Cathy Haft's problems started in 2014 with difficulty in reading, and then bladder and impaired balance problems, followed by intermittent dizziness and then unexplained falls but it was to be seven years before she finally got the correct diagnosis.
Haft, a New York estate agent, initially thought she needed new glasses, but an eye exam found her prescription was largely unchanged.
By 2018, unable to show properties because she was too unsteady on her feet, Haft was forced to retire.
For the next four years, specialists evaluated her for neuromuscular and balance-related ear problems in an attempt to explain her worsening condition, which came to include cognitive changes her husband feared was Alzheimer’s disease.
In August 2022, reports The Washington Post, Haft, by then dependent on a walker, consulted a neurosurgeon. After observing her gait and reviewing images from a recent brain scan, he sent her to a colleague.
Less than eight weeks later Haft underwent brain surgery for a condition that is frequently unrecognised or misdiagnosed. The operation succeeded in restoring skills that had gradually slipped away, stunting her life.
“It’s pretty astonishing that this disorder is not that uncommon and no one put the pieces together,” she said.
In her case a confluence of confounding symptoms, a complex medical history and the possible failure to take a holistic approach may have led doctors to overlook a condition that can sometimes be reversed – with dramatic results.
Off kilter
Haft’s reading problem was preceded by a frightening episode in March 2014. She and her husband were scuba diving when she suffered a severe attack of vertigo.
“The whole environment underwater was spinning,” she recalled. The same thing occurred the following day. Several days later, the severe vertigo disappeared.
Within months she noticed she was having trouble reading – she had trouble making sense of a storyline and her vision sometimes seemed blurry. She thought she might need new glasses. Her eye doctor found that her prescription hadn’t changed and said he didn’t know why she was having trouble.
In early 2016, she began experiencing urinary urgency and incontinence. In March, she underwent successful surgery for a prolapsed bladder. Less than two years later, the urgency and incontinence returned.
Haft thought she might be having complications from that operation. When medication didn’t help, her urologist recommended periodic injections of Botox, a treatment for overactive bladder, which were effective.
By then Haft was also contending with balance problems and intermittent dizziness. Headaches, which she had battled since childhood, had worsened.
“Walking was becoming a real chore,” she said. “I was off-balance all the time.” A neurologist, the first of several she consulted, told her she had migraines.
Difficulty walking and her worsening memory led to Haft’s retirement in late 2018. Frequent falls led her to drop out of her daily Zumba class and she quit yoga, which she had practised for 25 years, because she was too wobbly to maintain poses.
“My life just sort of collapsed in on me,” Haft, now 72, recalled. Haft’s husband, Lawrenzo Heit, feared she might be developing Alzheimer’s disease. Her behaviour had become erratic and her short-term memory deteriorated, he said. “She couldn’t remember conversations – things she’d said the day before.”
Clear ears
In late 2019, after two otolaryngologists ruled out balance-related ear problems, Haft started seeing a psychologist for weekly talk therapy. After two months, the therapist suggested her symptoms might be psychosomatic.
“She asked me, ‘Could you be imagining this? Do you think it’s because you retired and have nothing to do?’” Haft said, adding that she felt “disbelief that somebody I had been talking to for months thought it was all in my head.”
In November 2021 she saw a neurologist who specialises in treating patients with unexplained dizziness. The doctor concluded that Haft was suffering from benign paroxysmal positional vertigo or BPPV.
The episodic condition, which is common and most often affects people over 50, occurs when small calcium crystals are dislodged and float in the canals of the inner ear, sending confusing messages to the brain about the position of the body. BPPV is often treated with the Epley manoeuvre, head movements that can shift fragments out of the ear canals.
The neurologist performed the manoeuvre on Haft, but, reports The Washington Post, her dizziness did not abate then – or after subsequent attempts.
By early 2022, the Botox bladder injections stopped working for reasons that were unclear. Haft found the resulting incontinence particularly upsetting.
Between March and July 2022 she saw three more neurologists. The first suspected spinocerebellar ataxia, a rare, inherited and incurable brain disorder that causes problems with balance and memory. That hypothesis was ruled out after an analysis of a blood sample sent to the Mayo Clinic.
