Embracing Family Life After Overcoming a Rare Disorder

Brittany Kale was plagued with nagging symptoms: weight gain, a swollen face, high blood pressure. She also had been trying, unsuccessfully, to get pregnant for years. She finally found relief at Mayo Clinic, where she was diagnosed and treated for Cushing disease. That made it possible for her to start a family and feel healthy again.

The birth of her daughter, Kaylee, in May 2014 gave Brittany Kale new hope. The future became even brighter in 2017 when Brittany welcomed a baby boy, Tripp.

"I didn't think I was ever going to be able to have a child, and for it to become reality, I felt very blessed," Brittany says. "That's when I knew everything was OK."

The 32-year-old pharmacy technician from Bainbridge, Georgia, had been trying to get pregnant for years. That strong desire to become a mom, coupled with a host of nagging symptoms, eventually led her to Mayo Clinic and a diagnosis of Cushing disease.

Unexplained symptoms

An uncommon condition, Cushing disease occurs when a noncancerous pituitary gland tumor secretes adrenocorticotropic hormone, or ACTH. Under normal circumstances, ACTH is made by the pituitary gland, and it regulates the body's production of cortisol. When a pituitary tumor secretes ACTH, it stimulates the adrenal glands to make too much cortisol. The extra cortisol triggers symptoms such as weight gain, fragile skin, fatigue, muscle weakness and more.

Brittany began to notice symptoms of Cushing disease in 2011 — although at that point she had no idea what was causing them.

"I had gained weight. I looked swollen in my face," Brittany says. "I would tell people my red face was due to rosacea. But I didn't know what was wrong with me."

"I felt horrible emotionally, physically and mentally. I was in bad shape."

Brittany Kale

Her concern grew when she learned she had high blood pressure. "That's when I started wondering if something more serious was wrong," Brittany says. "I felt horrible emotionally, physically and mentally. I was in bad shape."

After routine bloodwork for her employee physical in early 2012, Brittany found out that on top of her other medical issues, her cholesterol also was high. She began researching her symptoms and came upon Cushing disease. It seemed to fit.

Brittany asked her local health care provider to check her cortisol levels in February 2012. When they came back abnormal, Brittany was referred to an endocrinologist in Alabama. That specialist performed additional tests and then recommended Brittany go to Mayo Clinic's Florida campus for further evaluation.

A path toward better health

At Mayo Clinic, Brittany met with Victor Bernet, M.D., chair of the Department of Endocrinology, who ordered tests to check the level of cortisol in her blood, urine and saliva. Those tests and an imaging exam confirmed the diagnosis Brittany had suspected: Cushing disease.

"When we conducted an MRI, we saw she had a benign tumor on her pituitary, which was causing the adrenal glands to overproduce cortisol," Dr. Bernet says.

Dr. Bernet arranged for Brittany to meet with Mayo Clinic neurosurgeon Ronald Reimer, M.D., who recommended the tumor be surgically removed. After talking it over with Dr. Reimer, Brittany decided to move forward, and she underwent surgery on Aug. 10, 2012.

"I feel very blessed to be back to normal, and I'm most looking forward to being happy and living life with my family."

Brittany Kale

"Dr. Bernet and Dr. Reimer are two of the most caring doctors I've ever met," Brittany says. "Dr. Reimer checks in on me from time to time. It means the world to me to know that he cares that much about his patients."

After the tumor was removed, Brittany began taking hydrocortisone replacement therapy to provide her body with the correct amount of hormones until it could do so once again without medication.

"On average it takes four to 12 months to awaken the remaining normal pituitary cells that make ACTH," Dr. Bernet says. "You start at a higher dose and gradually lower it until those cells in the pituitary can produce ACTH on their own."

The surgery and treatment worked. Within six months, Brittany's symptoms went away. "I lost a lot of weight and was getting compliments at how good I looked," she says.

By July 2013, Brittany tapered off all the medicine. Just one month later, her wish to start a family was fulfilled when Brittany learned she was pregnant.

Five years later

In August 2017, for their 10th wedding anniversary, Brittany and her husband went on a road trip to Montana, Wyoming and Colorado. It's a trip Brittany had made 13 years earlier when she graduated from high school and had always wanted to go on again. The trip also was a celebration of the five-year anniversary of the surgery that put her on a path to renewed health.

"When I was sick, I didn't want to be around people. To be able to have two children and feel normal … it's hard to describe," Brittany says. "I feel very blessed to be back to normal, and I'm most looking forward to being happy and living life with my family."

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