what happens in an office visit—it’s about how patients live their lives. You may not be able to change your diagnosis, but there may be things you can do to improve the way you feel.

Was there anything in particular that inspired you during the toughest times of your treatment?
Three things: Elizabeth, Abigail and Catherine. That’s all I needed to keep going.