Murlidhar Ahire lies lifeless in the bedroom of his Vikhroli apartment, while his younger son, Tushar tells us he was an active 69-year-old until two months ago. The retired Air India employee has been diagnosed with Creutzfeldt Jakob disease (CJD), a supposedly rare and deadly neurological brain disorder.
Until 10 days ago, Ahire was at Jaslok Hospital’s isolation ward. But with specialists able to do little except offer supportive treatment, now, one room of the flat has been turned into a nursing unit. Although global incidence is one in a million per year, doctors in Mumbai have noticed a rise in numbers, with one patient diagnosed with CJD every month.
Research has been unsuccessful at isolating an organism in patients (called a prion actually). What they have learned is that it’s difficult to kill and lacking in genetic information in the form of nucleic acids (DNA or RNA). It is also characterized by an elongated incubation period, sometimes stretching several decades, before symptoms appear. In keeping with the leading scientific theory, Dr. Annu Aggarwal, consultant neurologist and specialist in cognitive and behavioral neurology with Kokilaben Dhirubhai Ambani Hospital, says prion proteins are to blame.
Prion proteins can be normal or infectious. Both contain the same sequence of amino acids, but the infectious form tends to take a folded shape. “Just like a plank of wood must be carved into furniture, proteins have to be folded to form a structure that’s useful to the human body.
Misfolded proteins known as prions cause many forms of prion disease, including mad cow, Alzheimer’s, chronic wasting, Hutchinson’s and possibly Parkinson’s disease. Prions accumulate in the nervous system and then throughout the body as they convert healthy proteins into deadly ones.” The chain reaction is what leads to brain damage and neuron loss. The disease is indistinguishable from Alzheimer’s disease and the diagnosis between one or the other is often just a coin flip. And the deterioration is often swift. Tushar says Ahire was unrecognizable in a matter of a week.
It started with a simple feeling of imbalance, which he addressed by using a walking stick. Soon after, during a visit to the bank in September, he found himself clutching onto walls for support before he could be seated. A battery of tests revealed nothing. Doctors advised little other than rest. Bed wetting was followed by dizziness, nausea and weakness.
When Tushar returned home one night, he found his father staring at a wall. “All he said was, ‘Something is happening to me but I don’t know what’,” remembers the self employed mechanical engineer, who is on a sabbatical to care for Ahire.
While subsequent tests continued to reveal little about his condition, he was developing symptoms that would raise the suspicion of any neurologist. “Once, my mother called me at work to say my father had been in the shower for two hours. When he walked out, he said he had spent the usual 10 minutes in there,” Tushar remembers.
He researched online for memory loss and decided to admit him to a hospital. Within the next week, Ahire’s left leg and arm were paralyzed. His tonsils had swollen, leaving him unable to swallow or speak. “He spoke slowly in a measured way, as if he was taking time to churn out his thoughts,” says Tushar.
The bigger challenge for family and doctors battling CJD is that in about 85 percent cases, it occurs as a sporadic disease with no recognizable pattern of transmission. Diagnosis is equally baffling.
Ahire’s diagnosis involved an MRI scan to note characteristic patterns of brain degeneration, a CSF test (Cerebro Spinal Fluid) that measures chemicals in the fluid that surrounds the brain and spinal chord and an EEG (Electroencephalogram) to record the brain’s electrical pattern. “Generally, an MRI reflects classic signs that point to CJD, but sometimes, it doesn’t,” says Dr Om Srivastava, director of infectious diseases at Jaslok. Hopeful families insist on running multiple tests even after a diagnosis has been made, which Srivastava calls nothing but an academic exercise. Only a brain biopsy – removal of a piece of tissue from the patient’s brain for examination by a neuropathologist – can confirm the condition. But it’s often discouraged because it’s a complicated and dangerous procedure, and costs a fortune.
It’s often then that doctors use the rule of elimination. They weed out all other possible conditions or types of dementia before arriving at a CJD diagnosis.
