Genetic Testing: 24 Real Stories

24 stories match genetic testing. 23 of them mention surgery.

  1. Stage I Invasive Ductal Carcinoma: Susan’s Patient Story

    Stage 1 · ER Positive · Genetic Testing · Supportive Care

    Susan had continued annual breast examinations and mammograms because of dense breasts. A July mammogram was read as normal, but in October she felt a new lump in her left breast. A repeat 3-D mammogram, ultrasound, and biopsy found invasive ductal carcinoma…

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  2. Stage IV ALK Non-Small Cell Lung Cancer: Linnea’s Patient Story

    Stage 4 · ALK Positive · Chemotherapy · Clinical Trial

    Linnea Olson was 45 when she was first diagnosed with lung cancer. Her initial diagnosis was Stage I, and she had surgery that removed most of her left lung, followed by chemotherapy. The first scan after chemotherapy showed something back in her lungs…

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  3. Stage IV ALK Lung Cancer: Jay’s Survivor Story

    Stage 4 · ALK Positive · Biopsy · Clinical Trial

    Jay Petri was diagnosed in 2008 and received clearer answers in fall 2009, when a good biopsy showed lung cancer with an ALK mutation. He understood that Stage IV lung cancer was probably terminal, and the diagnosis was followed by major personal loss when he…

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  4. Stage I Breast Cancer: Kevin’s Patient Story

    Stage 1 · Chemotherapy · Genetic Testing

    Kevin Jarvis found 2 small, hard lumps under his left nipple while showering in April 2013. After seeing “male breast cancer” during an online search, he made an appointment with his GP when he returned from a family trip. Ultrasound and biopsy confirmed…

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  5. Stage IV Colorectal Cancer: Amber’s Survivor Story

    Stage 4 · Chemotherapy · colectomy

    Amber Madden was 42 when persistent stomach pain led to a Stage III colon cancer diagnosis that was soon upstaged to Stage IV. In late July 2024, she thought the discomfort might be constipation, but over-the-counter medicines did not help. At the emergency…

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  6. Stage II BRCA2 Breast Cancer: Rachel’s Patient Story

    Stage 2 · BRCA2 Mutation · Genetic Testing · Hormone Therapy

    Rachel Zitofsky was 38 when she noticed a lump and was diagnosed with Stage II breast cancer in April 2020, during the COVID-19 pandemic. She went to MSK Commack and met with a breast surgeon to plan treatment. MRI showed additional suspicious areas in her…

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  7. Stage IV Colorectal Cancer: Jackie’s Patient Story

    Stage 4 · Lynch Syndrome · Chemotherapy · Genetic Testing

    Jackie was diagnosed with Stage IIIB rectal cancer after constant blood in her stool and worsening constipation led to colonoscopy. CT imaging raised concern for a liver spot, but that finding was later considered nothing. Genetic testing then showed Lynch…

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  8. Stage III MSI-High Colorectal Cancer: Tommy’s Survivor Story

    Stage 3 · Lynch Syndrome · Chemotherapy · colectomy

    Tommy Allen was 57 when severe stomach pain and bright red blood in his stool led to a colon cancer diagnosis. He first had surgery in June 2019 near home in Alabama, but the surgeon could not remove all the cancer because the tumor was wrapped around…

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  9. Stage II Triple-Negative Breast Cancer: Jennifer’s Survivor Story

    Stage 2 · BRCA1 Mutation · Bone Modifying Agent · Chemotherapy

    Jennifer Rancik was 31 when chest pain she thought was a pulled muscle led to a Stage II triple-negative breast cancer diagnosis. Her doctor initially dismissed her request for mammography, but she insisted. Three days after biopsy, she was told to gather her…

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  10. HR-Positive Breast Cancer: Sara’s Patient Story

    ER Positive · Genetic Testing · Hormone Therapy

    Sara Glenn was 38 when she felt a peanut-sized breast lump during a self-exam in summer 2024, while her family was moving from North Carolina to Southern California. Mammogram, ultrasound and biopsy showed a 2 cm grade 1A-1B ER-positive, HER2-negative breast…

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  11. Stage II Colorectal Cancer: Savannah’s Survivor Story

    Stage 2 · capecitabine · Chemotherapy

    Savannah Kaspar was 26 when abdominal pain, severe constipation, and bloody stools pushed her to seek answers. A colonoscopy in August found a mass in her sigmoid colon. It was first described as noncancerous, but Savannah came to MD Anderson, where imaging…

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  12. Stage II MSI-High Colorectal Cancer: Shannon’s Survivor Story

    Stage 2 · Lynch Syndrome · Genetic Testing · Second Opinion

    Shannon was 29 when severe pain after eating eventually led to a Stage IIA colon cancer diagnosis. The pain began in late 2014 and was first treated as an ulcer, then linked to gallbladder problems. Her gallbladder was removed in January 2015, but the pain…

