Health

Personal journey shapes unique perspective

Dr. Hasadsri and their sons Silas and Paul take pleasure in a trip at Disneyland this previous fall.

When Linda Hasadsri, M.D., Ph.D. (they/them/she/her), started a Mayo Clinic fellowship in Clinical Molecular Genetics instantly after finishing their training in Clinical Biochemical Genetics, they by no means imagined the genetic assessments they had been serving to develop could be the exact same assessments that guided their life’s journey. But simply after beginning that comradeship, Dr. Hasadsri’s private {and professional} worlds collided, giving them a twin function as each affected person and doctor.

Now the director of the Molecular Technologies Laboratory within the Department of Laboratory Medicine and Pathology and proud mother to 2 sons, Dr. Hasadsri’s experiences present a unique perspective on the standard of Mayo Clinic Laboratories testing, the significance of timing, and the implications of take a look at outcomes for the long run

“WHEN I SAY A GENETIC TEST IS THE BEST TEST OUT THERE YOU COULD GET FROM THE BEST PEOPLE, I KNOW IT FROM MY OWN EXPERIENCE — I’M NOT JUST HYPING IT UP BASED ON SOME PERFORMANCE METRICS,” DR. HASADSRI SAYS. “I ACTUALLY WENT THROUGH THE PROCESS AND COULD TELL YOU ALL THE THINGS A TEST DOES WELL AND WHAT INFORMATION IT CAN YIELD FOR YOU.”

Back in 2012, Dr. Hasadsri was working by means of an intense laboratory fellowship. Newly married and pregnant, their life took an surprising flip once they miscarried the pregnancy. The devastating occasion triggered a sequence of medical discoveries that saved Dr. Hasadsri’s life and positioned them on a genetic testing monitor that enabled the household of their desires.

“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.”

Up shut and private with genetic testing

Despite their younger age and having no recognized household historical past of most cancers, Dr. Hasadsri was discovered to have stage 3 colorectal most cancers.  A pattern of the tumor tissue underwent somatic testing (present Mayo ID: MCCRC). Much to Dr. Hasadsri’s shock, the outcomes got here again suggestive of Lynch syndrome, a hereditary most cancers predisposition syndrome, and a blood pattern was submitted for follow-up hereditary testing (present Mayo ID: LYNCP). Advanced sequencing to detect gene variants associated to Lynch syndrome, which will increase the danger of colon, endometrial, uterine, and different cancers, yielded no pathogenic variants.

The detrimental take a look at consequence was the primary of many Dr. Hasadsri has acquired previously decade. Each consequence informing their decisions and offering reassurance that nothing has been missed. Moreover, the power to expertise every current and newly applied oncology take a look at within the lab has supplied unique perception into what solutions imply to sufferers.

“IT WAS AN UNREAL EXPERIENCE TO BE TRAINED ON THE TESTS THAT I MYSELF WAS EXPERIENCING — IT REALLY LEVELS UP YOUR LEARNING,” DR. HASADSRI SAYS. “WITH EACH NEW TEST OR TECHNOLOGY THAT WAS LAUNCHED, I WOULD HAVE IT BECAUSE WE WERE TRYING TO SEE WHETHER I HAVE A MOLECULAR EXPLANATION FOR THIS CANCER, EITHER HEREDITARY OR ACQUIRED, BECAUSE EITHER WAY I WOULD HAVE AN ANSWER THAT COULD HELP ME PREPARE OR PLAN MY LIFE ACCORDINGLY.”

Navigating health challenges

For Dr. Hasadsri, the miscarriage marked the start of an ongoing testing journey. Just after the loss, blood testing revealed a hemoglobin degree of 5 grams per deciliter (g/dL) of blood. The common hemoglobin in grownup 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 recognized household historical past of alpha-thalassemia, Dr. Hasadsri was despatched to hematology to find out whether or not an underlying anemia was at play. While suspected hematologic culprits had been being mentioned, the hematology-oncology fellow performing the bodily examination discovered an belly 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 as soon as I really felt that space of my stomach, I may positively palpate it as properly. I may push round it and really feel my lymph nodes had been enlarged too. And in order that acquired me fearful.

Although most cancers was throughout the differential analysis, it was not one thing Dr. Hasadsri simply accepted. “I’m like, ‘maybe I just have really bad inflammatory bowel disease and my colon is just really angry and hardened from that.’”

CT imaging revealed the mass had penetrated two sections of the colon, inflicting inside bleeding and a low hemoglobin degree. Neighboring lymph nodes had been additionally enlarged. During a follow-up colonoscopy, a part of the mass was eliminated and biopsied. Somatic tumor testing revealed options of Lynch syndrome, an inherited most cancers predisposition syndrome, however germline testing didn’t establish any causative genetic variants.

