Personal journey shapes unique perspective

By Robin Huiras-Carlson

When Linda Hasadsri, M.D., Ph.D. (they/them/she/her), began a Mayo Clinic fellowship in Clinical Molecular Genetics after completing training in Clinical Biochemical Genetics, they never imagined the genetic tests they were helping develop would be the same tests that guided their life’s journey. But just after starting the fellowship, Dr. Hasadsri’s personal and professional worlds collided, giving them a dual role as patient and physician.

Now the director of the Molecular Technologies Laboratory in the Department of Laboratory Medicine and Pathology and proud mom to two sons, Dr. Hasadsri’s experiences provide a unique perspective on the quality of Mayo Clinic Laboratories testing, the importance of timing, and the implications of test results for the future.

Back in 2012, Dr. Hasadsri was working through an intense laboratory fellowship. Newly married and pregnant, their life took an unexpected turn when they miscarried the pregnancy. The devastating event triggered a sequence of medical discoveries that saved their life and placed them on a genetic testing track that enabled the family of their dreams. “If that pregnancy and pregnancy loss had not happened, I would not have gotten my cancer diagnosis, I would not have been stage 3 — I would’ve been stage 4. Literally, that baby that never was saved my life,” says Dr. Hasadsri.

Up close and personal with genetic testing

Despite their young age and having no family history of cancer, Dr. Hasadsri was diagnosed with stage 3 colorectal cancer.  A sample of the tumor tissue underwent testing. The results suggested Lynch syndrome, a hereditary cancer syndrome, and a blood sample was submitted for follow-up hereditary testing. Advanced sequencing to detect gene variants related to Lynch syndrome, which increases the risk of colon, endometrial, uterine, and other cancers, was negative.

The negative test result was the first of many Dr. Hasadsri received over the past decade. Each result informed their choices and provided reassurance that nothing had been missed. Moreover, the ability to experience each existing and newly implemented oncology test in the lab provided unique insight into what answers mean to patients.

Navigating health challenges

For Dr. Hasadsri, the miscarriage marked the beginning of an ongoing testing journey. Just after the loss, blood testing revealed a hemoglobin level of five grams per deciliter (g/dL) of blood. The average hemoglobin in adult females is 12–15 g/dL.

“(My primary care physicians) were like, ‘This is not conducive to a successful pregnancy, and we need to get to the bottom of this,’” explains Dr. Hasadsri.

Due to a family history of alpha-thalassemia, Dr. Hasadsri was sent to hematology to determine whether an underlying anemia was at play. The hematology-oncology fellow performing the physical exam found an abdominal mass.

“The whole time I was feeling exhausted from what turned out to be anemia and having some abdominal pain after eating meals, I'd never even thought to examine myself,” Dr. Hasadsri says. “And then once I actually felt that area of my abdomen, I could definitely palpate it as well. I could push around it and feel my lymph nodes were enlarged too. And so that got me worried.”

Cancer was not something Dr. Hasadsri easily accepted. “I’m like, ‘maybe I just have really bad inflammatory bowel disease and my colon is just really angry and hardened from that,’” they say.

CT imaging revealed the mass had penetrated two sections of the colon, causing internal bleeding and a low hemoglobin level. Neighboring lymph nodes were also enlarged. During a follow-up colonoscopy, part of the mass was removed and biopsied. Tumor testing revealed features of Lynch syndrome, but further testing was again negative.

Female colon cancer patients who test positive for Lynch syndrome are at an increased risk of developing uterine, endometrial, endothelial, and gastric cancers, among others.

“If an individual with Lynch syndrome is diagnosed with colon cancer and has a uterus in place, we typically remove the uterus (hysterectomy), fallopian tubes, and ovaries at the time of colon cancer surgery, unless the individual has not completed childbearing,” says Myra Wick, M.D. Ph.D., Dr. Hasadsri’s OB/GYN and medical geneticist. “This reduces cancer risk and the need for additional surgeries in the future.”

The pending nature of Dr. Hasadsri ’s molecular test result at the time they were scheduled to undergo a hemicolectomy, combined with their knowledge that Lynch syndrome diagnosis can only be cemented through molecular genetic testing, empowered them to push back against the recommended surgical approach.

“I remember during the consent process before going into surgery, they were saying, ‘You have Lynch syndrome — we should remove your uterus and ovaries too,’’’ Dr. Hasadsri says. “And I was like ‘WAIT! I still want those, I’m not done with those yet.’”

So the uterus and ovaries stayed. But 75% of Dr. Hasadsri’s colon and more than 30 lymph nodes were removed.

