Young Georgia mom plans future, family despite threat of cancer

- The last two years have been bittersweet for Aga Kirchner, as she gave birth to a baby girl, and let go of her little sister, her only remaining family member.

"I'm pretty much I'm the last person left," Kirchner says.

Growing up in Poland, Aga and her little sister Dorota were tight, bonded by the loss of their mother to breast cancer at 39.

"I was always the one who protected her," Kirchner remembers.

Aga and Dorota both underwent BRCA gene testing, after their mother's death.

They were relieved to learn neither carries a gene mutation that raises her risk of breast or ovarian cancer.

So, Aga came to America as an au pair, fell in love with her husband Nathan and got married, while Dorota began her life in Poland.

'Then, when she was 22-years old, she had a lot of pains and different symptoms," Kirchner says. "So they did a colonoscopy, and when they did they found she had colon cancer, stage four."

Doctors told Dorota cancer may have been quietly growing in her colon since she was about 10.

Aga, who had just given birth to April, was devastated.

"She had no chance anymore," says Aga. "Her cancer had already spread to her lymph nodes and her liver. And she passed away six months later."

Then, in July of 2016,  2 months after her sister's death, another setback.

"I went in for a colonoscopy, and they found colon cancer," Aga says.

Aga's cancer was detected early, while it was still very treatable.

But she now has to return to Piedmont Newnam Hospital every few months for blood tests and MRIs, to look for additional cancers.  A blood test revealed Aga has Li-Fraumeni syndrome, or LFS, a rare gene mutation, passed down through families, that all but guarantees she will face cancer again.

Aga carries an alteration in a gene known as TP53, which raises her lifetime risk of more than a dozen types of cancer, from osteosarcoma, or bone cancer, to acute leukemia to breast cancer. And, she's only 25.

"My first reaction was that I started crying," she says.  "Because I was, like, 'My life is a question mark from now on.'"

Aga thought about Dorota, her mother, and many other extended family members. Almost all of them died, from cancer, before their 50th birthday.

"My guess and I think I'm right, is that everyone had the mutation," Aga Kirchner says.  "I'm the first person to know, to actually to find out about this."

Mercifully, Aga's daughter April does not have LFS. Still, after doctors explained Aga has a 50 percent chance of passing the mutation on to her children,  she decided to get pregnant again was too risky. That was thought.

"I always wanted to have a family, to have something I didn't have as a kid," she says.

In January of 2016, Aga underwent a double mastectomy, hoping to prevent her from developing breast cancer.

She wrote about her decision, and how the surgery changed her life, in her blog "Aga in America,"

And, one day, while online researching her medical options, Kirchner discovered there might be a safe way to have another baby, after all.

"I told my husband, 'You know what? There is a chance we can do something,'" she remembers.

If the Kirchners get pregnant through in-vitro fertilization or IVF, Piedmont Fayette genetic counselor Kelly Teed, says Aga's fertilized eggs can be screened for LFS.

"They create the embryos," Teed says.  "Then they test the embryos to see which ones have that gene mutation and which ones don't. And they're able to implant those embryos that don't have that mutation."

Aga and her husband hope to begin the IVF process soon.

In the meantime, she's switched to a vegan diet and goes in every 3 to 6 months for cancer screenings.

But, Aga has hope that LFS will stop with her. So, she can face whatever lies ahead knowing April, and perhaps her future children, won't have to grow up looking over their shoulder.

Aga's blog: againamerica.com/en

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