Female colon most cancers sufferers who take a look at optimistic for Lynch syndrome are at an elevated threat of creating uterine, endometrial, endothelial, and gastric cancers, amongst 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 take a look at consequence on the time they had been scheduled to endure a hemicolectomy, mixed with their information that Lynch syndrome analysis can solely be cemented by means of molecular genetic testing, empowered them to push again towards the really helpful surgical method.

“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 greater than 30 lymph nodes had been eliminated.

Defying the percentages to construct a household

Dr. Hasadsri rests in mattress simply after surgical procedure to take away colon most cancers.

After the surgical procedure, Dr. Hasadsri and their partner, Vincent Pureza, M.D., Ph.D., confronted one other choice. Because the chemotherapy wanted to focus on any lingering most cancers cells would push Dr. Hasadsri into untimely menopause and restrict their means to bear genetic offspring, did they wish to endure in vitro fertilization and protect embryos so they may at some point strive for the household they nonetheless hoped for?

In the top, the reply was sure. Thanks to a grant from the Livestrong Foundation, the couple efficiently created and froze 5 embryos.

Immediately after the egg retrieval, Dr. Hasadsri started chemotherapy. Over the course of six months — all whereas nonetheless training as a Mayo Clinic fellow — they acquired 12 rounds of therapy.

“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.”

Dr. Hasadsri celebrates their last spherical of chemotherapy at Mayo Clinic.

But only one month after chemotherapy ended, the unimaginable occurred: 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, nonetheless, was profitable, and so was the supply.

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

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

“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 are saying. “But then I got naturally pregnant with my second at age 40. I feel very lucky.”

Proactively managing analysis

Throughout their medical journey, Dr. Hasadsri has adopted the screening and testing suggestions for people with Lynch syndrome, regardless of missing a genetic analysis.

“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 interprets into annual colonoscopies. Before having their second son, Dr. Hasadsri additionally acquired annual endometrial biopsies. Not lengthy after the baby was born, Dr. Hasadsri underwent a hysterectomy and oophorectomy.

“I’M GETTING TO NOT JUST WITNESS THE PROGRESS BEING MADE IN GENETIC TESTING OF TUMORS AND FOR HEREDITARY CANCER PREDISPOSITION SYNDROMES BUT GETTING TO PERSONALLY EXPERIENCE IT AT THE SAME TIME, WHICH IS INCREDIBLE,” DR. HASADSRI SAYS. “BY HAVING TESTING DONE, I GOT TO ACTUALLY SEE HOW IT PERFORMED AND WHEN THOSE TESTS BECAME CLINICALLY LIVE AND AVAILABLE TO ALL PATIENTS, I KNEW FROM TRULY PERSONAL EXPERIENCE HOW FANTASTIC THOSE TESTS WERE.”

As the sensitivity and specificity of genetic sequencing have elevated and genetic targets develop into extra outlined, it’s potential {that a} genetic affiliation with Lynch syndrome will finally be found for Dr. Hasadsri. But up to now, every new take a look at has yielded detrimental outcomes.

“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 expertise into motion

While Dr. Hasadsri’s curiosity in genetic testing advanced lengthy earlier than their private journey intersected with hereditary most cancers testing, the expertise has fueled their ardour.

“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. “I think that is just part of their personality and how they function, and illustrated meeting the needs of the patients and going all out to make sure that happens.”

Having felt the various feelings that correspond with most cancers testing, Dr. Hasadsri understands deeply what’s at stake for sufferers in search of solutions.

“EVERY PATIENT DOES HAVE A LAB TEST AT SOME POINT, AND SO I THINK THAT LABORATORY MEDICINE AND PATHOLOGY IS ESPECIALLY RELATABLE FOR THE PEOPLE WHO WORK IN THE FIELD,” DR. HASADSRI SAYS. “BUT IN MY CASE, I FEEL LIKE IT WAS EXTRA REAL BECAUSE I WAS THAT PATIENT GOING THROUGH THAT PROCESS ANXIOUSLY WAITING. IF IT’S AT THE END OF THE DAY AND YOU’VE GOT AN EXTRA CASE, FOR INSTANCE, YOU WANT TO TAKE THE TIME TO GET THE CASE OUT, EVEN THOUGH IT’S STILL WITHIN TURNAROUND TIME AND COULD WAIT UNTIL THE NEXT DAY, YOU DON’T BECAUSE YOU KNOW WHAT IT MEANS TO BE THAT PATIENT. BECAUSE YOU WERE THAT PATIENT.”

This article first appeared on the Mayo Clinic Laboratories blog.

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