Archive for the ‘RARE DISEASES’ Category

A healthy man was licked by his dog. He was dead within weeks

Thursday, November 28th, 2019

The 63-year-old man showed up in the hospital with a burning sensation in his left leg and muscle pain in both legs. His flu-like symptoms were severe, with laboured breathing for three days. He had petechiae, or rounds spots on the skin that look like rashes as a result of bleeding capillaries, which made his legs look discoloured.

The patient’s heartbeat was stable, doctors said, even though he was running a temperature of 38.8 degrees. His laboured breathing caused an inadequate supply of oxygen to his tissue. His failing kidneys were not producing urine, researchers wrote.

The man was infected with a type of bacteria found in the saliva of healthy dogs and cats.

The man was infected with a type of bacteria found in the saliva of healthy dogs and cats.Credit:iStock

But doctors had no idea what was wrong with him. He had not recently been in the hospital. They suspected some kind of bacteria, but he didn’t have any open wounds and he didn’t have meningitis.

It wasn’t until his fourth day in the hospital that a blood test revealed that the man had a type of bacteria found in the saliva of healthy dogs and cats. It’s a kind of bacteria that’s usually only transmitted to humans if they are bitten.

But the German man is dead because his dog licked him.


Baby loses all his hands & feet after throat infection turns to sepsis

Wednesday, August 14th, 2019


A mum has shared the horrifying details of her baby losing all four of his limbs after a throat infection turned into deadly sepsis.

Oliver Aisthorpe has made a miraculous recovery after doctors warned mum Abigail Wardle, 23, that her 11-month-old son wasn’t going to pull through.

And even after he beat the infection, Abigail, from Cleethorpes, in the UK, had to endure the horror of Oliver’s leg self-amputating and coming away in her hand as she held him in his hospital bed.

It was a shocking ordeal considering just 48 hours earlier he’d been a happy, giggling little boy.

Oliver Aisthorpe has made a miraculous recovery after a deadly illness robbed him of all four limbs. Picture: Caters News

Oliver Aisthorpe has made a miraculous recovery after a deadly illness robbed him of all four limbs. Picture: Caters News

“Oliver had seemed a bit under the weather. But that night, he got more ill and seemed lifeless,” Abigail said. “When I moved him, it was as though his bones were aching.”


Doctors stunned by extremely rare case of Italian woman who sweats blood

Wednesday, October 25th, 2017

Washington: Doctors were baffled when a 21-year-old woman was admitted into an Italian hospital for “sweating blood” from her face and her hands, a condition she’s had for three years, according to two physicians from the University of Florence.

It’s a condition few doctors have seen, and some have questioned whether sweating blood is even possible. Cases of people sweating blood are uncommon, and the Italian had floated the idea that the woman may be faking her symptoms.

The bleeding has no clear apparent trigger and can happen while the woman is asleep or during physical activity, wrote doctors Roberto Maglie and Marzia Caproni in a case report published in the Canadian Medical Association Journal on Monday. The bleeding becomes more intense, she told doctors, during times of stress, and the episodes can last from one to five minutes. The woman has isolated herself out of embarrassment, and reported symptoms associated with major depressive and panic disorders, doctors said.

After a round of tests and observations, and after ruling out the likelihood that she was faking her condition, doctors diagnosed the woman with a rare condition called hematohidrosis, in which patients spontaneously sweat blood through unbroken skin. But what causes the woman to “sweat” blood remains unclear: Despite the blood’s sweat-like appearance, doctors aren’t certain whether blood is passing through sweat glands. The bleeding reportedly has occurred through areas without sweat glands or through follicles, the doctors said.

Jacalyn Duffin, a hematologist and medical historian at Queen’s University in Kingston, Ont., said she had never come across a case of patient sweating blood herself, and that few doctors have. In a commentary that accompanied the case report, she wrote that she was initially skeptical about the condition of the woman in Italy until she dove into medical literature and found that at least two dozen similar cases had surfaced around the world since about 2000.