The second neurologist suspected a possible neuromuscular problem affecting her legs; testing ruled that out, too.
The third diagnosed vestibular migraines, which cause vertigo. The doctor prescribed a slew of migraine medications that had no effect, along with Botox injections in Haft’s forehead, which alleviated the headaches but not other symptoms.
For more than 20 years Haft has been monitored for a rare disease called genetic Schwannomatosis, which causes benign tumours called Schwannomas to grow on nerves, causing pressure that can result in severe pain.
Haft has undergone six operations to remove tumours on her thigh and elsewhere. She also receives regular MRI scans of her brain aimed at detecting a tumour that could damage her hearing.
When an MRI performed in April 2022 uncovered a possible spinal tumour, the neurosurgeon who treats her for Schwannomatosis sent her to his colleague, a spine surgeon at New York-Presbyterian. Perhaps the growth on her spine was impairing her ability to walk and causing other symptoms?
The spine surgeon told Haft he didn’t think so. He focused on her shuffling gait and examined images from the brain MRI, which showed enlargement of fluid-filled cavities known as ventricles. These ventricles, located deep in the brain, produce cerebrospinal fluid that bathes and cushions the organ.
Sometimes as a result of trauma, a brain tumour or for no discernible reason excess fluid accumulates in the ventricles of people over 60, resulting in a chronic condition called normal pressure hydrocephalus (NPH), popularly referred to as “water on the brain.”
NPH can be treated but not cured.
Symptoms include urinary incontinence, memory loss or personality changes that can develop gradually and may be mistaken for Alzheimer’s disease, along with a shuffling gait and unsteadiness sometimes misdiagnosed as Parkinson’s disease.
Falls and balance problems may occur. In medicine there is even a mnenomic – “wet, wacky and wobbly” – to describe the triad of prominent symptoms.
Because these symptoms are seen in more common conditions, NPH can be overlooked, sometimes for years.
An estimated 6% of dementia cases may be NPH, which can sometimes be reversed, particularly if treatment is started early. In 2007, a prominent liver specialist at Yale recounted his decade-long decline and subsequent recovery from NPH that had been misdiagnosed as Parkinson’s.
The spine surgeon appears to have been the first doctor to zero in on the possibility of NPH, although MRIs in 2017 and 2018 showed mild to moderate ventricle enlargement.
The radiologist who read the 2022 MRI noted that little had changed since Haft’s 2018 scan, adding that hydrocephalus “may be considered” but that the enlarged ventricles seemed of “doubtful current clinical significance”.
The brain surgeon thought otherwise.
He recommended that Haft undergo an inpatient procedure that involves a series of spinal taps to remove excess, fluid followed by close monitoring of her condition.
If she improved, the NPH diagnosis would be confirmed, making Haft a potential candidate for shunt surgery, which diverts excess fluid away from the brain and deposits it elsewhere in the body, such as the abdominal cavity or the heart.
Haft underwent testing in early September.
“Before the spinal tap the disease was running everything,” her husband said. “She could barely walk and the bladder incontinence was terrible. We were setting the alarm every two hours (during the night) so she could go to the bathroom.”
Shortly after the spinal tap Haft walked about 25m down the hospital hallway with little difficulty and no walker. Her incontinence and cognitive function also improved.
“I was just so relieved there was a reason,” she said of the belated NPH diagnosis. The brain surgeon advised her to think about whether she wanted shunt surgery. Success rates vary – some people experience dramatic improvement while others don’t – although an estimated 50% to 80% of people appear to benefit. The procedure carries risks including infection and blood clots.
“I didn’t have to think about it,” Haft said. “I wanted it scheduled as soon as possible.”
A few weeks later she underwent surgery, followed by 10 days recovering in the hospital and at a rehab facility.
More than a year after shunt surgery, Haft still suffers from headaches, occasional dizziness and fatigue, but says that her life has improved dramatically.
She takes regular Pilates and aerobics classes, is able to read without difficulty and has resumed driving, an activity her family had forbidden when her memory cratered.
See more from MedicalBrief archives:
Counting the cost of fatal misdiagnoses – BMJ study
Doctors to pay $29m after misdiagnosis and death
CHIPS: Widespread misdiagnosis and mismanagement of cluster headaches