Sean Fischer’s mother had been enduring progressively worsening health issues over several years. She repeatedly asked the same questions, was confined to bed due to severe migraines, and faced difficulties maintaining her balance.
The mystery behind her decades-long ailments was seemingly solved when she was diagnosed with Alzheimer’s disease in June 2022.
Sean reflected, “We spent numerous hours worrying about the possible causes, but it never crossed my mind that it could be early-onset Alzheimer’s. I always thought such a diagnosis was meant for other families, not ours.”
The Fischer family consulted with distinguished neurologists and proceeded to enroll Sean’s mother, who was then 61, in a clinical trial focusing on the Alzheimer’s medication, varoglutamstat.
Then came devastating news that meant Mrs Fischer wouldn’t be eligible for the trial – she was suffering from a persistent leak of spinal fluid somewhere in her spinal system, but doctors couldn’t pinpoint the source – and couldn’t fix it.
They believed it was likely a result of epidurals she’d received during childbirth – an injection in the back that numbs a person from their belly button to their thighs.
It’s a common pain relief option during childbirth and an estimated 61 percent of women who give birth receive an epidural.
After suffering for more than a decade, doctors said a new procedure would allos them to inject dye into Mrs Fischer’s spinal fluid to search for the leak – a small spot in the middle of her back.
A few weeks after they sealed it, all of her symptoms went away and doctors said she didn’t actually have Alzheimer’s – the tiny spot in her back was actually the source of all her symptoms.
Sean Fischer’s mother, 61, was diagnosed with Alzheimer’s disease after years of worsening memory, severe migraines, balance problems, and nausea. But they had no idea the source of her problems was a fixable spinal fluid leak
Mrs Fischer’s health battle began long before her Alzheimer’s diagnosis.
It started in spring 2001, when Sean said he received a call from his dad: Mom had pulled over on the highway, vomiting from a sudden, crushing headache. Her doctor called it a migraine, but months later she lost hearing in one ear and was diagnosed with Ménière’s disease.
She adjusted — avoiding movements that triggered vertigo, wearing a hearing aid in her forties, and taking daily meds for the headaches.
Even as she quietly suffered, Sean wrote for The Free Press, she stayed steady for him and his brothers, never missing a soccer game, school musical, or packed lunch.
In 2010, neurologists at Columbia University diagnosed her with a Chiari malformation, a structural defect where the brain is pushed through the opening at the base of the skull.
They suspected the malformation was caused by a cerebrospinal fluid leak, sparked by her three epidurals from the births of each of her sons.
Epidurals are extremely safe and are administered by inserting a needle in the space of the lower spine just outside the membrane that surrounds the spinal cord.
It delivers anesthetic medication, which numbs the lower half of the body and blocks pain while allowing the patient to stay awake and alert.
However, it can occasionally result in a leak if the needle punctures the thin, tough membrane surrounding the spinal cord containing the CSF, called the dura mater.
An epidural is a safe, widely used method of pain relief during childbirth, delivered by inserting a needle into the epidural space in the lower spine
When this happens, some of the fluid that cushions and protects the brain and spinal cord can leak out into surrounding tissues. It can only be patched up surgically.
The leak had, over the years, led to a loss in cerebrospinal fluid volume, causing her brain to sink. This can lead to severe headaches, nausea and vomiting, hearing changes, memory problems, and double vision.
‘I started high school in 2015, and around that time, I began to notice the quiet dislocation of my mom’s mind,’ Sean wrote for The Free Press.
Sean Fischer wrote about his mother’s misdiagnosis of Alzheimer’s that was really a constellation of symptoms linked to a leak of cerebrospinal fluid
‘When we cooked dinner together, she would have trouble following recipes. She’d stare at her calendar for long stretches of time; making sense of it seemed to require more effort than usual. She started to repeat herself.
‘By the time I left for college in Rhode Island, the phrase “You already asked me that” had become a common refrain in the house I grew up in, but at first, we blamed her, telling her she needed to pay more attention.’
She was seeing doctors for headaches, hearing, and anxiety, none of whom believed there could be a common origin. Her memory problems were worsening as well, which led to Mr and Mrs Fischer to to turn to NYU Langone Health’s Center for Cognitive Neurology.
‘My mom was tested extensively — and two months later came the diagnosis, with the finality of a punctuation mark. Alzheimer’s. When it hit her that there was no cure, my mom was bedridden for three days,’ Sean said.
Hope came with the study. But then doctors called the Fischers and informed them that the CSF leak would not allow her to participate.
Despair took over.
But a few weeks later, Mrs Fischer’s doctor called to tell them about recent medical innovations that would allow surgeons to find and fix the leak, allowing her to participate in the drug trial.
Six months later, doctors inserted a probe through the femoral artery in Mrs Fischer’s leg, fed it upward toward her spinal system, and sealed the leak.
Sean said: ‘Two weeks later, I visited home, and found Mom more alert than she had been in years. There was no absent look in her eyes. As the day went on, I waited for her to start fading—but she was still wide awake at 10 p.m.
‘After three weeks, her vertigo was gone, and her physical therapist told her she didn’t need treatment anymore, because she no longer had any balance problems. After four weeks, she told us she felt 20 years younger.’
After six weeks, her problems with memory were gone entirely.
‘And eventually, Mom’s neurologist confirmed: She did not have Alzheimer’s. The surgeons who fixed the leak were shocked. They had never seen a recovery like it,’ Sean said.
The family later learned that, a year before the procedure, Cedars-Sinai Medical Center had published a newsletter with the subtitle: ‘Physicians Treating Dementia Should Look for Cerebrospinal Fluid Leak—A Treatable Cause of an Otherwise Incurable Condition.’
The study followed 21 patients with headaches, severe fatigue, and diagnoses of Chiari malformation and dementia; nine were found to have a cerebrospinal fluid leak, and repairing it completely resolved their symptoms.
In Sean’s mother’s case, countless specialists across multiple hospitals treated her symptoms in isolation, overlooking the root cause.
But they chose not to place blame on any doctor or institution. It was the system that misdiagnosed her, and ultimately, the system that saved her.
‘More than anything, we feel grateful that a scientific breakthrough came at just the right time; that the real cause of her suffering was found,’ he said.