Of the 42 reports Duffin came across dating back to 1880, almost half had appeared in the last five years, making her wonder whether there has been an increase in cases or if it’s becoming more recognised by doctors. Medical writers have previously traced the condition of sweating blood to the story of Christ’s suffering and the crucifixion, but hematohidrosis has appeared in scientific literature, too. Two treatises by Aristotle from the third century B.C. reference sweat that either looked like, or actually was, blood.

Still, Duffin believes the condition’s association with Christianity and religion may make it more difficult for doctors to accept. Since publication of the Italian case Monday, three people have contacted Duffin to tell her they believe they have the condition.

“That suggests to me that there may be more people who get it,” she said. “They either aren’t taken seriously by their doctors, or they hide it because it’s stigmatized.”

Recently reported cases make Duffin believe the condition is both “possible and plausible,” as the reports are credible, she said. Patients with hematohidrosis have their blood tested and are monitored by doctors, who look to see whether patients are scratching themselves. The majority of cases involve young women or children from around the world, making it difficult for Duffin to believe that the cases are a result of copycat behaviour.

Many of the reports Duffin analysed documented that the bleeding was preceded by emotional trauma, such as witnessing violence at home or at school. In all cases, the condition was transient, lasting anywhere from a month to four years. But little else about the bleeding, such as its causes or how to stop it, is known, she said.

The woman in Italy so far has been treated with propranolol, a heart and blood pressure medication, which has reduced but not completely stopped her bleeding.

Washington Post

Henry Sapiecha

Children with deadly genetic condition HT-1 get fully subsidised treatment

Sunday, July 10th, 2016

Twelve-year-old Charbel Torbey, with his dad David, has the extremely rare genetic condition tyrosinaemia type 1 (HT-1)image

Twelve-year-old Charbel Torbey, with his dad David, has the extremely rare genetic condition tyrosinaemia type 1 (HT-1). Photo: Wolter Peeters

As Charbel’s parents dressed their four-month-old for his christening they noticed his nappy wouldn’t fit over his engorged tummy.

“He was really bloated, and his body was covered in these different coloured patches and he was squirming in pain,” Charbel’s father David Torbey said.

“We didn’t know that his organs had started shutting down.”

The new parents rushed their baby to hospital. Two days later he was diagnosed with the rare genetic condition Tyrosinaemia​ type 1 (HT-1) and treated with the orphan drug nitisinone (Orfadin).

“The doctors told us another day or two and he would have been dead. We were very lucky,” Mr Torbey said.

Just one in 100,000 babies are born with HT-1, amounting to fewer than 20 cases in Australia.

Without access to nitisinone most babies with the metabolic condition don’t live past their fifth birthday. The only treatment is a liver transplantation.

The oral capsules, distributed in Australia by Menarini, can cost between $2000 and $8000 a month and increases as the patient grows.

Those children are now assured fully subsidised access to the oral pill after the federal government added nitisinone on the Life-Saving Drugs Program (LSDP), committing $12.3 million to cover the cost over the next five years.

HT-1 patients don’t have the enzyme needed to break down tyrosine, an amino acid in protein foods, which builds up in the liver causing serious damage to the organ as well as the kidneys and brain.

The metabolic condition is easily missed at birth and the first few months of life with only ague symptoms including fever and failure to gain weight. Eventually the child develops jaundice – a yellow tinge to the skin and eyes – and a distinctive cabbage-like odour to the skin and urine.

A handful for paediatric services in public hospitals have been footing the bill for the drug since it was approved by the Therapeutic Goods Administration in October 2010.

But families of children with HT-1 had been looking to the future with uncertainty, knowing most hospitals don’t provide the drug, and adding the costly treatment to their drug store was an undesirable prospect for stretched health budgets.

Director of pharmacy at the Children’s Hospital Westmead Peter Barclay said he is worried his patients would struggle to access the drug when they aged into the adult healthcare system before the LSDP listing.

“There’s a lot of uncertainty about what happens to these children when they leave our care,” Mr Barclay said.

