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Robert Frederick was living a typical life, going to work and spending time with his mother, siblings and children. But then it became hard to breathe when walking short distances or climbing stairs. He got dizzy. Perhaps most disturbingly, he passed out several times—once at a Braves baseball game he attended with his siblings.

"I didn't know what was going on!" Robert recalled.

Difficulty controlling AFib with medication

After passing out the first time, he went to urgent care and was then taken to the hospital by ambulance. He learned his symptoms were caused by atrial fibrillation (AFib), an irregular heartbeat.

Robert began to see Dr. David Caras, a Wellstar general cardiologist, and learned AFib is related to high blood pressure. Successfully managing high blood pressure often helps people keep AFib under control. Despite their efforts, AFib sent Robert to the emergency room two more times.

Suspicion of HCM

Dr. Caras reviewed Robert’s hospital records and found he had increased wall thickness of the left ventricle and a gradient—a pressure difference between the left ventricle and the aorta when the heart pumps. These findings were consistent with a condition called hypertrophic cardiomyopathy (HCM). Characterized by abnormal thickening of the heart muscle, this disease makes it difficult for the heart to pump blood effectively.

Dr. Caras referred Robert to Dr. Melissa Burroughs, an HCM specialist at Wellstar. As a Center of Excellence designated by the Hypertrophic Cardiomyopathy Association, Wellstar is one of the leading providers of comprehensive HCM care in Metro Atlanta.

"We have physicians in the group—designated HCM specialists—that are the point person of the patient’s care," Dr. Burroughs explained. “This includes close communication and collaboration with electrophysiologists, surgeons, advanced heart failure specialists, social workers and behavioral health professionals.”

A rare finding leads to Mayo Clinic Care Network collaboration

Robert said, “Dr. Burroughs wanted to do genetic testing to verify that I had HCM."

But genetic testing revealed a rare genetic variant—one not known to be associated with HCM. Dr. Burroughs called it a “diagnostic conundrum.” The genetic variant found was typically associated with a different cardiac disease that Robert did not have. However, he did have clear signs of HCM.

To investigate further, Dr. Burroughs collaborated with other HCM experts through the Mayo Clinic Care Network, of which Wellstar is a member. Mayo Clinic, which is also an HCM Center of Excellence, provided access to its unpublished database, finding Robert’s rare mutation was present in two other family groups with HCM.

“It’s very important that we add to the science—that we include our patients in the registry to enhance what is already known about HCM,” Dr. Burroughs said.

Robert added, “Dr. Burroughs is very persistent. She wanted to know, ‘Why are you having these problems? What’s the root cause?’ She went above and beyond to find that out.”

Maria Fernanda Ortiz was a college junior, pursuing a degree in interior design. But at just 26 years old, her life took an unexpected turn. She discovered a lump in her breast, which led to a cancer diagnosis and expert, multidisciplinary care at Wellstar that would shape her professional aspirations in the future. Maria feels her hopeful attitude and compassionate care team at Wellstar helped her come through treatment with positive outcomes.

Feeling heard in healthcare

After Maria discovered a lump, she initially saw a doctor who went through the motions but didn’t seem to take her concerns seriously. 

“He was so sure it was nothing because I am so young,” she remembered. “I didn’t think it was cancer, but I wanted someone who would get to the bottom of it.”

She then saw her OB/GYN who referred her to Dr. Laura Pearson, a Wellstar breast surgeon at Wellstar North Fulton Cancer Center, for a second opinion. 

Maria got what she was looking for: a doctor who listened and would help her find answers. 

“Maria is the perfect example of a patient advocating for themselves,” Dr. Pearson said. “She did exactly what she was supposed to do for someone her age who finds a lump. When it didn’t go away, she got it looked at. When she didn’t feel like she was being heard, she didn’t let it go.”

A surprising cancer diagnosis

Dr. Pearson immediately performed an ultrasound in the office, followed quickly by a biopsy, which came back positive for cancer. 

"The diagnosis was scary," Maria said. “Dr. Pearson made it as simple as possible to understand by making sketches. She took the time to answer my questions—and she gave me hugs.”

Dr. Pearson added, “I try hard to be methodical and build a story: ‘This is what this means. This is how it applies to you.’ It’s important for patients to understand their plan and how it’s based very specifically on their situation.”

Maria was diagnosed with stage 2A breast cancer, meaning it was a small tumor but had spread to a nearby lymph node. 

“The stage helps us understand how the patient is going to do with standard treatment,” Dr. Pearson explained. “At stage 2A, we’re looking at a 90% survival rate.”