For nearly three decades, behind a big, bright smile and cheerful demeanor, Brandy Chandler struggled through daily activities with an illness diagnosed in her adolescence as Marfan syndrome. She had long become accustomed to suffering bouts of lightheadedness, having to lay down on the floor to play with her baby son and leaning on her husband to do all grocery shopping and cooking.
But when she began to experience short-term memory loss and slurred speech, she decided it was time to take her boss’ advice. Her boss happened to be Ian Butler, M.D., Distinguished Chair in West Syndrome Research in the Department of Pediatrics and attending physician with Children’s Memorial Hermann Hospital.
As Chandler’s supervisor, Butler was very careful to not become involved in her direct care. But as one of the country’s leading experts on dysautonomia and co-director of UTHealth’s Dysautonomia Center of Excellence, he couldn’t shake the feeling that she might have the condition.
Dysautonomia is caused by a dysfunction of the autonomic nervous system, which regulates all the unconscious functions of the body from the heart beat to breathing. It can affect the cardiovascular, gastrointestinal, metabolic and endocrine systems, causing organs throughout the body to work improperly.
It is a disease of multiple organs, Butler explains. The heart can suddenly stop beating; the patient might have convulsions and seizures, fainting, incontinence, vomiting, pallor and blotchy rashes, he says. Chandler’s feet carry a telling sign — they have a purplish cast.
Other symptoms can include nausea, headache, blood pressure fluctuations, fatigue, brain fog, increased heart rate, skin ailments, increased sweating and muscle aches.
Putting science behind the diagnosis
Butler and Mohammed T. Numan, M.D., professor in the Division of Cardiology, are co-directors of the UTHealth Dysautonomia Center of Excellence, which includes 15 research studies and 1,200 UT Physicians clinic patients. Because the disease affects so many areas of the body, the center enables a multidisciplinary approach with neurologists, cardiologists, gastroenterologists and nurses working together.
Although this condition has been studied for more than 40 years, there is still a stigma attached to dysautonomia, also known as orthostatic intolerance, by physicians who tell patients it must “be in your head,” Numan says. Because the damage from dysautonomia is often invisible — chronic fatigue is one of the most common symptoms — the disease can be easy to miss.
“False diagnosis is very high,” Numan says. “It’s been labelled as a psychiatric illness, a stroke condition, epilepsy or migraine.”
Clinicians and researchers such as those at McGovern Medical School have begun to create libraries of published papers that put science behind the diagnosis, turning it from “subjective to objective,” Numan explains.
Research related to dysautonomia includes studies on tilt-table testing, cerebrospinal fluid neurotransmitters, neuropathy, atrial septal defects and migraine, mitochondrial disorders, gastrointestinal disorders, DNA analysis in families and the role of histamine and mast cells.
One of the most recently published UTHealth studies, undertaken in collaboration with Baylor College of Medicine researchers, revealed that there may be a genetic link to orthostatic intolerance. Familial occurrence and vertical transmission of autonomic dysfunction in members of 16 families enrolled in the study suggests a novel genetic syndrome, says Rebecca Martinez, R.N., co-author and research nurse for the team. The paper was published Sept. 24, 2016 in the journal Pediatric Neurology. Butler was the senior author.
The gold standard is the physiological tilt-table test, which involves placing the patient on a special table with a foot support. The table is tilted upward 70 degrees while monitors record brain blood flow, blood circulation through the chest, sympathetic and parasympathetic tone changes, muscle blood flow, and peripheral blood resistance.
“While the patient is undergoing the test, we can match their descriptions of how they feel with the recorded measurements,” Numan says. Those symptoms include a drop in blood pressure, fainting, or cardiac arrhythmia.
“An analogy is that diagnosing whether a patient has dysautonomia without a tilt-table test is like diagnosing pneumonia without a chest X-ray,” Butler explains.
“… I had nothing.”
Dysautonomia can present at any age but begins to affect patients mostly in adolescence and young adulthood. That was the case with Chandler, who was 13 when she began to pass out three to four times a day. She began to have migraines and, at one point, was so fatigued that her father had to carry her upstairs.
That episode sent her to a doctor, who told her that she was malnourished and needed to eat a candy bar.
But the fainting and migraines continued and eventually she was diagnosed with Marfan syndrome. Since people with Marfan tend to be tall — she was 6-foot-2 at age 14 — and there was no genetic test at the time, it was the closest physicians could come to a diagnosis. Even years later when the test for Marfan was available, the cost — $12,000 — put it out of range for her.
A natural athlete, Chandler played several sports in junior high school but had to give it all up because people with Marfan can suffer from thoracic aortic disease. “It was a huge blow,” she remembers. “All of a sudden, I had nothing. I was depressed and still fainting and fatigued. I had to be aware of my daily routine and I stopped doing P.E. They told me I wouldn’t live past my 20s.”
She worked at jobs where she could sit down and her supportive husband, a Gulf War veteran, did the grocery shopping and cooking because she couldn’t stand for more than two minutes without feeling faint and dizzy.
In 2008, Chandler survived thyroid cancer and then a severe allergic reaction called fluoroquinolone toxicity to an antibiotic for a severe sinus infection. The additional stress exacerbated her dysautonomia symptoms, causing a foot drop and severe nerve pain in her arms and legs. It took two years for the pain to subside.
Unable to have children, she and her husband received a wonderful gift in 2013 when they adopted a baby boy. She played with him by lying on the floor and plastered her Facebook page with his photos, many of which she took herself as part of her passion for photography.
In 2015, when confusion and speech problems began, she told Butler she was ready for whatever needed to be done to find out what was wrong.
A magnetic resonance image showed that she had suffered 14 mini-strokes. The tilt-table test was positive. That was followed by a “bubble” test to see if she had an opening in her heart, which often occurs in dysautonomia patients. The test showed that she had a multiple holes in the wall that separates the two top chambers of the heart.
Two months after the wall was repaired, the migraines disappeared and the fatigue and lightheadedness began to lessen. Holes between chambers of the heart increase the chance of a blood clot passing through the heart to the brain, which was most likely the cause of the small strokes she suffered.
“Three to four months later, I was in the kitchen and I realized I had been standing for 20 minutes. Then I realized I was cooking. I hadn’t noticed and I started to cry,” Chandler remembers. “Now I can be a mom and play with my son without lying on the floor.”
She is able to understand firsthand what dysautonomia patients experience.
“I love the fact I can be here as a patient because so little is known about it,” she says. “It’s nice to give everyone a patient’s perspective on things. It affects so many parts of the body.”
Butler and Numan now have a permanent place in her heart.
“I would have never known I was having mini-strokes if they hadn’t kept gently prodding me,” Chandler says. “Truly without a doubt, they saved my life.”