Or, to a situation in which the patient freezes like a statue or a woman gets orgasms every 10 seconds without a triggerIJ Then there are cases where a patient came out of coma, only to start speaking an alien language and one side of a man’s face shrinking in size for no apparent reason. Doctors call them rarest of rare cases. The Rare Diseases Centre in India has on record 3,16,870 such ailments worldwide. Deebashree Mohanty explores
The Chennai infant who catches fire everytime he sweats has thrown up several medical cases that have baffled scientists. Can there be a reason for and a solution to someone developing fangs overnight and his skin lighting up under the sunIJ Or, to a situation in which the patient freezes like a statue or a woman gets orgasms every 10 seconds without a triggerIJ Then there are cases where a patient came out of coma, only to start speaking an alien language and one side of a man’s face shrinking in size for no apparent reason. Doctors call them rarest of rare cases. The Rare Diseases Centre in India has on record 3,16,870 such ailments worldwide. Deebashree Mohanty explores some such medical conditions which are beyond the realm of science, for now
14-year-old Kussum from Keonjhar district in Odisha gets blisters while she sleeps. Every morning, her family discovers horrifying unexplained fresh ones all over her body — from head to toe. Once they heal on their own, new ones take their place. A staggering 228 blisters were spotted on her body in 2010. Kussum had been having these blisters for three and-a-half years. She couldn’t sit or eat or even to sleep and doctors in the district have failed to diagnose this rare affliction. Her father took her to a local witch doctor but that too did not stem the tide. In 2011, experts from Bhubaneshwar finally diagnosed the condition as the Hailey Hailey Syndrome. Also known as Benign Chronic Familial Pemphigus or HHD, Hailey-Hailey occurs due to a mutation in a specific gene that creates a protein essential for skin health. This is listed as the most dangerous rare disease by NORD.
nA 49-day-old baby was born with 12 inches of hair all over his body in Bhopal in 2003. There was hair growth inside his body too. Doctors discovered hair in his stomach lining and also in his mouth and throat. All attempts to shave off the hair from his outer body failed as it would grow back again in a matter of hours. This astonishing case was referred to many doctors in the US who diagnosed it as a genetic disorder — Nomadic Syndrome — wherein body hair grows out of proportion for no reason. The severe condition resulted in the death of this baby 14 months after he was born.
Durga Das (33) of Kolkata suffers from sudden, unexplained hiccups only at night. The bouts usually range for 5-7 hours non-stop and he has been suffering them for 12 years now. No remedies, home or medicinal, have helped his condition. Das has been diagnosed with Hicks Disease which is a rare disorder under NORD.
Rajmohan Nair from Kollam in Kerala can withstand being electrocuted by electricity 30 times the amount that can kill an ordinary man. Till date, no one knows why, even though he is a very well document case studied and discussed by doctors all over the world.
Rare diseases are a global enigma which pop up every once in a while with cases like the one being treated at a Chennai hospital’s intensive care unit. Here, the only job of doctors for the past fortnight has been to apply anti-inflammatory ointment all over the body of newborn Rahul who has been catching fire for no fathomable reason.
Doctors say, Rahul’s suffering from a rare medical condition known as Spontaneous Human Combustion. His parents claim that he burst into flames nine days after birth. By the time he got referred to the Kilpauk Medical College Hospital, he had suffered three more burns bursts. While Paediatrician Dr Narayan Babu said there are only 200 such incidents reported globally, Prof Sreekrishnan, former head of Kottackal Ayurveda College, insists he has tended to thousands of such cases in Kerala itself. “It is known as idivaal karappan and is treated with plants and herbs,” he asserts.
Rahul, meanwhile, has not been turned over to Ayurveda and the mystery around several similar cases continues to draw global huddles looking for answers. “How much ever advanced medical science becomes, there’ll always be some diseases which will remain mysterious. With no possibility of finding a reason for their occurrence, a solution goes out of the window,” Dr Udyan Shetty from the Centre for Rare Diseases in India, says. Every year, he says, around 120 new unexplained diseases are added a crowded list. “There are 3,16,870 rare diseases recorded all over the world. India ranks third in most such cases. The rural belt bears the brunt. Over 90 per cent of these are fatal problems to which we have no answers,” Shetty adds.
Indeed, there is a very thin line differentiating a rare disease from a situation where the body catches fire without trigger. “You cannot put the two in the same list. While one is a defined medical condition that may take time to diagnose but can be medicated, the other is surreal. I am not saying there can never be a cure, only it is beyond the realm of science for now,” Dr Dheeraj Mathur of Apollo Hospitals, Sarita Vihar, tells you.
Mathur recalls having dealt with one such strange case early in his career. “It was in 1996. A woman (40) was referred to us by a Pune institute. She was suffering from a condition wherein she would vomit a dark green semi-solid substance at least 15 times a day. No other symptoms, not even dehydration. We tried everything from emptying out her stomach to keeping her on a liquid diet but nothing worked. Even with an empty stomach, she would vomit 2 ml of the substance. This continued for six months but all her vital parameters ran just fine.
“At a global meet, we discussed her case with a German expert who diagnosed this syndrome as an advanced stage of Texas Hypilopathy Situation. In this, a patient’s liver produces green bile in an overdose. Since it is a new substance, the body keeps on rejecting it,” Mathur explains.
The patient was discharged after umpteen medical examinations and a liver rectification surgery. She was still vomiting but the frequency had reduced considerably,” Mathur recalls.
Scientists of the Georgia Institute of Medical Sciences found that women and children are more susceptible to rare conditions. “This is because in most countries, women are subject to all kinds of physical labour and their immune system takes a hit as soon as they reach puberty,” Mathur says.