“It’s a barrier to finding another doctor and another hospital that will agree to supply the medicine, which would cost them tens of thousands of dollars a year for that single patient.

“The listing is great news for families who now know their children will have access anywhere in Australia. This is truly a life-saving drug.”

Mr Torbey said the concern was the hospitals losing funding for the drugs.

“Our biggest fear was the hospitals would say ‘We’ve had your funding cut, so you’ll have to find somewhere else to get [nitisinone]’,” he said.

“[The LSDP listing] means we don’t have to worry about Charbel later in life. That he won’t be constantly thinking about where he’s going to get [his medication].”

The father from Belfield in Sydney’s south-west knows how dire access to HT-1 can be outside of Australia.

Charbel had become ill during a family holiday in Lebanon when he was six months old and taken to a local hospital where another baby had just been diagnosed with HT-1.

“[The doctors] begged us to donate some of Charbel’s medicine to them,” Mr Torbey said.

“But we just didn’t have enough to give away and get Charbel back home. I’m still torn up about that. I don’t know what happened to that kid.”

Almost 12 years on Charbel has grown into a tall, lean boy.

The talented rugby player will need to take nitisinone for the rest of his life and follow a strict protein-free diet. He will never be able to eat meat, eggs, milk, cheese, nuts or lentils.

“In a way he’s lucky he doesn’t know what he’s missing out on,” Mr Torbey said.

“But he loves the smell of meat on the barbecue.”

tytrcvi yt

Henry Sapiecha

Doctor Tom Borody claims faecal transplants curing incurable diseases like Crohn’s

Tuesday, October 7th, 2014

Australian doctor, Professor Tom Borody claims to be able to cure diseases such as Crohn’s, Colitis, auto immune conditions and even neurological disease with a treatment known as Faecal Microbiota Transplantation. (Credit: ABC)




An Australian doctor claims he is curing incurable diseases using an all-natural waste product we usually flush away – human stool.

Professor Tom Borody has been championing the treatment, known as faecal microbiota transplantation (FMT), for 25 years.

As modern science begins to appreciate the critical role gut bacteria plays in human health, his treatment of diseases including Crohn’s and colitis, auto immune diseases and even neurological disease is provoking both criticism and excitement.

While some doctors regard faecal transplants as potentially dangerous, two of Australia’s biggest teaching hospitals are embarking on a large national trial.

Professor Borody is at science’s new frontier, manipulating the bacteria that live in the human gut.

“In terms of genetics there are 3.1 million genes. That’s a hell of a crowd of individuals living in our colon,” he said.

Bacterial cells far outnumber human cells in our bodies and bacteria experts including CSIRO’s chief research scientist, Dr David Topping, believe the world is at the edge of an extraordinary medical revolution that will come through the understanding of the so-called human microbiome.

“I think we’re on the edge of something extraordinary. The attention has switched entirely to the large bowel bacterial population which we now know is absolutely critical to human health,” Dr Topping said.

Professor Borody is not waiting for controlled clinical trials to treat a range of diseases.

Patients travel to his Sydney clinic from as far as the UK. Many are seriously ill. They come for FMT, where donor human stool is injected into their intestines or colons.

“We know that bacteria manufacture active anti-microbial molecules so when we infuse these new bacteria they are like a factory of antibiotics that have gone in there and they weed out and kill the bug that we cannot identify,” Professor Borody said.

FMT is now recognised in the US as a first line treatment to combat an epidemic of the antibiotic-resistant and often deadly gut bacteria, C.difficile.

But Professor Borody claims he has also cured dozens of colitis and Crohn’s cases, gut diseases regarded as incurable.

“I think it’s a hell of a breakthrough to say we can cure colitis,” he said.

Nurse ‘cured’ of Crohn’s after faecal transplant

Today nurse Suzanne Heskett is full of energy and walks several kilometres each day, but 13 years ago she was very ill, diagnosed with Crohn’s, a disease she believed would never be cured.

“I really believe that I was so sick that I would have ended up with part of my bowel removed,” she said.

