Voices from Our Community: Dr. Harold Conn’s Decade of NPH Misdiagnosis

Dr. Harold Conn, normal pressure hydrocephalus advocateThis year marks the 50th anniversary of the recognition of normal pressure hydrocephalus (NPH) as a distinct medical syndrome, through the publication of Dr. Salomón Hakim‘s first thesis in Spanish on NPH, “Some Observations on C.S.F. Pressure. Hydrocephalic Syndrome in Adults with ‘Normal’ C.S.F. Pressure — Recognition of a new Syndrome,” on March 10, 1964. In commemoration of this milestone a half century ago, Dr. Carlos Hakim, HA, other clinicians, and patients hope to mark this year by raising awareness among the general public for the proper screening and diagnosis of NPH. Voices from our Community will spotlight individual journeys on the road to proper diagnosis and treatment of this life-altering condition. 

By Carlos Hakim, Ph.D., and Marvin Sussman, Ph.D.

As a clinician, Harold O. Conn, M.D., knew the changes that occur with normal aging, and he was prepared for them. During his career as a physician, he had treated many elderly patients. He thought that he had studied, read, seen, and heard of just about every disease and condition that could affect him as he got older. As a physician, a liver specialist (hepatologist) with an international reputation, he spent his career teaching about liver diseases and clinical surgery at Yale University, one of the premier clinical centers in the world and a major teaching center for physician training. In 1993, Dr. Conn and his wife Marilyn were beginning to think about retirement and they were looking forward to it.  They had just purchased a spacious eleventh floor waterfront condo in Lauderdale by the Sea, Florida — a town located between the Intracoastal Waterway and the Atlantic Ocean in South Florida. With views of the ocean, it was the perfect place to enjoy a well-earned retirement.

Not long after moving to their paradise, Dr. Conn began to have trouble walking. Oceanside strolls became problematic. He described his gait as “lurching” from one spot to the next, staggering and swaying with each step. When elderly people walk, they limp or walk slowly; when Harold walked his feet seemed to be stuck to the floor. He felt like he was crossing a large steel sheet wearing shoes with soles made of magnets.

A colleague who noted Dr. Conn’s strange walk suggested that he be evaluated by a neurologist. He ignored the advice. Two years elapsed and Harold’s walk progressively deteriorated. Finally admitting the need for help, he sought it at the Department of Neurology at Yale University School of Medicine. As a member of the Yale faculty, he selected the neurologist he thought would be the best to evaluate his condition. Magnetic resonance imaging (MRI) scan, a medical imaging technique that shows, in detail, the internal structures, was performed of his brain. The scan showed dilated (enlarged) ventricles and expanded sulci; the cerebrospinal fluid (CSF) filled central cavities and fissures on the outer surface of his brain. These structures were bigger than they should have been for someone his age. The clinician opined that the surface of his brain was getting pressed up against his skull resulting in symptoms. This senior Yale neurologist made the diagnosis of a Parkinson’s disease-like syndrome caused by cerebral atrophy — the brain shrinkage caused by the loss of brain cells. Dr. Conn sought second, third, and even fourth opinions; and all three senior neurologists confirmed the diagnosis of the initial expert.

In the ensuing year, two other symptoms appeared. Harold became incontinent and, with increased frequency, he couldn’t recall recent events. Without realizing it, he had developed the classic triad of symptoms for Normal Pressure Hydrocephalus or NPH — the “magnetic gait”, incontinence, and short-term memory loss that Dr. Salomón Hakim had identified as the symptoms over 30 years before. For Dr. Conn, as is the case with the majority of NPH cases, the gait disturbance was the presenting symptom. Yet, none of his doctors, all well-respected neurologists, made the diagnosis of this condition that could be easily treated to unlock him from his misery.