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  13. Stage II Colorectal Cancer: Amanda’s Survivor Story

    Stage 2 · Genetic Risk Mutation · Chemotherapy · Genetic Testing

    Amanda was 29 when light IBS-like symptoms and blood in her stool began. She immediately asked whether it could be colon cancer, but was told it was probably hemorrhoids, a fissure, grief, anxiety, or stress. Her symptoms persisted for almost a year. Blood…

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  14. Stage III MSI-High Colorectal Cancer: Amy’s Patient Story

    Stage 3 · Lynch Syndrome · Genetic Testing · Radiation

    Amy Hart was 34, a mother of 2, and trying to understand why she felt increasingly “off.” Early bloodwork looked normal, and her symptoms were attributed to anxiety, so she began counseling and focused on mental health. The symptoms kept getting worse. She…

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  15. BRCA2 Breast Cancer: Sue’s Survivor Story

    BRCA2 Mutation · Chemotherapy · Genetic Testing

    Sue Friedman was diagnosed with breast cancer at 33 despite being proactive about her health and having no known family history of breast cancer. After initial treatment, she read about hereditary cancer and BRCA1/2 testing. The warning signs fit her…

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  16. Stage IV Colorectal Cancer: JJ’s Patient Story

    Stage 4 · Lynch Syndrome · Chemotherapy · FOLFOX

    JJ Singleton was 27 and had been working hard to get healthier when abdominal symptoms began around Memorial Day 2015. He felt throbbing pain, became extremely tired, had trouble eating and using the bathroom, and was losing about 5 pounds a week. By…

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  17. Stage II Triple-Negative Breast Cancer: Lucy’s Patient Story

    Stage 2 · BRCA1 Mutation · Chemotherapy · Fertility Preservation

    Lucy was diagnosed with breast cancer 3 days after her 24th birthday. Her risk was already personal: her mother had been diagnosed with breast cancer twice and, after the second diagnosis, learned she carried a BRCA1 mutation. Lucy then had genetic testing…

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  18. Triple-Negative Breast Cancer: Stephanie’s Survivor Story

    Triple-Negative · Chemotherapy · Genetic Testing

    Stephanie Rifici Thorkelson noticed a breast lump while nursing her first son and initially thought it was another clogged milk duct. When the lump did not go away after about 1 month, she saw her Ob/Gyn. Mammogram and biopsy showed breast cancer shortly…

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  19. Stage IV Colorectal Cancer: Almudena’s Survivor Story

    Stage 4 · Chemotherapy · Genetic Testing

    Almudena was a medical student doing hospital rotations when rectal bleeding pushed her into the patient role. She had noticed blood in her stool 6 months earlier, at age 25, but was reassured that it was probably hemorrhoids. When bleeding happened again, a…

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  20. Triple-Negative Breast Cancer: Sandra’s Survivor Story

    BRCA Mutation · Chemotherapy · Genetic Testing

    Sandra Monsonís was 43 and had not had a medical checkup for more than 5 years when a friend encouraged her to see a gynecologist. She had some breast discomfort but did not feel a clear lump. That visit found a lump that became a triple-negative breast…

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  21. Breast Cancer: Tamara’s Survivor Story

    DIEP flap · Genetic Testing

    Tamara Bumpus discovered a lump in her right breast in 2016 while undergoing testing before an elective procedure. A mammogram found the lump, and biopsy confirmed breast cancer. Genetic testing then revealed just how deep breast cancer ran through her…

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  22. Stage II MSI-High Colorectal Cancer: Shannon’s Survivor Story

    Stage 2 · Lynch Syndrome · Genetic Testing · Surgery

    Shannon was 29 when severe pain after eating began in fall 2014. At first, doctors thought it might be an ulcer. In December, an emergency-room visit led to an ultrasound showing gallbladder problems, so her gallbladder was removed in January 2015. The pain…

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  23. Breast Cancer: Heather’s Survivor Story

    Chemotherapy · Fertility Preservation

    Heather Kokinda was diagnosed with breast cancer at 29 while breastfeeding her 5-month-old daughter. She first noticed a lump in the shower and thought it might be a clogged milk duct, but it did not go away despite the usual measures. After the cancer…

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  24. BRCA1 Non-Small Cell Lung Cancer: Nadine’s Survivor Story

    BRCA1 Mutation · erlotinib · Genetic Testing

    Nadine Beech was 27, healthy and a non-smoker when she was diagnosed with non-small cell lung cancer in 1997. After she started spitting up blood following a water-skiing accident, the problem was first treated as a bruised lung. Several doctors later, an 8…

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