“I was going to the toilet 18 times a day. I was sitting on the toilet for hours, cramping and in pain.”

During a consultation with Professor Borody he told her a cure was possible. It was an opportunity that Ms Heskett could not turn down.

“When Professor Borody offered this chance of a cure I thought: what if it works?” she said.

“They put a nasal tube down into my small intestine. I had three donors – about 950 mils –  and all up it took about five hours.”

She says she felt better almost immediately and over several months her condition steadily improved.

“Eleven months after having the stool transplant I had another colonoscopy to see what it looked like,” she said.

“I remember I was waking up from the anaesthetic and I heard Professor Borody say if he hadn’t known I’d had Crohn’s he wouldn’t have believed it. I was so happy.”

Ms Heskett’s colon has been healthy for 12 years with no sign of the Crohn’s infection that had kept her housebound for years.

Australian Gastroenterological Society urges caution

Other doctors, however, are not convinced faecal transplantation cured Ms Heskett.

Dr Katie Ellard, president of the Australian Gastroenterological Society, says no data exists to show FMT cures anything except infections caused by the bacteria, C.difficile.

“Crohn’s disease can wax and wane and people can get better for a while without intervention,” she said.

“It’s inappropriate to let enthusiasm overtake caution and start doing FMT for all sorts of conditions where we don’t know if it works or if there is a potential downside.

“We don’t know how to manipulate the faecal microbiota do we? It’s not impossible that we could do something that could give the patient symptoms or exacerbate their problem.”

Mainstream medicine may not have embraced faecal transplants, but Professor Borody has a patient waiting list that extends into next year.

His collaborator Emeritus Professor Robert Clancy says FMT is not only safe but a game-changer.

“If we can completely change the outcome of a significant proportion of patients with colitis for the very first time then it tells us a lot more about what is causing it,” he said.

“It opens up opportunities for other areas and conditions. It’s very exciting to be on the edge of this new idea about how the bacteria in the gut are driving and talking to the rest of the body.”

Professor believes gut is gateway to toxins

Controversially, Professor Borody believes the gut is the gateway for toxins to enter the body, triggering an array of seemingly unrelated diseases including rheumatoid arthritis, Parkinson’s and autism.

He says he has been surprised many times when diseases far from the gut have eased or vanished following faecal microbiota transplantations.

“We’ve had a young person with rheumatoid arthritis and it went away. It was classic rheumatoid factor positive RA,” he said.

Professor Borody also claims symptoms of Parkinson’s eased in three patients treated for chronic constipation.

But scepticism is strong. Autism Australia says there is no evidence that antibiotics can treat autism, and Parkinson’s groups do not recommend patients have faecal transplants.

The Australian Medical Association does not have a view on the treatment, and Medicare offers no rebate.

Case for gut pathogens triggering diseases builds

But worldwide, as interest grows, the case for gut pathogens triggering a vast range of diseases is building.

“It makes sense that molecules can get into the body’s system and change it, affect immunity, cause allergies,” Professor Clancy said.

“It is just an extension of that idea that pathogens would disturb brain structure and function, and the heart. We’re looking at everything afresh.”

Recently scientists found the distinct pathological signature for Parkinson’s in the colons of people in the early stage of the disease.

The CSIRO thinks such discoveries open the way for a profound change in treating and perhaps one day preventing diseases that plague the modern world.

“The interaction between microflora, particularly their products and their substrate, holds immense potential for the management and prevention of serious diseases, colorectal cancer, inflammatory bowel disease, perhaps even conditions like Alzheimer’s, autism and Parkinson’s,” Dr Topping said.

A nationwide trial of faecal transplants as a treatment for colitis is about to get underway, under the direction of St Vincent’s hospitals in Sydney and Melbourne.

It makes sense that molecules can get into the body’s system and change it, affect immunity, cause allergies.

Emeritus Professor Robert Clancy

It’s inappropriate to let enthusiasm overtake caution and start doing FMT for all sorts of conditions where we don’t know if it works or if there is a potential downside.

Henry Sapiecha

Dr Katie Ellard