A Colon Cancer Diagnosis During Pregnancy Led This Mother to Learn She Had Li-Fraumeni Syndrome

For the first two months of her pregnancy, Kristine Koser felt pretty good. Koser and her husband, Andrew, couldn’t wait to welcome their daughter Aubrey into the world. Everything seemed good. Right. But as her pregnancy progressed, Koser began experiencing uncomfortable symptoms like chronic constipation. At first, she felt like if she rested and stayed hydrated, the symptoms would subside. Instead, they worsened. Soon Koser found herself hospitalized. Doctors ran a number of tests and discovered a bowel obstruction; further testing showed that Koser had stage III colon cancer. However, this was not the end of the health surprises that the Koser family would face. According to reporting from Abbey Taylor of Spectrum News 1, doctors later diagnosed Koser with Li-Fraumeni syndrome.

About Li-Fraumeni Syndrome

Li-Fraumeni syndrome is an inherited predisposition to a wide range of cancers, some of which may be rare. The condition results from TP53 gene mutations which prevents the body from stopping malignant tumor formation. While Li-Fraumeni syndrome is typically inherited in an autosomal dominant pattern, it occurs sporadically (without a family history) in some cases. In Koser’s case, her mutation occurred spontaneously. People with Li-Fraumeni syndrome have a 50% chance of having cancer before or by age 40, with the incidence rising to 90% by age 60. Most people will have two or more cancers throughout their lives. Because young children are susceptible to cancer, people with Li-Fraumeni syndrome, or who have a family history of Li-Fraumeni syndrome, should undergo regular cancer screening.

Cancers associated with Li-Fraumeni syndrome include osteosarcomabreast cancergliomaneuroblastomasoft tissue sarcomaadrenocortical carcinoma, and acute leukemia – though this is, by far, not a complete list. Unfortunately, there is no cure for Li-Fraumeni syndrome. Treatment involves chemotherapy and other cancer-targeting therapies. However, peoplewith Li-Fraumeni syndrome do have an increased risk of cancer induced by radiation, so radiation should be used sparingly and with caution.

The Koser Family’s Story

Kristine Koser was able to undergo chemotherapy during her pregnancy. When Aubrey came into the world after 36 weeks of gestation, her parents were delighted. They already deeply loved and appreciated their beautiful baby girl. Aubrey has some paralysis that limits her mobility and ability to walk. But her parents note that she is still bubbly, joyful, and immensely positive. These traits have helped Aubrey through her own fight with cancer; you see, Aubrey inherited Li-Fraumeni syndrome from her mother, and was later diagnosed with rhabdomyosarcoma at two years old. At nearly four years old, Aubrey is almost done with her chemotherapy!

Despite their struggles, the Koser family remains strong and resilient together. They recently welcomed their second child – via in vitro fertilization – into the family. As they move forward, they only hope that their future brings health and happiness.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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