Working together, Mayo Clinic laboratory medicine specialists and clinicians helped Elyn Simmons get her life back — and welcome two new lives to the world.

Elyn Simmons was 31 years old and eager to start a family with her husband, Guy. But in 2016, she was diagnosed with a hormonal disorder — PCOS, or polycystic ovary syndrome — that causes fertility problems. Then Elyn began experiencing other symptoms, including unexplained weight gain, increased body hair, migraines, and severe fatigue.

Teamwork by Mayo Clinic clinicians and specialists in Mayo’s Department of Laboratory Medicine and Pathology found the source of Elyn's problem. In 2018, she was diagnosed with Cushing’s disease — a rare but treatable condition that's often misdiagnosed.

"A diagnosis of Cushing's disease can be confirmed only by laboratory tests. With a confirmed diagnosis, patients can be cured for the rest of their lives," says Ravinder Singh, Ph.D., director of Mayo Clinic’s Endocrinology Laboratory in Rochester, Minnesota.

The Simmons Family

A murky problem

Infertility was devastating for Elyn, a social worker from a large family, and Guy, a fifth-grade teacher. "Coming to terms with the fact that we might never have children — it was a confusing period, kind of a limbo," Elyn says.

By 2018, Elyn's symptoms had grown beyond the infertility associated with PCOS. Her abdomen and face were rounded, and her shoulders were bigger. In addition to the headaches, sleep problems, and excess body hair, she had skin that easily bruised.

"I noticed my appearance was changing, and it was definitely a hit to my self-esteem," Elyn says. "The only fix for the migraines was a two- or three-hour nap, a dark room, and peppermint essential oil. I thought I was a medical mystery."

Symptoms like Elyn's can occur when a person's body has too much cortisol. A hormone produced in the adrenal glands, cortisol performs essential jobs, such as regulating blood pressure and metabolism, and helping the body cope with physical stress. But too much cortisol can cause problems, including infertility.

Laboratory tests of Elyn's saliva and urine confirmed high cortisol levels. An MRI revealed why: Elyn had a noncancerous tumor on her pituitary gland. Located at the base of the brain, the pituitary gland secretes a hormone called ACTH, which then stimulates the adrenal glands — located just above the kidneys — to produce cortisol.

A tumor can cause the pituitary gland to secrete too much ACTH. An additional lab test (Test ID: ACTH) confirmed that Elyn had elevated ACTH and Cushing's disease.

"The testing required for a diagnosis of Cushing's disease is complicated and requires a high level of expertise," Dr. Singh says. "The physical presentation of patients can be very similar to people who have hypertension, obesity, or other conditions that require different treatment versus real Cushing's."

A light at the end of the tunnel

For Elyn, a clear diagnosis — even one involving a brain tumor and a rare disease — brought relief. "Finally, it all made sense," she says. "Now we knew what I had, and we knew how to treat it."

Treatment started with removing the tumor causing the hormonal imbalance. Pituitary surgery is complex because the gland is surrounded by sensitive brain tissue. To avoid tissue damage, neurosurgeons can't always reach and remove every bit of pituitary tumor.

After Elyn's brain surgery, her ACTH levels remained high — indicating she had residual tumor. That meant her adrenal glands were still producing too much cortisol. The next step was to surgically remove Elyn's adrenal glands.

"There are some medical options, but they would not be fully effective for a patient like Elyn," says Benzon Dy, M.D., a Mayo Clinic surgeon specializing in hormonal disorders who performed Elyn's adrenal procedure. "At her young age, medication likely wouldn't eliminate all of the side effects she had from excess hormone production."

Recovering from surgery was tough. In addition to abdominal pain, Elyn had painful low-bone density and dental problems resulting from excess cortisol. She had to take daily cortisol-replacement medication, which caused severe fatigue while her body adjusted.

"Just making the bed or showering was so tiring that I had to lie down. It was very disheartening," she says.

But then, seven months after her adrenal surgery, Elyn learned she was pregnant. Recalling her joy, she wipes away tears. "That was the light at the end of the tunnel," she says. Elyn had specialized care from Mayo Clinic's maternal and fetal medicine team. In August 2019, she and Guy welcomed their son, Jack. In June 2021, their daughter, Matilda, was born. "Both pregnancies were pretty straightforward, and Jack and Matilda were both healthy, normal-weight newborns," Elyn says. "What a relief!"

A patient-centered team

Working hand-in-glove with renowned Mayo Clinic clinicians, the Department of Laboratory Medicine, along with Mayo Clinic Laboratories, is uniquely positioned to help patients.

"Our collaborative care model is very important," Dr. Singh says. "When we develop a new test or technique, we rely on our clinicians to help us validate it. Without that collaboration, it is very difficult to develop precise testing."

Dr. Dy notes that even before he joined Mayo Clinic, he sent patient samples to Mayo Clinic Laboratories. "I knew it was reliable," he says. "The test results are accurate and available quickly. It's really exciting for our patients to get a diagnosis much faster than they would anywhere else."

Elyn will take cortisol-replacement medication for the rest of her life. She follows a special protocol when she feels sick because even a minor illness can result in a life-threatening situation if she doesn't get enough cortisol. She also wears a medical alert bracelet in case she is suddenly ill or injured, and she has routine monitoring of her pituitary gland and bone density.

But none of that slows her down. The Simmons family loves spending time outdoors and hopes to travel to Australia to visit Guy's family. Elyn, who used to compete in 5K and 10K races, wants to start running again.

"I don't have super high expectations, but I miss running, and I'd like to do it just for enjoyment," she says.

She laughs as she recalls that for her, pregnancy and new-baby fatigue were easy. "The chronic nausea, the tiredness  not even close to what I went through before and after my surgery," she says. "Having two healthy babies — that's the biggest accomplishment."