Juan Gutierrez didn’t notice it at first. It started slowly. He thought, I’m probably just tired or sore from sleeping wrong. But eventually his friends saw that he was having a hard time walking. Over the course of three years, his gait became more unsteady with each passing day. When simple motor functions go awry, the diagnosis often involves a brain problem, and Gutierrez did his best to avoid getting bad news. But he finally went to a doctor and was told he had a brain tumor. An MRI eliminated any doubt.
The only treatment, Gutierrez was informed, was a risky surgery on his brain stem. Before he went forward with the surgery, though, he decided to get a second opinion. That’s how Gutierrez found his way to UT Southwestern and Dr. Juan Pascual’s Rare Brain Disorder Program at the O’Donnell Brain Institute.
The son of a philosophy professor and a literature professor at the University of Málaga, in Spain, Pascual grew up surrounded by books. As a young man, he wanted to follow in his father’s footsteps and study philosophy, but his father warned him away from that path. It would be too difficult to make a living as a philosopher, he told his son. He suggested that Pascual study medicine instead and apply philosophy to his practice. So that’s what he did.
When patients from all over the world have nowhere else to go, they come to the Rare Brain Disorder Program, which Pascual founded in 2007. He is the lead investigator in the lab and its clinical director, specializing in the most difficult problems involving gray matter. An unassuming middle-aged man with glasses, Pascual speaks with a light Spanish accent that has faded from several decades working stateside. He looks like he belongs in a lab coat but balances his clinical know-how with a welcoming presence that puts patients at ease, much like his business attire is often balanced with a pair of sneakers. He seems as comfortable sitting at the dinner table with his wife and 12-year-old daughter as he does telling a family there is nothing more he can do for their loved one. He has a way of communicating that he knows the answer to your question before you finish it, little verbal agreements and nods that make people feel understood.
Pascual wears self-deprecation alongside a rebellious streak that can put him at odds with the medical establishment. He doesn’t place as much trust in technology and Western medicine as one might expect for a leading neurologist. “I have a keen sense of spotting nonsense, probably too well developed,” he says. “I see nonsense a mile away. I always see the holes. I see the gaps. Show me something beautiful, and I can poke holes in it.”
He isn’t too impressed with physicians of a certain type, as well. “What puts me off automatically is the air of self-sufficiency that physicians have,” he says. “The moment I see condescending arrogance or self-promotion, I am radically put off. I start looking for problems.”
Pascual’s challenge is to hear the stories patients have told themselves and other doctors about their illnesses and to decode the truth behind them.
Even though he works for one of the largest medical centers in the country, he prides himself on autonomy. “I don’t like these corporations of people who think alike and do things alike. You should be working against all of the knowledge you have received because it is insufficient,” he says. When asked why someone who is put off by egotistical physicians and critical of large organizations is working at UT Southwestern, he says, “Because they let me do whatever I want.”
Patients travel from all over the world to share their unexplained symptoms with him. Several years ago, a boy from the Middle East who had been diagnosed with cerebral palsy came to Dallas to see Pascual. He was in poor shape, unable to talk and with little control of his limbs. His wealthy parents were desperate to find a solution.
The family described how their son’s symptoms had progressed, and Pascual could see that the child’s medication was making things worse. He came to the conclusion that cerebral palsy wasn’t the right diagnosis and that the boy should be taken off his medication. He put the patient on a limited-protein diet, which would improve the metabolic brain disease Pascual suspected he had. Within months, the boy was walking.
To find the answers his patients are looking for, Pascual balances his philosophy background with scientific investigation. He is currently reading Ludwig Wittgenstein, an Austrian philosopher who died in 1951 and who posited that much of what we consider to be real is actually just a game of language. If you hear the word “water,” it may be a command, a request, an exclamation, or the answer to a question. The word itself has no meaning without context.
This language game is what guides Pascual’s clinical practice. By the time patients come to him, they have heard dozens of interpretations of their illnesses, and they know what to say to lead him to the diagnoses other doctors have given them. Pascual’s challenge is to hear the stories they have told themselves and other doctors about their illnesses and to decode the truth behind them. As Wittgenstein wrote, the context of the language is more important than the individual words themselves. Rather than lean on biometric readings, MRIs, and other data, Pascual asks patients and their families to tell him what they think about when they lie in bed at night. Their answers tell him where to focus in his treatment.
A patient recently came to see Pascual. She was racked with fear about the future of her brain disease. The patient’s daughter was in college, and she worried that she wouldn’t see her graduate. Pascual sat and listened, looking deeply into what her words were telling him. He could hear that the woman loved her daughter, but, more important, he saw that her mental state would hamper her ability to fight the disease. Rather than brush her off and go right to the status of her disease, Pascual spoke with the woman about her fears. He nodded as she shared her worries, reassured her with his mix of humility and expertise. Everything wasn’t solved in that moment, but Pascual knew that if she wanted to find a lasting healing, her fears must subside first.
“She didn’t have anything progressive herself. Death wasn’t an option, even though she lived in constant fear of that,” he says. “The impact of the disease on her own perception was a valid but bizarre belief. It tells you its effect on emotion and intellect.”
Surgery on the brain stem would have been long, complicated, and high risk. That was all avoided because Pascual was able to decode Steve’s language.
