Richard (Dick) is a 62-year-old business owner whose career path has taken him around the world. Work in international banking, the aviation industry, and consultation on legal internet issues has culminated in an active lifestyle that includes travel between homes in two countries and a network of professional and personal relationships that spans the globe.
Not nearly ready for retirement, at age 60 Dick found himself battling physical symptoms that seemed to have no single name attached, until nearly two years later when an astute nephrologist recognized something that no one else had.
In his mid-50s, Dick began to have gait disturbance issues. "I didn't know what caused it and I didn't seek medical help for it," he said, thinking it was due to age and back surgery he had undergone when he was in his 20s. Instead, he redoubled his efforts to exercise more, ran harder on the treadmill, and continued to bicycle his way around New York City as he had done for most of his adult life.
By Thanksgiving of 2004, however, his walking became markedly worse. He and his wife of 24 years, Kristina, walked for enjoyment, but it was impatience that became the tone as Dick tried and failed to keep up the pace. A visit to his doctor didn't result in any diagnosis but, instead, a referral to a neurologist in January of 2005 and a misdiagnosis of Parkinson's by that specialist. "Because of my gait and how I carried myself, the neurologist thought I was several years older than 61," Dick stated.
Meanwhile, in December the couple closed on a home in Argentina and was beginning renovations on it. In March they were to meet in Buenos Aires to begin moving into the home. Dick was feeling ill the day of his flight, but persevered, got to the airport, flew for 11 hours, and met Kristina at their new home. The next morning, however, he fell and couldn't get up: He landed in the Intensive Care Unit of a local hospital. "Two things were now going on," he stated, "a dangerously low potassium level and a markedly worse issue with walking and weakness." Low blood potassium, or hypokalemia, can result from many conditions. Based on his other symptoms, all kinds of possible diagnoses were ruled out – including Parkinson's.
A week in the ICU stabilized Dick's condition, but still he had no answer as to the cause of his illness. Doctor's suggested that a recessive genetic condition named Charcot-Marie-Tooth (CMT) syndrome – a slowly progressive disorder that affects the legs first and most severely – might be to blame. By mid-April Dick was ready to travel once again and returned to NYC. He was able to get an appointment at a genetics clinic to be tested for the syndrome.
During this time, Dick's condition declined rapidly and he became reliant on, first, a walker and then a wheelchair. He experienced several episodes of incontinence. He was able to continue working, "but I wasn't concentrating well," he said. "Managing my medical treatment was becoming a full-time job."
The genetic test came back negative for CMT, and Dick began to despair of ever being diagnosed, much less cured, of his illness. "I was terribly frustrated, asking myself ‘what's going to happen to me'," he said.
His doctors were also puzzled – and intrigued – by the nature of his illness. Because of the potassium imbalance and extreme weakness, a nephrologist (a specialist in kidney disorders) was called on to test for Addison's disease and other related possibilities. He began his exam with a basic physical, including reflex tests; Dick had a positive Babinski. This muscle reflex in the foot usually disappears by the toddler years, but is present in adults when there is upper motor neuron damage. Searching for the cause of Dick's condition took a new direction.
An MRI of his brain was ordered immediately and the result showed that Dick had the enlarged ventricles that are an indication of Normal Pressure Hydrocephalus (NPH). The hypokalemia that landed him in the ICU was determined to be a rare and unrelated problem, but it took him down a path that led, finally, to a diagnosis and treatment for NPH, the illness he had been suffering for several years. In July of 2005, he underwent surgery for the placement of the CODMAN® HAKIM® Programmable Valve. HAKIM is a registered trademark of Hakim USA, LLC and is used under license by Codman & Shurtleff, Inc.
Dick stated, "I've recovered 90 percent of my abilities and I'm shooting for 100 percent." He's continuing with physical therapy, he's back to running on the treadmill – at an impressive 3.5 miles/hour – and he's working full-time and traveling again. "My wife is ecstatic!"
While most experts say that approximately 375,000 people have NPH, estimates have ranged from about 200,000 to 750,000 cases of NPH. Hospital discharge data shows that only about 11,500 cases a year are currently diagnosed and treated with surgical implantation of a shunt. Since NPH is often mistaken for other conditions, most cases of NPH go unreported and many are left untreated. Only a specialist can properly diagnose NPH. Surgery is not for everyone. There are potential risks and complications; recovery may take time.DSUS/COD/1014/0194