Doctors Fail To Diagnose Nurse With Rare Disease, Condition Now Fatal

| by Kathryn Schroeder

The failure of doctors to properly diagnose an emergency room nurse’s disease has left her severely disabled with little time left to live.

Beth Nguyen, a mother of two children and emergency room nurse, was working a 14-hour shift when she first experienced strange symptoms. She developed a headache around her right eye, dizziness, and nausea.

"My first inclination was to check to see if I was pregnant," Nguyen told Cosmopolitan. "But I was not. I was very healthy—I'd only had my wisdom teeth removed and two C-sections."

The symptoms soon worsened, causing pain that shot down her back, shoulders and spine, making it difficult for Nguyen to stand during work.

Nguyen went to a physician, and blood work and an MRI were performed—both came back normal.

Doctors told her stress was causing the problems.

"The recommendation was to decrease my stress, because my job was very stressful," Nguyen said. "I thought, 'Maybe I injured my back lifting heavy people.' So I better suck it up, keep going."

Nguyen continued working even as her symptoms got worse over time. She was vomiting, having trouble using her right hand to grab things, and it was hard for her to keep her balance. On certain occasions, she would lose vision in her right eye.

One night, when she was treating a patient having a heart attack in the ER, everything started spinning.

"I felt really sick," Nguyen said. "I remember the patient called out, 'My nurse needs help.'"

Doctors found that her blood pressure was 80/30 and her heart was racing at 180 beats per minute—a normal heart beats between 60 to 100. A spinal tap was done and showed that her spinal fluid levels were over 50—the normal being 10 to 12.

That was the last night Nguyen worked as an ER nurse.

Based on Nguyen’s spinal fluid levels, she was diagnosed with intracranial hypertension, a condition where the pressure inside one’s skull is drastically raised, which can cause a stroke or blindness.

"Why didn't you go to a doctor?" the ER doctor asked Nguyen.

"I did!" Nguyen said. "But I was dismissed and everything attributed to stress because nothing showed up in the lab work."

Medication was prescribed to Nguyen that should have made her feel better but her symptoms continued to worsen.

Nguyen managed to see a specialist in intracranial hypertension, a neurosurgeon at John Hopkins, but by that time, her face was drooping, her speech was slurred, and her legs dragged.

The John Hopkins doctor said she had not been properly diagnosed by the other doctors.

"Having worked as [a] nurse for 15 years and being told that, I was very angry and upset," Nguyen said. "It was like, how could this happen? But I also felt validated."

Nguyen was suffering from a disease called syringomyelia, which causes cysts, also called syrinxes, to form on the spinal cord and destroy it from the inside out.

Evidence of the disease reportedly appeared on Nguyen’s initial MRI but doctors failed to notice.

Syringomyelia causes damage to the spinal cord that, over time, may lead to progressive weakness in the arms and legs, stiffness in the back, shoulders, arms, or legs, and chronic, severe pain, according to the National Institute of Neurological Disorders and Stroke. Other symptoms may also materialize depending on the patient.

About 40,000 people in the United States have syringomyelia.

The exact cause of the disease is unknown.

"We don't always know why it happens, and it can be quite debilitating," Atlanta neurosurgeon Nitin Mariwalla, a cerebrovascular specialist who has not treated Nguyen, said. "We think it can be due to genetic and environmental causes."

Nguyen underwent a risky surgery to have a lumbar shunt placed in her back to divert the increased spinal fluid.

"With two young kids," Nguyen said, "I had to take the chance."

Following the surgery at John Hopkins, Nguyen could speak clearly and grip with her hand again, her headaches went away, her vision cleared, and she was able to walk unassisted. A few months later, though, her heart began palpitating and she had trouble breathing.

The news Nguyen received after seeing doctors at the Mayo Clinic group in Jacksonville was anything but good.

Nguyen was suffering heart failure, pulmonary hypertension, and POTS—a nervous system syndrome that causes blood pressure and heart rates to fluctuate.

Previous tests Nguyen had been given missed the diagnosis because she had been tested while lying down, not upright.

Had Nguyen been diagnosed with syringomyelia from the onset of her symptoms, she may have avoided the irreversible damage the disease has caused.

Nguyen now has an unspecified amount of time to live. She is severely disabled, requiring a wheelchair most of the time, and is always on oxygen. Dizziness and nausea, as well as vision trouble, are a constant in her life.

Unable to work, Nguyen no longer has medical insurance and has accumulated a substantial amount of medical bill debt, reports The Daily Mail. She is also unable to afford medication that could help her be comfortable.

Amid everything Nguyen is dealing with in her life, she has chosen to help others who may face a similar challenge.

Nguyen started Worldwide Syringomyelia & Chiari Task Force Inc., a nonprofit organization. The organization is working to make a universal medical treatment protocol for syringomyelia available.

"This will eventually take my life; I wanted to get the word out so other people don't have the same path," Nguyen said. "I have to know something positive came out of thisI have to know it hasn't been for nothing."

Sources: Cosmopolitan, The Daily Mail, National Institute of Neurological Disorders and Stroke

Photo Credit: The Daily Mail