Pascual’s job is to treat the symptom behind the language before he can treat the chemical processes in the patient’s brain. The woman’s incorrect perception of her disease had paralyzed her ability to get better, and Pascual knew that even if he had the correct diagnosis and treatment, it would make no difference if she misunderstood what the future held for her. Patients are less likely to comply with and respond to treatment if they live in fear, he says.
After seeing the impact of her anxiety, Pascual connected the woman with a team of providers to help her move past her fear and have a clearer picture of her illness. Pascual says that all the scans and tests and medications in the world won’t make a difference until the physician can find the meaning behind the patient’s words and lead her to a better understanding of her disease.
At a later appointment, Pascual asked the patient to write down her fears about the future of her disease. “Drive myself,” “balance the checkbook,” and “miss daughter’s graduation” found their way to paper. She returned weeks later and read through the list of fears again. She saw that she wasn’t deteriorating, that her worries were unfounded. With her anxiety silenced, real treatment of the brain disease could begin.
For Gutierrez, the patient with the tumor on his brain stem and trouble walking, his search for a second opinion proved a smart move. Pascual knew that an MRI could be misleading; he had seen it before. He suspected that a conversation with the patient would be more valuable than imaging. Gutierrez described how his ability to walk had been deteriorating, but Pascual noticed that many of his symptoms, or lack thereof, were incompatible with a brain tumor. Gutierrez didn’t have any of the facial tics often caused by a brain tumor. And he wasn’t experiencing the ups and downs that typically accompany brain cancer. He had been slowly deteriorating for a couple of years, and his inability to walk was the main symptom. For Pascual, these symptoms made it clear that the patient didn’t have a brain tumor.
Pascual didn’t prescribe any medications or high-tech treatments for this disorder. The solution was much simpler. He prescribed physical therapy to work on balance, strength, and gait. Surgery on the brain stem would have been long, complicated, and high risk. That was all avoided because Pascual was able to decode Gutierrez’s language.
Chelsea Sims was just 8 months old when she had her first seizure. A baby who had difficulty holding her head up, she quit breathing and turned blue. Her mother, Darla, was alone and called 911. “I didn’t even know what a seizure was,” Darla says. “I thought she had died in my arms.”
Chelsea was plagued by petite seizures, up to 500 a day, through the next few years. The family went in search of someone who could tell them what was wrong with their little girl, receiving diagnoses that ranged from nerve damage to lead poisoning. They were told Chelsea wouldn’t live past 10 years old. “I went from hospital to hospital and doctor to doctor until I found somebody. I think I found all the quacks and got rid of them,” Darla says.
In 1998, with Chelsea at 8 years old, the Sims family connected with Pascual while he was training in New York at Columbia University. Chelsea would end up being just the 10th person in the world diagnosed with a rare neurological disorder called GLUT1 deficiency syndrome, which affects the nervous system and usually shows up in the first few months of life. Symptoms include delayed speech, abnormal intellectual development, a lack of coordination, and muscle stiffness in addition to frequent seizures, though it isn’t fatal. Treatment was not a cutting-edge pharmaceutical or even a chemical injection. It was much simpler and more natural. A ketogenic diet that is high in fat and low in carbohydrates would reduce the seizures, Pascual thought.
Not all of Pascual’s patients become such success stories. When patients die, he invites their families back to his lab to discuss the cases, and they almost always agree to meet.
The keto diet worked, but Chelsea has never been seizure free. A good day brings 75 small seizures, sometimes just a couple of seconds that are hardly noticeable to an observer. The Sims have padded their house and have to keep an eye on their daughter should she fall. Growing up, she would flip off the couch, have a seizure on the way to the kitchen, episodes that would sometimes require stitches. “She is lucky to have teeth,” her mother jokes.
When Pascual moved from Columbia to UT Southwestern, it turned the Sims family’s flight and hotel stay into a short drive from Midlothian to Dallas. “That was an answer to a prayer. I was so happy,” Darla says.
When Chelsea was diagnosed, her family didn’t know anyone else in the same situation. They didn’t have a vision for what life would look like down the line, best practices for sticking to the diet, or even someone who would understand what they were dealing with. Pascual describes his patients with a sense of altruism, and Darla sees her role to be a beacon for other families facing this rare condition. “They want to know the nightmare is going to get better,” she says. “You cry, you don’t know what to do, and you want the best for your kid. Then you get out of this, you grow up, and you get focused on what you are gonna do.”
Not all of Pascual’s patients become such success stories. When patients die, he invites their families back to his lab to discuss the cases, and they almost always agree to meet. They go through the medical records page by page, discuss what was done and why, and what could have been done differently. Sometimes they discover that there could have been other options, that mistakes were made. Why would a family agree to walk through the most painful moments of their life, and why would a doctor subject himself to second guesses?
The families want to know that they made the right decisions and that they did all they could, given the timing, severity, and understanding of the disease. For Pascual, it is a learning opportunity as well. The meeting is another chance to decode language and understand the confirmed fears and extinguished hopes of the families he worked so hard to treat. For doctor and family, the pain of the moment pales in comparison to what the conversation could mean for a future patient. It means so much that they come back to Pascual and go through their cases again, putting language into deeper context, trying to save another life.