Defying the odds to build a family

After the surgery, Dr. Hasadsri and their spouse, Vincent Pureza, M.D., Ph.D., faced another decision. Because the chemotherapy needed to target any lingering cancer cells would push Dr. Hasadsri into premature menopause and limit their ability to bear children, did they want to undergo in vitro fertilization and preserve embryos so they could one day try for the family they still hoped for?

In the end, the answer was yes. Thanks to a grant from the Livestrong Foundation, the couple successfully created and froze five embryos.

Immediately after the egg retrieval, Dr. Hasadsri began chemotherapy. Over the course of six months — all while still training as a Mayo Clinic fellow — they received 12 rounds of treatment.

“I was told that after chemo, you should probably wait at least a year before trying to get pregnant, because all of those harmful chemicals are still in your body. We don't know what effect they're going to have on the eggs, on a potential embryo, or pregnancy,” Dr. Hasadsri says. “And chemo definitely put me in menopause. But just to be safe I also went on birth control afterwards too, because I was like, I’m not going to take any chances.”

But just one month after chemotherapy ended, the unimaginable happened: Dr. Hasadsri conceived naturally.

“My OB/GYN, who is also a medical geneticist, was happy but also a little freaked out. It was too soon,” Dr. Hasadsri says.

“It is always concerning when women become pregnant in the midst of cancer treatment,” Dr. Wick says. “We're not always sure if there will be implications for the pregnancy,” Dr. Wick says. “We don’t know if some of the treatment the patient is on currently or previously might affect fetal growth or be associated with congenital problems. So, Dr. Hasadsri’s pregnancy soon after chemotherapy placed them into a high-risk pregnancy category, where we monitor things more carefully, including the baby's growth.”

The pregnancy, however, was successful, and so was the delivery.

“And that's how my 7-year-old came into being,” Dr. Hasadsri says.

Three years later, after using the frozen embryos and enduring three pregnancy losses, Dr. Hasadsri had accepted their fate.

“It was like, OK, I guess one child’s enough, I’m perfectly happy to have this one miracle baby that I didn’t even think I would have,” they say. “But then I got naturally pregnant with my second at age 40. I feel very lucky.”

Proactively managing diagnosis

Throughout their medical journey, Dr. Hasadsri has followed the screening and testing recommendations for individuals with Lynch syndrome, despite lacking a genetic diagnosis.

“Even though I still carry a Lynch syndrome diagnosis in my chart, it’s because they would rather err on the conservative side and make sure I am managed appropriately, which I am totally on board with,” Dr. Hasadsri says. “I’d rather be screened more often than less since, even if I were eventually found not to have Lynch, I still worry about my risk of a cancer recurrence.”

That translates into annual colonoscopies. Before having their second son, Dr. Hasadsri also received annual endometrial biopsies. Not long after the baby was born, Dr. Hasadsri underwent a hysterectomy and oophorectomy.

As the sensitivity and specificity of genetic testing increases and genetic targets become more defined, it is possible that a genetic association with Lynch syndrome will eventually be discovered for Dr. Hasadsri. But to date, each new test has yielded negative results.

“I am definitely an example of how sometimes a negative result is just as powerful and just as relieving as a positive one,” Dr. Hasadsri says. “Or that it inches you a bit more toward closure. It's still very, very gratifying and satisfying because you're like, ‘OK, that's just one more piece of evidence that it's probably not something that I inherited or that my kids could inherit from me.’”

Translating experience into action

While Dr. Hasadsri’s interest in genetic testing evolved long before their personal journey intersected with hereditary cancer testing, the experience has fueled their passion.

“Just recently we had an example of a potentially difficult diagnosis with a pregnant patient, it was a condition that is tested for in our laboratory, and Dr. Hasadsri really went the extra mile to test additional family members and send tests kits out,” Dr. Wick says.

Having felt the many emotions that correspond with cancer testing, Dr. Hasadsri understands deeply what is at stake for patients seeking answers.

Learn more

Learn more about colorectal cancer and find a clinical trial at Mayo Clinic.

Join the Colorectal Cancer Support Group on Mayo Clinic Connect, an online community moderated by Mayo Clinic for patients and caregivers.

Also, read these articles:

• Sally Blackwell ‘no longer on the sidelines’ after life-changing surgery for rectal cancer
• You’re at risk of colorectal cancer. Know the symptoms. Get screened.
• New gene markers detect Lynch syndrome-associated colorectal cancer
• Fertility preservation: Understand your options before cancer treatment

A version of this article was originally published as a Mayo Clinic Laboratories Patient Spotlight.