Beth Nguyen was a busy ER nurse, married to her high school sweetheart and the proud mother of two little kids, when her first strange symptoms struck. She was working a 14-hour shift in the emergency room when she started to develop a headache around her right eye, along with dizziness and nausea.
“My first inclination was to check to see if I was pregnant,” she says. “But I was not. I was very healthy — I’d only had my wisdom teeth removed and two C-sections.”
Quickly, her symptoms worsened to pain that shot down her neck, shoulders, and spine, making it difficult for her to stand during her nursing shifts. But when she went to her physician for tests, her blood work and MRI came back normal.
“The recommendation was to decrease my stress, because my job was very stressful,” she remembers. “I thought, ‘Maybe I injured my back lifting heavy people.’ So I better suck it up, keep going.” But her symptoms kept getting inexplicably worse — vomiting, having trouble gripping with her right hand, difficulty maintain her balance, even periods of missing vision in her right eye.
Yet she kept going to work to pay the bills. On the night that ended her career, she was taking care of a patient having a heart attack in the ER when she felt the room start spinning.
“I felt really sick,” she says. “I remember the patient called out, ‘My nurse needs help.'”
Her blood pressure was 80/30, and her heart was racing at 180 beats per minute. (Normal is 60 to 100.) She nearly passed out and was admitted to the hospital, where a spinal tap revealed that her spinal fluid levels were over 50; normal is 10 to 12. Fluid levels that high drastically raise the pressure inside one’s skull, a condition called intracranial hypertension, which elevates the risk of a stroke and blindness.
The ER doctor stared at her in disbelief. “Why didn’t you go to a doctor?” he demanded.
“I did!” she shot back. “But I was dismissed and everything attributed to stress because nothing showed up in the lab work.”
She was put on a pill to reduce her pressure levels and discharged, expecting to feel better. But instead she only felt worse.
When she followed up with a local neurologist, he reacted with aggravation, doubting her complaints. “Of course the pill is helping you,” he told her.
“I felt betrayed,” she says now, “because I’d taken such good people over the years, so why was I being treated with such disrespect?” By the time she got in to see an expert in intracranial hypertension, a neurosurgeon at Johns Hopkins, one side of her face was drooping, her speech was slurred, and her legs dragged.
He took one look at her and grew furious that she had been dismissed by her prior doctors — at any second, she could go blind or suffer a stroke. It was a terrible possibility that could have been avoided, he said, if she’d gotten properly diagnosed from the start.
The neurosurgeon diagnosed her with a disease called syringomyelia, in which cysts, also called syrinxes, form on the spinal cord and destroy it from the inside out. Evidence of it had appeared on her original MRI but had been missed.
“Having worked as nurse for 15 years and being told that, I was very angry and upset,” Beth says. “It was like, how could this happen? But I also felt validated.”
Syringomyelia is a disease that was described in the medical literature as early as the 1500s. The fluid-filled cavities can occur anywhere along the spinal cord, for a number of different reasons, such as trauma or infection, and sometimes occurs with no identifiable cause. It is difficult to estimate the number of sufferers, but the last NIH estimate listed a conservative 40,000 in the U.S. alone.
“We don’t always know why it happens, and it can be quite debilitating,” says Atlanta neurosurgeon Nitin Mariwalla, a cerebrovascular specialist who has not treated Beth. “We think it can be due to genetic and environmental causes.”
About 2 to 13 people get it per every 100,000 in the population. The goal in treatment, according to Dr. Mariwalla, is to “re-establish cerebral spinal fluid flow dynamics” by relieving the area of the blockage.
Beth’s neurosurgeon told her she needed a lumbar shunt to divert the increased spinal fluid. The risks were grave — it could make her symptoms worse, he said, but there was a chance it could help, and if she didn’t do the surgery, she would definitely get worse anyway.
“With two young kids,” she says, “I had to take the chance.”
She had the surgery in November 2012 at Johns Hopkins. Soon after, her speech cleared up, she could grip things again, her thoughts grew clearer, and she could walk unassisted. Her headaches went away and her vision cleared up. But after only a few months, she started having heart palpitations and trouble breathing, and returned to the ER where she had once worked. Her oxygen levels were only in the low 80s, yet no cause could be found.
Desperate for answers, and at the advice of her neurosurgeon, she rushed to the Mayo Clinic group in Jacksonville, which was closer to her home than the 12-hour drive to Baltimore.
“I thought I was going to die,” she remembers.
The doctors there made her get on an exercise bike while sending a balloon through her pulmonary artery. They promptly diagnosed her with heart failure, pulmonary hypertension, and POTS — a nervous system syndrome that causes fluctuation in blood pressure and heart rates. Her previous tests had missed the diagnosis because she had been tested while lying down, not upright.
If she had been diagnosed with syringomyelia from the beginning, with a more aggressive and proactive treatment, she might have prevented the progression of her symptoms, but now she had irreversible damage.
Beth was in shock, especially when she learned that the treatment for heart failure is to avoid salt, but the treatment for POTS is 3 grams of salt per day.
“I said, ‘How could this be?'” she remembers, and the doctors told her: “You’re special.”
Beth admits that no doctor knows how long she has left to live. Her quality of life is grim — today, she is severely disabled, in a wheelchair most of the time, and on oxygen 24/7. She is constantly dizzy and nauseated and has trouble with her vision.
But she remains determined that some good will come out of her experience. So she started Worldwide Syringomyelia & Chiari Task Force Inc, a nonprofit organization to educate the public, nurses, and physicians about the disease so the diagnosis for others will not be missed the way it was for her.
“It is suspected that radiologists often completely miss it because a small syrinx is often overlooked on the MRI,” she says.
The disease is also often dismissed because there is no universal medical treatment protocol in place, something Beth’s organization is working to change. Today, there are six physicians on the medical advisory board, including Dr. Mariwalla. The organization has a 24-hour support group with over 400 active members, and is pushing on a number of different fronts raise awareness about the disease.
“This will eventually take my life; I wanted to get the word out so other people don’t have the same path,” Beth says. “I have to know something positive came out of this — I have to know it hasn’t been for nothing.”