The problem for science is that most of these rare conditions appear subnormal. Hence, patients and their families turn to witch doctors for a cure. Take the porphyria cases, for instance. In porphyria, gums recede to give the appearance of fangs, a patient’s skin bubbles and boils when exposed to sunlight and he can only be treated with blood injections. Diagnosed in the 1960s, it contributed in a big way to the vampire legend.
“Porphyria is a very uncommon trait found in men in their late teens. It is caused when heme, a part of hemoglobin, isn’t produced properly. Scientists say that this could be because of a DNA mutation, but nothing has been proven yet,” Dr SK Agarwal from the Noida Medical Centre and a graduate from the New York Medical College, says. Since the 60s, there have been only five cases reported, mostly from the African belt. All patients succumbed to the condition.
Another condition that has foxed doctors is the sleeping statue syndrome which hits women aged 25-50. It appears like any other cold but after some days, the patient suddenly freezes into a statue, eyes blank and vacant, mouth contorted as if in a silent scream. She lies motionless and frozen.
“This very rare condition is known as Encephalitis lethargica, or Sleeping Sickness. It struck the world as an epidemic just after the Spanish flu died down in 1918. Nobody knows its origin or treatment. While most patients diagnosed with this affliction died within a week of the attack, a few came out of their frozen slumber. However, they suffered horrifying behavioural problems for the rest of their lives, becoming very violent.
“They also suffered from amnesia and were unable to recognise their family. Medical experts say, the bacteria that caused the sore throat triggered an immune response which destroyed parts of the brain. But some scientists still think some virus was the culprit,” Shetty says, adding that although it was an epidemic back then, this condition did not resurface since then.
In India, such paranormal conditions are aplenty but go unnoticed as they are not reported. “There are thousands of such unexplained medical mysteries in our villages. But they are not reported. There was the case of a nine-year-old girl from Bihar who used to cry out ants. There were red ants coming out of her left eye every 10 minutes. She was even brought to Delhi for examination but nothing conclusive came out of it. People even termed it a hoax,” Mathur says.
A renowned scientist with the Rare Diseases Organisation in India, Dr Sanath Satapathy has dealt with more than 1,000 rare conditions during his tenure as chairman of the Board.
Now retired, he is contemplating writing a book on rare diseases. “In India, most cases are reported from the interiors because of low hygiene. The environment breeds viruses and bacteria. Since the disease goes unnoticed, the virus grows manifold. There are many such diseases that need urgent attention.
“The Handigodu Syndrome (HS) or Handigodu Joint Disease (HJD) is a case in point. A crippling disorder endemic to the Malenadu region in Karnataka makes it impossible for the patient to stand upright. Of the 155 cases reported so far, most crawl. The ailment remains untreatable,” Satapathy says.
(With an input from Kumar Chellappan in Chennai)
Rarest of rare
Case of mistaken identity
The Frégoli Syndrome leads a person to believe that people he knows have adopted a different appearance and assumed the bodies of strangers. However, other than the complete change in appearance, the personality and identity of the acquaintance is the same as always.
While in some cases, patients believe the person's shape has changed, in other cases, the patient may believe that the identity of his loved one has been replicated into another physical shell.Doctors believe that if you have Frégoli Syndrome, you might go to a grocery shop and be surprised to see your mother behind the desk making out bills.
Even worse, as you exit the building, you would realise your mother has changed form again, and is now the traffic policeman at the red light. As you summon the police to report this, you would be dismayed to realise the two officers who show up to take your report are in fact your mother and your childhood neighbour. When Frégoli syndrome does occur, it's often experienced by people with a history of stroke, head injuries, seizures or Alzheimer's. There is no treatment for this disorder.
Persistent condition
The Persistent Sexual Arousal Syndrome (PSAS) is a nightmare to women who have it.These spontaneous, unwelcome bouts of female sexual arousal — with genitals that experience seemingly endless sensations of tingling, pulsing and throbbing — is only at times lessened by orgasm, and orgasms are just as likely to make the ongoing sensation worse.The sensation can last for hours, and begin again just moments after seemingly having gone away.
Women with this condition may have orgasms as often as every 30 seconds, and these cycles may last for hours on end. The constant heightened stimulation of the clitoris becomes painful.
The PSAS and its symptoms exist independent of sexual interest or desire. It's not nymphomania, an excessive desire for sex. Scientists have no idea about what causes it or how to make it stop. Women with the disorder describe it as torturous. They are forced to spend their nights unable to sleep and their days avoiding contact with anything even a slightly vibrating car seat, can trigger the symptoms. Masturbation offers no lasting relief.
Hair’s the problem
Hypertrichosis is the overproduction of hair anywhere on the body. The condition affects men and women, babies and adults alike. There are variations of the disorder, some resulting in hair growth patterns that likely contributed to ancient wolfman. folklore.
Some people are affected head to toe, while others may only experience unusual hair growth on isolated parts of their bodies. When present at birth, it's the result of the fine, soft hair that covers a fetus continuing to grow, instead of shedding before birth as it normally does. But more often, it develops as a result of some factor other than genetics, such as the body reacting to certain medications or anabolic steroids. Some diseases and conditions, such as advanced-stage HIV or a hormone imbalance, can also result in the unusual hair-growth patterns of hypertrichosis. Underlying causes can usually be treated, and as for the hair, one can get rid of unwanted hair by shaving, waxing and electrolysis. Hypertrichosis is often mistakenly classified as hirsutism which is a type of hypertrichosis exclusive to women and children, resulting from an excess of androgen-sensitive hair growth.