His wife had kept a daily diary of their lives since their marriage in 1944. During this time, she noted that her husband had lost his sense of humor; he was no longer funny. Previously, he had a quick, sharp wit. At 77 years of age, the semi-retired physician tried to maintain his activities of daily living. He consulted part-time at a nearby university and spent time with friends. With his decline, however, he was unable to continue to do this. He stopped playing squash and bridge. His ability to walk was rapidly deteriorating. He could barely walk to the garage from his office at the University of Miami. He was told by experts that there was no known effective therapy for his condition. Harold and Marilyn cancelled their plans for their golden wedding anniversary and began the task of putting their affairs in order. He quit his job at the university. His joy of life was disappearing. Sadly, things had gotten so bad that he began hoarding medicines that could speed his final days should his condition deteriorate significantly.

By 2003, a decade after his initial evaluation at Yale, Harold could barely walk, even with the aid of a walker. He contacted his Yale neurologist in Connecticut for help in getting a scooter. Fortunately, his request was refused. This began a series of events that eventually gave him his life back.

After the rejection, Harold turned to a South Florida neurologist for help. That clinician evaluated Harold and told him that he did not have Parkinson’s disease, he had a condition called NPH; a condition unknown to Dr. Conn. He was even more stunned and surprised to learn that that the terrible symptoms that he had endured for the past ten years could possibly be reversed and be made to disappear with a relatively simple procedure called a shunt implant. Dr. Conn was referred to a Miami neurosurgeon named Linda Sternau, M.D. She was the director of Neurological Services at Mt. Sinai Medical Center in Miami Beach. Harold went to her for a work-up. A lumbar puncture was performed that day to determine whether he would be a good candidate for shunting. This is commonly known as a spinal tap, a test that a neurologist performs on a shunt candidate to confirm if the patient truly has NPH. If the withdrawal of a small volume of fluid improves the patient’s condition, the patient may benefit from a shunt implant. The procedure, usually done in the doctor’s office, often ends with dramatic results. Those who witness it are sometimes amazed. Patients who arrive in wheelchairs and walkers, barely able to speak, later walk out of the doctor’s office on their own two legs and begin talking. Dr. Sternau removed 60 ml, or about two ounces, of cerebrospinal fluid from Harold’s spine and his symptoms began to reverse before he got off the examination table.

And as the fluid, then, proceeded to drip out of the catheter of the needle I could sense a change in my mental state,” said Harold. “As each drop came out it seemed that I became more attentive, more alert, more responsive. At the end of the procedure, they removed the needle and I slid off the table and walked around the room virtually normal. I hadn’t walked in six months.”

A week later Dr. Sternau implanted a permanent shunt. As Harold described it. “I was a dead man who had been given a reprieve.”

At age 78 after successful treatment, Dr. Conn launched himself into a study of NPH, becoming an expert spokesperson for NPH awareness, publishing articles in medical journals and appearing on national radio and TV programs. He recorded this YouTube presentation:

A 2008 paper by Dr. Conn and Francis M. Lobo, M.D., demonstrated that a significant lack of awareness of NPH remained among physicians surveyed. The paper, “What Do Physicians Know About Normal Pressure Hydrocephalus and When Did They Know It? A Survey of 284 Physicians,” appearedin the Yale Journal of Biology and Medicine.

As a Good Samaritan, Dr. Conn enthusiastically made himself available to advise patients and the families of friends about the diagnosis and treatment of the condition. In the ensuing decade he wrote a dozen meaningful articles about NPH, its prevalence and heredity, and he also appeared on national radio and TV programs.

Dr. Conn passed away on October 9, 2011, at his home in Pompano Beach, Florida. A tribute to his legacy of activism and awareness-building for the NPH community can be found here: Tributes to a Passionate NPH Physician Advocate — The Passing of Harold O. Conn, MD.

Dr. Conn became the first Posthumous Distinguished Award recipient given by the Hydrocephalus Association (2012).

Note: Dr. Conn’s quotes are from Tibayan, Rose (Master’s Thesis, Columbia University – 2011. Author: Tibayan, Rose Title: The Reprieve: Reversing Dementia Advisor: Jonathan Weiner)