The symptoms, often occurring in combination, are a patient’s best signal. While the initial neurological and psychological symptoms include difficulty walking, talking, despair, dizziness, vision problems, anxiety and trouble sleeping, they gradually advance into loss of bladder-bowel control, voluntary movement and memory.
Tushar agrees Ahire had trouble sleeping, and would often complain of being left alone when lights were switched off at bedtime. Unable to speak, chew or swallow, he is now fed every morning with vegetable and lentil puree, protein powder and medicines crushed in water through an abdominal tube.
Researchers across the world are trying to identify factors that affect prion activity and conditions that make a patient susceptible to the disease. But in the absence of any real cure, doctors say they are reduced to attending to symptoms. “If a patient suffers from anxiety, we prescribe anti-anxiety pills. If he has problem walking, we provide gait therapy,” says Aggarwal.
Another essential part of supportive care is to ensure that hydration and nourishment is accurate so that secondary infections from broken skin or otherwise don’t arise.
“When you’re lying in bed, you are predisposed to clots and aspiration in the lungs (which can cause pneumonia) due to secretion deposits,” says Srivastava. Blood thinners are prescribed, and physiotherapy through air mattresses to provide minute vibration and pressure to the lungs is what’s offered.
Families often shoulder the additional burden of misinformation and misdiagnosis.
Hospitals, including a suburban one that Ahire was initially admitted to, don’t have isolation rooms.
Considering CJD as a severely contagious disease, they shun patients. It was only when he was moved to an ACU (Ambulatory Care Unit) at Jaslok that his family learned that the condition cannot be transmitted through casual contact. It isn’t airborne either, which means isolation isn’t mandatory. It’s only exposure to spinal cord fluid and brain tissue of an infected individual that can lead to an infection.
“What families need is confidence and accurate information,” says Aggarwal, referring to precautions prescribed by WHO for hospitals to take. “The worst a medical expert or establishment can do is isolate a patient from his family when he needs them the most,” she adds.
It’s in a bid to trash myths surrounding the condition that doctors often double up as counsellors. “Although incurable, doctors cannot withdraw support. It’s hard for us to shift focus from treating to providing support but sharing accurate information with the family is crucial, including what they can expect at every stage,” says Dr Sirish Hastak, director of neurology at Wockhardt Hospital.
Tushar knows he is well equipped to deal with what’s to come. He has arranged for everything his father may need to get through the day – a catheter to relieve himself, a PEG (Percutaneous Endoscopic Gastronomy) tube for feeding and a full-time attendant who ensures his nutrient-intake is sufficient, and he remains free from infection.
He also seems to have taken care of hope. Despite what doctors say, Tushar spends hours online, reading up on the latest clinical trials conducted around the world.
CJD is a variant of bovine spongiform encephalopathy (BSE) or Mad Cow Disease. The infection is passed between cows through recycling bovine carcasses for meat and bone meal protein, which is fed to other cattle. Eating meat from cattle (excluding dairy products) with BSE was thought to be the cause of CJD. Doctors assert that since products from downer cattle were stopped from entering the food chain years ago and safeguards against Mad Cow have been announced, the infection cannot spread from animal to humans. Acquired CJD accounts for less than 1 per cent cases, and cattle to human transmission, say experts, is less than 200 cases across the world. Most cases are sporadic (85%), and the rest are familial or genetic (5-10%).
Prions are associated with an entire family of neurological disorders that are killing people, wildlife and livestock around the world. These deadly diseases are known as Transmissible Spongiform Encephalopathy (TSE). The operative word is “transmissible.” TSEs include Alzheimer’s disease, Creutzfeldt-Jakob disease, Parkinson’s disease, Huntington’s disease, scrapie, chronic wasting disease and mad cow disease. The disease has killed many species of mammals including dolphins. Victims permanently contaminate the world around them with their bodily fluids. Once contaminated with prions, items cannot be sterilized.