Family seeks community amid diagnosis of rare genetic disease, familial adenomatous polyposis |  News

Family seeks community amid diagnosis of rare genetic disease, familial adenomatous polyposis | News

Getting any diagnosis can be scary. But finding out you have a disease that could affect your children and their offspring is scary. Sarah Garot was treated earlier this year for familial adenomatous polyposis (FAP) and knows how to support her daughters on their journey.

FAP is an inherited genetic disease characterized by the formation of hundreds of polyps in the colon and rectum. These polyps, if left untreated, can turn into cancer over time. The disorder is caused by a mutation in the adenomatous polyposis coli (APC) gene, which plays an important role in controlling the growth of cells in the colon. People with FAP have a 50% chance of passing the altered gene on to their offspring, resulting in generations of affected people in the family.

Garot’s mother underwent a colonoscopy when her health team discovered a tumor in her rectum. Not sure if colorectal cancer runs in their family, Garot decided to get the procedure when they found hundreds of polyps in his colon – not cancer but the potential for cancer. Suspecting that she had FAP, her doctor sent Garot to Loma Linda University Health to be seen by gastroenterologist Timothy Yen, MD, who then performed a genetic test that confirmed the diagnosis.

Garot had her colon removed in June by Loma Linda University Health Surgeons and reduced her chances of colon cancer from 100% to 1%.

Yen says: “His colon cancer mother has saved at least three family members from developing cancer from FAP. “Genetic testing is one of the few things in health care where we can protect the future of the whole family.”

Yen worked with Garot to determine which family members should undergo genetic testing to determine if they also have FAP. Shockingly, Garot’s mother tested negative, but both of Garot’s daughters were tested. Although it is an inherited condition, Yen believes that FAP in this family line starts with Garot. Kayla, 16, and Phebe, 6, are carriers of FAP and have a 50% chance of passing the problem on to their children. With Garot’s persistence in getting a colonoscopy, getting a diagnosis of FAP, having her colon removed, and getting her daughters tested for genetics, her family can get tested and treated appropriately. In addition, reproductive technologies such as preimplantation genetic testing are now able to help prevent family members from passing FAP to subsequent generations.

“I’m worried about my two daughters, but Kayla is a teenager; it’s a very sensitive time,” Garot said. “He knows who he is and is trying to figure out what the future holds for him. Throwing this into the mix, it bothered me even more. “

Kayla and Phebe are too young to have surgery right away. Kayla is undergoing functional tests, such as colonoscopies, and meeting with specialists to determine the best time for her surgery. Garot plans to teach Phebe more about the genetic disorder as she gets older and will need to monitor symptoms until the time is right for treatment.

FAP is notorious for its array of symptoms, some of which can be attributed to other common gastrointestinal problems. There are a few key indicators that people should watch out for and request a diagnostic colonoscopy:

  1. Abdominal pain and discomfort: Persistent abdominal pain, cramps, and discomfort are often the first symptoms of FAP. These symptoms can occur due to polyps in the colon and rectum.
  2. Changes in bowel habits: Unexplained changes in bowel habits, such as alternating between diarrhea and constipation, or sudden urges, may indicate an underlying issue.
  3. Rectal Bleeding: Blood in the stool or rectal bleeding should not be ignored. While it can have a variety of causes, it is important to prevent the possibility of FAP, especially in people with a family history of the condition.
  4. Anemia: Chronic bleeding from polyps can lead to anemia and can manifest as fatigue, weakness, and discoloration.
  5. Unexplained weight loss: Excessive weight loss for no apparent reason may indicate an underlying gastrointestinal issue, including FAP.

Learn: An expert addresses 4 common concerns about colon cancer screening

Yen says that because of its vague symptoms, FAP can go undiagnosed for years and is often discovered when polyps progress to cancer. Fortunately, Garot’s FAP was caught in the early stages, and genetic testing allows her daughters to begin proper management and prevent complications with their early diagnosis.

What started with her mother’s unrelated colon cancer, Garot diagnosed and treated her rare hereditary condition and can be there for her daughters through their inevitable journey with FAP.

It was very difficult to get past the mindset of ‘I gave my children and their future children a genetic problem,’” says Garot. But my mother felt wrong thinking that she might die of cancer. It wasn’t like that, but I can talk to him about those feelings and how I can support them as a mother.”

Garot exemplifies the strength and determination required to face such difficult medical conditions head on. Garot and her daughters are looking for others with FAP in hopes of building a community support group so they can share experiences and not feel alone during a rare diagnosis. Email [email protected] if interested.

Loma Linda University Health is the only one in the region that offers comprehensive care for genetics of FAP cancer and other symptoms of colon cancer. Read more here.

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